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Number of items: 274.

Journal Article

Acevedo-Garcia, Johanna, Collins, Nicholas C., Ahmadinejad, Nahal, Ma, Lu ORCID: 0000-0001-5271-0686, Houben, Andreas ORCID: 0000-0003-3419-239X, Bednarek, Pawel ORCID: 0000-0002-3064-7775, Benjdia, Mariam ORCID: 0000-0003-1554-5452, Freialdenhoven, Andreas, Altmueller, Janine, Nuernberg, Peter, Reinhardt, Richard ORCID: 0000-0001-9376-2132, Schulze-Lefert, Paul and Panstruga, Ralph ORCID: 0000-0002-3756-8957 (2013). Fine mapping and chromosome walking towards the Ror1 locus in barley (Hordeum vulgare L.). Theor. Appl. Genet., 126 (12). S. 2969 - 2983. NEW YORK: SPRINGER. ISSN 1432-2242

Ackermann, Sandra ORCID: 0000-0002-5869-7344, Cartolano, Maria, Hero, Barbara, Welte, Anne, Kahlert, Yvonne, Roderwieser, Andrea, Bartenhagen, Christoph, Walter, Esther, Gecht, Judith, Kerschke, Laura, Volland, Ruth, Menon, Roopika, Heuckmann, Johannes M., Gartlgruber, Moritz, Hartlieb, Sabine ORCID: 0000-0003-3746-7010, Henrich, Kai-Oliver, Okonechnikov, Konstantin, Altmueller, Janine, Nuernberg, Peter, Lefever, Steve, de Wilde, Bram, Sand, Frederik, Ikram, Fakhera, Rosswog, Carolina, Fischer, Janina, Theissen, Jessica, Hertwig, Falk ORCID: 0000-0003-4784-6516, Singhi, Aatur D., Simon, Thorsten, Vogel, Wenzel, Perner, Sven, Krug, Barbara, Schmidt, Matthias, Rahmann, Sven, Achter, Viktor, Lang, Ulrich ORCID: 0000-0001-7166-0805, Vokuhl, Christian, Ortmann, Monika, Buettner, Reinhard, Eggert, Angelika, Speleman, Frank, O'Sullivan, Roderick J., Thomas, Roman K., Berthold, Frank, Vandesompele, Jo, Schramm, Alexander, Westermann, Frank, Schulte, Johannes H., Peifer, Martin and Fischer, Matthias (2018). A mechanistic classification of clinical phenotypes in neuroblastoma. Science, 362 (6419). S. 1165 - 1205. WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 1095-9203

Adam, Ronja, Spier, Isabel, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Kloth, Michael, Marquez, Jonathan, Hinrichsen, Inga, Kirfel, Jutta, Tafazzoli, Aylar, Horpaopan, Sukanya, Uhlhaas, Siegfried, Stienen, Dietlinde, Friedrichs, Nicolaus, Altmueller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Kayser, Katrin, Thiele, Holger, Holinski-Feder, Elke, Marra, Giancarlo, Kristiansen, Glen, Noethen, Markus M., Buettner, Reinhard, Moeslein, Gabriela, Betz, Regina C., Brieger, Angela, Lifton, Richard P. and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2016). Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am. J. Hum. Genet., 99 (2). S. 337 - 352. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Ahmad, Ilyas ORCID: 0000-0003-4845-9227, Khan, Ayaz ORCID: 0000-0002-4743-7387, Noor Ul Ayan, Hafiza, Budde, Birgit, Altmueller, Janine, Korejo, Asad Aslam, Nurnberg, Gudrun, Thiele, Holger, Tariq, Muhmmad, Nuernberg, Peter and Erdmann, Jeanette (2023). A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family. J. Hum. Genet., 68 (2). S. 107 - 110. LONDON: SPRINGERNATURE. ISSN 1435-232X

Alawbathani, Salem, Kawalia, Amit, Karakaya, Mert, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2018). Late diagnosis of a truncating W1SP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia. Cold Spring Harb. Mol. Case Stud., 4 (1). COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 2373-2873

Altmueller, Janine, Budde, Birgit S. and Nuernberg, Peter (2014). Enrichment of target sequences for next-generation sequencing applications in research and diagnostics. Biol. Chem., 395 (2). S. 231 - 238. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1437-4315

Altmueller, Janine, Haenisch, Britta, Kawalia, Amit, Menzen, Markus, Noethen, Markus M., Fier, Heide and Molderings, Gerhard J. (2017). Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing. Immunogenetics, 69 (6). S. 359 - 370. NEW YORK: SPRINGER. ISSN 1432-1211

Altmueller, Janine, Motameny, Susanne, Becker, Christian, Thiele, Holger, Chatterjee, Sreyoshi, Wollnik, Bernd and Nuernberg, Peter (2016). A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product. Biol. Chem., 397 (8). S. 791 - 802. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1437-4315

Ammann, Sandra ORCID: 0000-0003-0385-1890, Schulz, Ansgar, Kraegeloh-Mann, Ingeborg, Dieckmann, Nele M. G., Niethammer, Klaus, Fuchs, Sebastian ORCID: 0000-0001-9191-7970, Eckl, Katja Martina, Plank, Roswitha, Werner, Roland, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Bank, Julia, Strauss, Anne, von Bernuth, Horst, zur Stadt, Udo, Grieve, Samantha, Griffiths, Gillian M., Lehmberg, Kai, Hennies, Hans Christian and Ehl, Stephan (2016). Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). S. 997 - 1007. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Andreotti, Sandro, Altmueller, Janine, Quedenau, Claudia, Borodina, Tatiana, Nouailles, Geraldine, Teixeira Alves, Luiz Gustavo, Landthaler, Markus ORCID: 0000-0002-1075-8734, Bieniara, Maximilian, Trimpert, Jakob and Wyler, Emanuel (2022). De Novo-Whole Genome Assembly of the Roborovski Dwarf Hamster (Phodopus roborovskii) Genome: An Animal Model for Severe/Critical COVID-19. Genome Biol. Evol., 14 (7). OXFORD: OXFORD UNIV PRESS. ISSN 1759-6653

Andres, Fernando ORCID: 0000-0003-4736-8876, Romera-Branchat, Maida ORCID: 0000-0002-6685-5066, Martinez-Gallegos, Rafael, Patel, Vipul, Schneeberger, Korbinian, Jang, Seonghoe, Altmueller, Janine, Nuernberg, Peter and Coupland, George ORCID: 0000-0001-6988-4172 (2015). Floral Induction in Arabidopsis by FLOWERING LOCUS T Requires Direct Repression of BLADE-ON-PETIOLE Genes by the Homeodomain Protein PENNYWISE. Plant Physiol., 169 (3). S. 2187 - 2200. ROCKVILLE: AMER SOC PLANT BIOLOGISTS. ISSN 1532-2548

Asif, Maria, Mocanu, Ionut Dragos, Abdullah, Uzma, Hoehne, Wolfgang, Altmueller, Janine, Makhdoom, Ehtisham Ul Haq, Thiele, Holger, Baig, Shahid Mahmood, Nuernberg, Peter, Graul-Neumann, Luitgard and Hussain, Muhammad Sajid (2022). A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. Am. J. Med. Genet. A, 188 (4). S. 1251 - 1259. HOBOKEN: WILEY. ISSN 1552-4833

Augustin, Max ORCID: 0000-0002-2300-9337, Schommers, Philipp ORCID: 0000-0003-3375-6800, Stecher, Melanie, Dewald, Felix, Gieselmann, Lutz, Gruell, Henning, Horn, Carola, Vanshylla, Kanika ORCID: 0000-0003-4552-9170, Di Cristanziano, Veronica, Osebold, Luise, Roventa, Maria, Riaz, Toqeer, Tschernoster, Nikolai, Altmueller, Janine, Rose, Leonard, Salomon, Susanne, Priesner, Vanessa, Luers, Jan Christoffer, Albus, Christian, Rosenkranz, Stephan, Gathof, Birgit, Faetkenheuer, Gerd, Hallek, Michael, Klein, Florian, Suarez, Isabelle and Lehmann, Clara (2021). Post-COVID syndrome in non-hospitalised patients with COVID-19: a longitudinal prospective cohort study. Lancet Reg. Health-Eur., 6. AMSTERDAM: ELSEVIER. ISSN 2666-7762

Augustin, Max ORCID: 0000-0002-2300-9337, Schommers, Philipp Frederik ORCID: 0000-0003-3375-6800, Stecher, Melanie, Dewald, Felix, Gieselmann, Lutz ORCID: 0000-0003-3699-3318, Grüll, Henning ORCID: 0000-0002-0725-7138, Horn, Carola, Vanshylla, Kanika ORCID: 0000-0003-4552-9170, Cristanziano, Veronica Di ORCID: 0000-0003-1604-8386, Osebold, Luise, Roventa, Maria, Riaz, Toqeer, Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Altmueller, Janine ORCID: 0000-0003-4372-1521, Rose, Leonard, Salomon, Susanne ORCID: 0000-0002-5143-2351, Priesner, Vanessa, Luers, Jan Christoffer, Albus, Christian ORCID: 0000-0002-4033-887X, Rosenkranz, Stephan, Gathof, Birgit, Fätkenheuer, Gerd ORCID: 0000-0002-5054-1871, Hallek, Michael ORCID: 0000-0002-7425-4455, Klein, Florian ORCID: 0000-0003-1376-1792, Suarez, Isabelle ORCID: 0000-0002-9863-9675 and Lehmann, Clara ORCID: 0000-0002-7042-1578 (2021). Post-COVID syndrome in non-hospitalised patients with COVID-19: a longitudinal prospective cohort study. The Lancet Regional Health - Europe, 6. p. 100122. Elsevier. ISSN 2666-7762

Awazawa, Motoharu, Gabel, Paula, Tsaousidou, Eva ORCID: 0000-0003-2751-1911, Nolte, Hendrik, Krueger, Marcus ORCID: 0000-0003-2008-4582, Schmitz, Joel, Ackermann, P. Justus, Brandt, Claus ORCID: 0000-0002-7871-7437, Altmueller, Janine, Motameny, Susanne, Wunderlich, F. Thomas, Kornfeld, Jan-Wilhelm ORCID: 0000-0002-6802-4442, Blueher, Matthias and Bruning, Jens C. (2017). A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle. Nat. Med., 23 (12). S. 1466 - 1478. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-170X

Bamborschke, Daniel, Oezdemir, Oezkan, Kreutzer, Mona, Motameny, Susanne, Thiele, Holger ORCID: 0000-0002-0169-998X, Kribs, Angela, Doetsch, Joerg, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2021). Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours. Am. J. Med. Genet. A, 185 (1). S. 90 - 97. HOBOKEN: WILEY. ISSN 1552-4833

Bartram, Malte P., Habbig, Sandra, Pahmeyer, Caroline, Hoehne, Martin, Weber, Lutz T., Thiele, Holger, Altmueller, Janine, Kottoor, Nina, Wenzel, Andrea, Krueger, Marcus ORCID: 0000-0003-2008-4582, Schermer, Bernhard ORCID: 0000-0002-5194-9000, Benzing, Thomas, Rinschen, Markus M. and Beck, Bodo B. (2016). Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. Hum. Mol. Genet., 25 (6). S. 1152 - 1165. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Basel-Vanagaite, Lina, Dallapiccola, Bruno ORCID: 0000-0002-5031-1013, Ramirez-Solis, Ramiro ORCID: 0000-0003-4182-173X, Segref, Alexandra ORCID: 0000-0001-8095-4469, Thiele, Holger, Edwards, Andrew, Arends, Mark J., Miro, Xavier, White, Jacqueline K., Desir, Julie, Abramowicz, Marc ORCID: 0000-0003-0623-8768, Dentici, Maria Lisa, Lepri, Francesca, Hofmann, Kay, Har-Zahav, Adi, Ryder, Edward ORCID: 0000-0002-1799-9899, Karp, Natasha A., Estabel, Jeanne, Gerdin, Anna-Karin B., Podrini, Christine ORCID: 0000-0002-5391-3378, Ingham, Neil J., Altmueller, Janine, Nuernberg, Gudrun, Frommolt, Peter ORCID: 0000-0002-1966-8014, Abdelhak, Sonia ORCID: 0000-0001-8466-5525, Pasmanik-Chor, Metsada, Konen, Osnat, Kelley, Richard I., Shohat, Mordechai, Nuernberg, Peter, Flint, Jonathan, Steel, Karen P., Hoppe, Thorsten ORCID: 0000-0002-4734-9352, Kubisch, Christian ORCID: 0000-0003-4220-0978, Adams, David J. and Borck, Guntram (2012). Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome. Am. J. Hum. Genet., 91 (6). S. 998 - 1011. CAMBRIDGE: CELL PRESS. ISSN 0002-9297

Basmanav, F. Buket, Fritz, Guenter ORCID: 0000-0002-4571-8812, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes ORCID: 0000-0002-2079-1845, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette ORCID: 0000-0002-3004-0180 and Betz, Regina C. (2015). Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. J. Invest. Dermatol., 135 (2). S. 615 - 619. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1523-1747

Basmanav, F. Buket, Oprisoreanu, Ana-Maria ORCID: 0000-0002-9409-0830, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter ORCID: 0000-0002-4571-8812, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette ORCID: 0000-0002-3004-0180, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra and Betz, Regina C. (2014). Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. Am. J. Hum. Genet., 94 (1). S. 135 - 144. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Basmanav, F. Buket U., Cau, Laura ORCID: 0000-0002-2480-536X, Tafazzoli, Aylar, Mechin, Marie-Claire, Wolf, Sabrina, Romano, Maria Teresa, Valentin, Frederic, Wiegmann, Henning, Huchenq, Anne, Kandil, Rima, Bartels, Natalie Garcia, Kilic, Arzu, George, Susannah, Ralser, Damian J., Bergner, Stefan, Ferguson, David J. P., Oprisoreanu, Ana-Maria ORCID: 0000-0002-9409-0830, Wehner, Maria, Thiele, Holger, Altmueller, Janine, Nuerenberg, Peter, Swan, Daniel ORCID: 0000-0001-8978-8129, Houniet, Darren, Buechner, Aline, Weibel, Lisa, Wagner, Nicola, Grimalt, Ramon, Bygum, Anette ORCID: 0000-0002-3004-0180, Serre, Guy, Blume-Peytavi, Ulrike, Sprecher, Eli, Schoch, Susanne, Oji, Vinzenz ORCID: 0000-0003-1380-4828, Hamm, Henning, Farrant, Paul, Simon, Michel ORCID: 0000-0003-3655-6329 and Betz, Regina C. (2016). Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am. J. Hum. Genet., 99 (6). S. 1292 - 1305. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Bauer, Christiane K., Schneeberger, Pauline E., Kortuem, Fanny, Altmueller, Janine, Santos-Simarro, Fernando ORCID: 0000-0002-1201-9118, Baker, Laura, Keller-Ramey, Jennifer, White, Susan M., Campeau, Philippe M., Gripp, Karen W. and Kutsche, Kerstin (2019). Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. Am. J. Hum. Genet., 104 (6). S. 1139 - 1158. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Beck, Bodo B., Phillips, Jennifer B., Bartram, Melte P., Wegner, Jeremy, Thoenes, Michaele, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Goebel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nuernberg, Gudrun, Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria ORCID: 0000-0002-0600-6820, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe and Bolz, Hanno J. (2014). Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy. Hum. Mutat., 35 (10). S. 1153 - 1163. HOBOKEN: WILEY. ISSN 1098-1004

Bobbili, Dheeraj R., Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Jurkowski, Wiktor, Feucht, Martha, Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Krause, Roland ORCID: 0000-0001-9938-7126, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz ORCID: 0000-0002-6998-5480, Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Lal, Dennis, Nrnberg, Peter, Sander, Thomas, Thiele, Holger, Krause, Roland ORCID: 0000-0001-9938-7126, May, Patrick ORCID: 0000-0001-8698-3770, Balling, Rudi ORCID: 0000-0003-2902-5650, Lerche, Holger and Neubauer, Bernd A. (2018). Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. Eur. J. Hum. Genet., 26 (2). S. 258 - 265. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Boegershausen, Nina, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Yigit, Goekhan, Kayserili, Huelya, Nuernberg, Peter, Li, Yun, Altmueller, Janine and Wollnik, Bernd (2016). An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity. Am. J. Med. Genet. A, 170 (12). S. 3282 - 3289. HOBOKEN: WILEY. ISSN 1552-4833

Boegershausen, Nina, Krawczyk, Hannah E., Jamra, Rami A., Lin, Sheng-Jia ORCID: 0000-0002-7559-6529, Yigit, Goekhan, Huening, Irina, Polo, Anna M., Vona, Barbara ORCID: 0000-0002-6719-3447, Huang, Kevin ORCID: 0000-0002-2512-7812, Schmidt, Julia, Altmueller, Janine, Luppe, Johannes, Platzer, Konrad, Doergeloh, Beate B., Busche, Andreas, Biskup, Saskia, Mendes, Marisa, I, Smith, Desiree E. C., Salomons, Gajja S., Zibat, Arne, Bueltmann, Eva, Nuernberg, Peter, Spielmann, Malte, Lemke, Johannes R., Li, Yun, Zenker, Martin, Varshney, Gaurav K. ORCID: 0000-0002-0429-1904, Hillen, Hauke S., Kratz, Christian P. and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. Hum. Mutat., 43 (10). S. 1454 - 1472. HOBOKEN: WILEY. ISSN 1098-1004

Boehm, Volker ORCID: 0000-0001-7588-9842, Britto-Borges, Thiago, Steckelberg, Anna-Lena ORCID: 0000-0001-7988-9946, Singh, Kusum K., Gerbracht, Jennifer V. ORCID: 0000-0002-3377-4649, Gueney, Elif, Blazquez, Lorea, Altmueller, Janine, Dieterich, Christoph and Gehring, Niels H. (2018). Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity. Mol. Cell, 72 (3). S. 482 - 503. CAMBRIDGE: CELL PRESS. ISSN 1097-4164

Boehm, Volker ORCID: 0000-0001-7588-9842, Kueckelmann, Sabrina ORCID: 0000-0001-8070-8823, Gerbracht, Jennifer, V, Kallabis, Sebastian ORCID: 0000-0003-1580-7109, Britto-Borges, Thiago, Altmueller, Janine, Krueger, Marcus, Dieterich, Christoph and Gehring, Niels H. (2021). SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity. Nat. Commun., 12 (1). BERLIN: NATURE PORTFOLIO. ISSN 2041-1723

Boileau, Etienne, Altmueller, Janine, Naarmann-de Vries, Isabel S. and Dieterich, Christoph (2021). A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover. Brief. Bioinform., 22 (6). OXFORD: OXFORD UNIV PRESS. ISSN 1477-4054

Boileau, Etienne, Li, Xue, Naarmann-de Vries, Isabel S., Becker, Christian, Casper, Ramona, Altmueller, Janine, Leuschner, Florian and Dieterich, Christoph (2022). Full-Length Spatial Transcriptomics Reveals the Unexplored Isoform Diversity of the Myocardium Post-MI. Front. Genet., 13. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021

Borck, Guntram, Shin, Byung-Sik, Stiller, Barbara, Mimouni-Bloch, Aviva, Thiele, Holger, Kim, Joo-Ran, Thakur, Meghna, Skinner, Cindy, Aschenbach, Lara, Smirin-Yosef, Pola, Har-Zahav, Adi, Nuernberg, Gudrun, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Hofmann, Kay, Konen, Osnat, Nuernberg, Peter, Munnich, Arnold, Schwartz, Charles E., Gothelf, Doron, Colleaux, Laurence, Dever, Thomas E., Kubisch, Christian ORCID: 0000-0003-4220-0978 and Basel-Vanagaite, Lina (2012). elF2 gamma Mutation that Disrupts elF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation. Mol. Cell, 48 (4). S. 641 - 647. CAMBRIDGE: CELL PRESS. ISSN 1097-2765

Bramswig, Nuria C., Luedecke, Hermann-Josef, Hamdan, Fadi F., Altmueller, Janine, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Elcioglu, Nursel H., Freyer, Catharine, Gerkes, Erica H., Demirkol, Yasemin Kendir, Knupp, Kelly G., Kuechler, Alma, Li, Yun, Lowenstein, Daniel H., Michaud, Jacques L., Park, Kristen, Stegmann, Alexander P. A., Veenstra-Knol, Hermine E., Wieland, Thomas, Wollnik, Bernd, Engels, Hartmut, Strom, Tim M., Kleefstra, Tjitske and Wieczorek, Dagmar (2017). Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum. Genet., 136 (7). S. 821 - 835. NEW YORK: SPRINGER. ISSN 1432-1203

Braun, Daniela A., Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan ORCID: 0000-0003-3377-7599, Asif, Maria, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Daga, Ankana, Widmeier, Eugen ORCID: 0000-0002-7773-5190, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C. Patrick, Kolb, Amy, Jobst-Schwan, Tilman ORCID: 0000-0001-9802-6783, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Eddy, Kaitlyn, Kitzler, Thomas M., Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A., Lawson, Jennifer A., Gee, Heon Yung ORCID: 0000-0002-8741-6177, Warejko, Jillian K., Hermle, Tobias ORCID: 0000-0002-0441-7749, Majmundar, Amar J., Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmueller, Janine, Noegel, Angelika Anna, Fathy, Hanan M., Gale, Daniel P., Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroglu, Erkin ORCID: 0000-0002-6863-8866, Alhasan, Khalid A., Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S., Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P., Mane, Shrikant, Nuernberg, Peter, Khokha, Mustafa K. and Hildebrandt, Friedhelm (2018). Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J. Clin. Invest., 128 (10). S. 4313 - 4329. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Braun, Till, Stachelscheid, Johanna ORCID: 0000-0001-7419-8900, Bley, Nadine, Oberbeck, Sebastian, Otte, Moritz, Muller, Tony Andreas, Wahnschaffe, Linus, Glass, Markus ORCID: 0000-0003-2718-8907, Ommer, Katharina, Franitza, Marek, Gathof, Birgit, Altmueller, Janine, Hallek, Michael ORCID: 0000-0002-7425-4455, Auguin, Daniel ORCID: 0000-0003-4713-9096, Huettelmaier, Stefan, Schrader, Alexandra and Herling, Marco (2022). Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia. Cancer Res., 82 (9). S. 1818 - 1832. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7445

Broekaert, Ilse Julia, Becker, Kerstin, Gottschalk, Ingo, Koerber, Friederike, Doetsch, Joerg, Thiele, Holer, Altmueller, Janine, Nuernberg, Peter, Huenseler, Christoph and Cirak, Sebahattin (2018). Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. J. Med. Genet., 55 (9). S. 637 - 641. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Brych, Annika, Haas, Fabian B., Parzefall, Katharina, Panzer, Sabine, Schermuly, Jeanette, Altmueller, Janine, Engelsdorf, Timo ORCID: 0000-0002-2169-0536, Terpitz, Ulrich ORCID: 0000-0003-3031-3422, Rensing, Stefan A., Kiontke, Stephan and Batschauer, Alfred (2021). Coregulation of gene expression by White collar 1 and phytochrome in Ustilago maydis. Fungal Genet. Biol., 152. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1096-0937

Bubb, Kristina ORCID: 0000-0002-8457-0566, Holzer, Tatjana, Nolte, Janica L., Krueger, Marcus, Wilson, Richard, Schloetzer-Schrehardt, Ursula, Brinckmann, Juergen, Altmueller, Janine, Aszodi, Attila, Fleischhauer, Lutz, Clausen-Schaumann, Hauke ORCID: 0000-0002-9413-0310, Probst, Kristina and Brachvogel, Bent (2021). Mitochondrial respiratory chain function promotes extracellular matrix integrity in cartilage. J. Biol. Chem., 297 (4). AMSTERDAM: ELSEVIER. ISSN 1083-351X

Budde, Birgit S., Aly, Maha Abdelgaber, Mohamed, Mostafa R., Bress, Andreas, Altmueller, Janine, Motameny, Susanne, Kawalia, Amit, Thiele, Holger, Konrad, Kathryn, Becker, Christian, Toliat, Mohammad R., Nuernberg, Gudrun, Sayed, Eman Abdel Fattah, Mohamed, Enass Sayed, Pfister, Markus and Nuernberg, Peter (2020). Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clin. Genet., 98 (1). S. 32 - 43. HOBOKEN: WILEY. ISSN 1399-0004

Budde, Birgit S., Mizumoto, Shuji ORCID: 0000-0002-4641-1505, Kogawa, Ryo, Becker, Christian, Altmueller, Janine, Thiele, Holger, Rueschendorf, Franz, Toliat, Mohammad R., Kaleschke, Gerrit, Haemmerle, Johannes M., Hoaehne, Wolfgang, Sugahara, Kazuyuki, Nuernberg, Peter and Kennerknecht, Ingo (2015). Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. Hum. Genet., 134 (7). S. 691 - 705. NEW YORK: SPRINGER. ISSN 1432-1203

Chatzidoukaki, Ourania ORCID: 0000-0002-8746-2405, Stratigi, Kalliopi, Goulielmaki, Evi, Niotis, George ORCID: 0000-0002-4874-7336, Akalestou-Clocher, Alexia, Gkirtzimanaki, Katerina ORCID: 0000-0002-6489-0351, Zafeiropoulos, Alexandros, Altmueller, Janine, Topalis, Pantelis ORCID: 0000-0002-1635-4810 and Garinis, George A. (2021). R-loops trigger the release of cytoplasmic ssDNAs leading to chronic inflammation upon DNA damage. Sci. Adv., 7 (47). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 2375-2548

Cheng, Jie, Sedlazek, Fritz, Altmueller, Janine and Nolte, Arne W. (2015). Ectodysplasin signalling genes and phenotypic evolution in sculpins (Cottus). Proc. R. Soc. B-Biol. Sci., 282 (1815). LONDON: ROYAL SOC. ISSN 1471-2954

Conrad, Thomas ORCID: 0000-0001-5618-6295 and Altmueller, Janine (2022). Single cell- and spatial 'Omics revolutionize physiology. Acta Physiol., 235 (4). HOBOKEN: WILEY. ISSN 1748-1716

Cunha, Dulce Lima, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmueller, Janine, Nuernberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Alabdulkareem, Adnan S., Alnutaifi, Kholood Abdulaziz and Hennies, Hans Christian (2019). Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Mol. Genet. Genom. Med., 7 (3). HOBOKEN: WILEY. ISSN 2324-9269

Czypionka, Till, Krugman, Tamar, Altmueller, Janine, Blaustein, Leon, Steinfartz, Sebastian ORCID: 0000-0001-5347-3969, Templeton, Alan R. and Nolte, Arne W. (2015). Ecological transcriptomics - a non-lethal sampling approach for endangered fire salamanders. Methods Ecol. Evol., 6 (12). S. 1417 - 1426. HOBOKEN: WILEY-BLACKWELL. ISSN 2041-2096

Dafsari, Hormos Salimi, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Wunderlich, Gilbert, Daimagueler, Huelya-Sevcan, Karaca, Ezgi ORCID: 0000-0002-4926-7991, Contreras, Adriana, Becker, Kerstin, Schulze-Rhonhof, Mira, Kiening, Karl, Karakulak, Tulay ORCID: 0000-0002-4644-2774, Kloss, Manja, Horn, Annette, Pauls, Amande, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Assmann, Birgit, Koy, Anne and Cirak, Sebahattin (2019). Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J. Hum. Genet., 64 (8). S. 803 - 814. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

Daimagueler, Huelya-Sevcan, Akpulat, Ugur, Oezdemir, Oezkan, Yis, Uluc, Gungor, Serdal, Talim, Beril, Diniz, Gulden, Baydan, Figen, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2021). Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. Am. J. Med. Genet. A, 185 (6). S. 1678 - 1691. HOBOKEN: WILEY. ISSN 1552-4833

Dejanovic, Boris Lav, Lal, Dennis, Catarino, Claudia B., Arjune, Sita, Belaidi, Abdel A., Trucks, Holger, Vollmar, Christian ORCID: 0000-0002-4630-7484, Surges, Rainer ORCID: 0000-0002-3177-8582, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Motameny, Susanne, Altmueller, Janine, Koehler, Anna, Neubauer, Bernd A., Nuernberg, Peter, Noachtar, Soheyl, Schwarz, Gunter and Sander, Thomas (2014). Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy. Neurobiol. Dis., 67. S. 88 - 97. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1095-953X

Demenais, Florence ORCID: 0000-0001-8361-0936, Margaritte-Jeannin, Patricia, Barnes, Kathleen C., Cookson, William O. C., Altmueller, Janine, Ang, Wei, Barr, R. Graham, Beaty, Terri H., Becker, Allan B., Beilby, John ORCID: 0000-0002-4915-2254, Bisgaard, Hans ORCID: 0000-0003-4131-7592, Bjornsdottir, Unnur Steina, Bleecker, Eugene, Bonnelykke, Klaus ORCID: 0000-0003-2003-1018, Boomsma, Dorret I., Bouzigon, Emmanuelle ORCID: 0000-0001-5756-4286, Brightling, Christopher E., Brossard, Myriam, Brusselle, Guy G., Burchard, Esteban, Burkart, Kristin M., Bush, Andrew, Chan-Yeung, Moira, Chung, Kian Fan ORCID: 0000-0001-7101-1426, Alves, Alexessander Couto, Curtin, John A., Custovic, Adnan ORCID: 0000-0001-5218-7071, Daley, Denise, de Jongste, Johan C., Del-Rio-Navarro, Blanca E., Donohue, Kathleen M., Duijts, Liesbeth, Eng, Celeste, Eriksson, Johan G., Farrall, Martin, Fedorova, Yuliya ORCID: 0000-0002-9344-828X, Feenstra, Bjarke, Ferreira, Manuel A., Freidin, Maxim B., Gajdos, Zofia, Gauderman, Jim, Gehring, Ulrike, Geller, Frank ORCID: 0000-0002-9238-3269, Genuneit, Jon, Gharib, Sina A., Gilliland, Frank, Granell, Raquel ORCID: 0000-0002-4890-4012, Graves, Penelope E., Gudbjartsson, Daniel F., Haahtela, Tari, Heckbert, Susan R., Heederik, Dick, Heinrich, Joachim ORCID: 0000-0002-9620-1629, Heliovaara, Markku, Henderson, John, Himes, Blanca E., Hirose, Hiroshi, Hirschhorn, Joel N., Hofman, Albert, Holt, Patrick ORCID: 0000-0003-1193-0935, Hottenga, Jouke, Hudson, Thomas J., Hui, Jennie ORCID: 0000-0002-1653-2496, Imboden, Medea, Ivanov, Vladimir, Jaddoe, Vincent W. V., James, Alan, Janson, Christer, Jarvelin, Marjo-Riitta, Jarvis, Deborah ORCID: 0000-0002-1753-3896, Jones, Graham, Jonsdottir, Ingileif, Jousilahti, Pekka, Kabesch, Michael, Kahonen, Mika ORCID: 0000-0002-4510-7341, Kantor, David B., Karunas, Alexandra S., Khusnutdinova, Elza, Koppelman, Gerard H., Kozyrskyj, Anita L., Kreiner, Eskil, Kubo, Michiaki, Kumar, Rajesh, Kumar, Ashish, Kuokkanen, Mikko ORCID: 0000-0003-4375-9327, Lahousse, Lies ORCID: 0000-0002-3494-4363, Laitinen, Tarja, Laprise, Catherine ORCID: 0000-0001-5526-9945, Lathrop, Mark, Lau, Susanne, Lee, Young-Ae, Lehtimaki, Terho, Letort, Sebastien, Levin, Albert M., Li, Guo, Liang, Liming, Loehr, Laura R., London, Stephanie J., Loth, Daan W., Manichaikul, Ani, Marenholz, Ingo, Martinez, Fernando J., Matheson, Melanie C., Mathias, Rasika A., Matsumoto, Kenji, Mbarek, Hamdi ORCID: 0000-0002-1108-0371, McArdle, Wendy L., Melbye, Mads, Melen, Erik, Meyers, Deborah, Michel, Sven, Mohamdi, Hamida, Musk, Arthur W., Myers, Rachel A., Nieuwenhuis, Maartje A. E., Noguchi, Emiko, O'Connor, George T., Ogorodova, Ludmila M., Palmer, Cameron D., Palotie, Aarno, Park, Julie E., Pennell, Craig E., Pershagen, Goran, Polonikov, Alexey ORCID: 0000-0001-6280-247X, Postma, Dirkje S., Probst-Hensch, Nicole, Puzyrev, Valery P., Raby, Benjamin A., Raitakari, Olli T., Ramasamy, Adaikalavan ORCID: 0000-0002-7598-2892, Rich, Stephen S., Robertson, Colin F., Romieu, Isabelle, Salam, Muhammad T., Salomaa, Veikko, Schlunssen, Vivi ORCID: 0000-0003-4915-1734, Scott, Robert, Selivanova, Polina A., Sigsgaard, Torben ORCID: 0000-0002-2043-7571, Simpson, Angela ORCID: 0000-0003-2733-6666, Siroux, Valerie, Smith, Lewis J., Solodilova, Maria, Standl, Marie ORCID: 0000-0002-5345-2049, Stefansson, Kari, Strachan, David P., Stricker, Bruno H., Takahashi, Atsushi, Thompson, Philip J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tiesler, Carla M. T., Torgerson, Dara G., Tsunoda, Tatsuhiko ORCID: 0000-0002-5439-7918, Uitterlinden, Andre G., van der Valk, Ralf J. P., Vaysse, Amaury ORCID: 0000-0003-2397-4230, Vedantam, Sailaja, von Berg, Andrea, von Mutius, Erika, Vonk, Judith M., Waage, Johannes, Wareham, Nick J., Weiss, Scott T., White, Wendy B., Wickman, Magnus, Widen, Elisabeth, Willemsen, Gonneke ORCID: 0000-0003-3755-0236, Williams, L. Keoki, Wouters, Inge M., Yang, James J., Zhao, Jing Hua, Moffatt, Miriam F., Ober, Carole ORCID: 0000-0003-4626-9809 and Nicolae, Dan L. (2018). Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. Nature Genet., 50 (1). S. 42 - 56. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Dennenmoser, Stefan, Sedlazeck, Fritz J., Iwaszkiewicz, Elzbieta ORCID: 0000-0003-1412-1711, Li, Xiang-Yi ORCID: 0000-0001-8662-0865, Altmueller, Janine and Nolte, Arne W. (2017). Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin. Mol. Ecol., 26 (18). S. 4712 - 4725. HOBOKEN: WILEY. ISSN 1365-294X

Dennenmoser, Stefan, Sedlazeck, Fritz J., Schatz, Michael C., Altmueller, Janine, Zytnicki, Matthias and Nolte, Arne W. (2019). Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish. Mol. Ecol., 28 (6). S. 1491 - 1506. HOBOKEN: WILEY. ISSN 1365-294X

Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Kuechler, Alma, Vergano, Samantha, Heinritz, Wolfram, Bodurtha, Joann, Merchant, Sabiha R., Breningstall, Galen, Ladda, Roger, Sell, Susan, Altmueller, Janine, Boegershausen, Nina, Timms, Andrew E., Hackmann, Karl, Schrock, Evelin, Collins, Sarah, Olds, Carissa, Rump, Andreas ORCID: 0000-0001-7116-6364 and Dobyns, William B. (2016). Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am. J. Med. Genet. A, 170 (10). S. 2644 - 2652. HOBOKEN: WILEY. ISSN 1552-4833

Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Neuhann, Teresa, Kahlert, Anne-Karin, Klink, Barbara, Hackmann, Karl, Neuhann, Irmingard, Novotna, Barbora, Schallner, Jens, Krause, Claudia, Glass, Ian A., Parnell, Shawn E., Benet-Pages, Anna, Nissen, Anke M., Berger, Wolfgang, Altmueller, Janine, Thiele, Holger, Weber, Bernhard H. F., Schrock, Evelin, Dobyns, William B., Bier, Andrea and Rump, Andreas ORCID: 0000-0001-7116-6364 (2016). Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J. Med. Genet., 53 (6). S. 419 - 426. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Marielle, Altmueller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coeslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba ORCID: 0000-0001-5371-6756, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas ORCID: 0000-0002-0119-5896, Blok, Lot Snijders, Stoler, Joan M., Tang, Sha, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe ORCID: 0000-0001-9713-7107 and Bhoj, Elizabeth (2020). A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur. J. Hum. Genet., 28 (10). S. 1422 - 1432. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Dumont, Martine ORCID: 0000-0002-5488-4839, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna ORCID: 0000-0001-7756-8815, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stephane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallee, Maxime, Fournier, Frederic, Lemacon, Audrey, Adank, Muriel A., Allen, Jamie, Altmueller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley ORCID: 0000-0002-3280-7154, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph ORCID: 0000-0002-7247-282X, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horvath, Judit, Ikram, M. Arf An, Kaulfuss, Silke ORCID: 0000-0003-2577-9711, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nurnberg, Peter ORCID: 0000-0002-7228-428X, Ott, Claus-Eric, Peters, Annette ORCID: 0000-0001-6645-0985, Pharoah, Paul D. P., Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stabler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael ORCID: 0000-0003-2589-6440, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter ORCID: 0000-0002-8023-2009, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric and Simard, Jacques ORCID: 0000-0001-6906-3390 (2022). Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers, 14 (14). BASEL: MDPI. ISSN 2072-6694

Eckl, Katja M., Gruber, Robert, Brennan, Louise, Marriott, Andrew, Plank, Roswitha, Moosbrugger-Martinz, Verena, Blunder, Stefan, Schossig, Anna, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Zschocke, Johannes, Hennies, Hans Christian and Schmuth, Matthias (2021). Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V. Front. Genet., 12. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021

Ehmke, Nadja, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valerie, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmueller, Janine, Fischer-Zirnsak, Bjoern, Knaus, Alexej, Zhu, Na ORCID: 0000-0001-6460-3087, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte ORCID: 0000-0002-0583-4683, Horn, Denise, Komak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nuernberg, Peter, Siebert, Reiner, Manzke, Hermann and Mundlos, Stefan (2014). Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome. Am. J. Hum. Genet., 95 (6). S. 763 - 771. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara ORCID: 0000-0002-0939-3213, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beatrix, Kalscheuer, Vera M., Hennig, Friederike, Altmueller, Janine, Netzer, Christian, Thiele, Holger, Nuernberg, Peter, Yigit, Goekhan, Jaeger, Marten, Hecht, Jochen, Krueger, Ulrike, Mielke, Thorsten, Krawitz, Peter M., Horn, Denise, Schuelke, Markus ORCID: 0000-0003-2824-3891, Mundlos, Stefan, Bacino, Carlos A., Bonnen, Penelope E., Wollnik, Bernd, Fischer-Zirnsak, Bjoern and Kornak, Uwe (2017). De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am. J. Hum. Genet., 101 (5). S. 833 - 844. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Elalaoui, Siham Chafai, Fejjal, Nawfal, Li, Yun, Thiele, Holger, Altmueller, Janine, Guaoua, Soukaina, Nuernberg, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Sefiani, Abdelaziz and Ratbi, Ilham (2021). Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report. Pan Afr. Med. J., 39. KAMPALA: AFRICAN FIELD EPIDEMIOLOGY NETWORK-AFENET. ISSN 1937-8688

Erger, Florian ORCID: 0000-0002-2768-1702, Noerling, Deborah, Borchert, Domenica, Leenen, Esther, Habbig, Sandra, Wiesener, Michael S., Bartram, Malte P., Wenzel, Andrea, Becker, Christian, Toliat, Mohammad R., Nuernberg, Peter, Beck, Bodo B. and Altmueller, Janine (2020). cfNOMe- A single assay for comprehensive epigenetic analyses of cell-free DNA. Genome Med., 12 (1). LONDON: BMC. ISSN 1756-994X

Errbii, Mohammed ORCID: 0000-0001-7719-0998, Keilwagen, Jens, Hoff, Katharina J., Steffen, Raphael ORCID: 0000-0003-4947-3899, Altmueller, Janine, Oettler, Jan and Schrader, Lukas (2021). Transposable elements and introgression introduce genetic variation in the invasive ant Cardiocondyla obscurior. Mol. Ecol., 30 (23). S. 6211 - 6229. HOBOKEN: WILEY. ISSN 1365-294X

Fabretti, Francesca, Tschernoster, Nikolai, Erger, Florian, Hedergott, Andrea ORCID: 0000-0002-6398-3919, Buescher, Anja K., Dafinger, Claudia, Reusch, Bjoern, Koentges, Vincent K., Kohl, Stefan, Bartram, Malte P., Weber, Lutz Thorsten, Thiele, Holger, Altmueller, Janine, Schermer, Bernhard, Beck, Bodo B. and Habbig, Sandra (2021). Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling. Kidney Int. Rep., 6 (5). S. 1368 - 1379. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Fazeli, Walid, Becker, Kerstin, Herkenrath, Peter, Duechting, Christoph, Koerber, Friederike, Landgraf, Pablo, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Koy, Anne, Liebau, Max C., Simon, Thorsten, Doetsch, Joerg and Cirak, Sebahattin (2018). Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics, 49 (6). S. 379 - 385. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Fazeli, Walid, Herkenrath, Peter, Stiller, Barbara, Neugebauer, Antje, Fricke, Julia, Lang-Roth, Ruth, Nuernberg, Gudrun, Thoenes, Michaela, Becker, Jutta, Altmueller, Janine, Volk, Alexander E., Kubisch, Christian ORCID: 0000-0003-4220-0978 and Heller, Raoul (2017). A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. Hum. Mol. Genet., 26 (20). S. 4055 - 4067. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Peifer, Martin, George, Julie, De Reynies, Aurelien, Sun, Ruping, Altmueller, Janine, Nuernberg, Peter, Olivier, Magali ORCID: 0000-0002-8202-342X, Ardin, Maude, Blum, Yuna, Laffaire, Julien, Elarouci, Nabila, Petel, Fabien, Mckay, James, Byrnes, Graham, Nagy-Mignotte, Helene, Moro-Sibilot, Denis, Brambilla, Christian, Lantuejoul, Sylvie, Mcleer, Anne, Soltermann, Alex, Brustugun, Odd T., Helland, Aslaug ORCID: 0000-0002-5520-0275, Solberg, Steinar, Lund-Iversen, Marius, Ansen, Sascha, Wright, Gavin, Russell, Prudence A., Solomon, Benjamin J., Roz, Luca ORCID: 0000-0001-5817-7149, Pastorino, Ugo, Petersen, Iver, Clement, Joachim H., Saenger, Joerg, Zander, Thomas, Buettner, Reinhard, Haas, Stefan, Brambilla, Elisabeth and Thomas, Roman K. (2015). Genomic Characterization of Large-Cell Neuroendocrine Lung Tumors. J. Thorac. Oncol., 10 (9). S. S185 - 1. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1556-1380

Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Peifer, Martin ORCID: 0000-0002-5243-5503, Lu, Xin, Sun, Ruping, Ozretic, Luka, Seidel, Danila ORCID: 0000-0003-4388-3117, Zander, Thomas, Leenders, Frauke, George, Julie, Mueller, Christian, Dahmen, Ilona, Pinther, Berit, Bosco, Graziella, Konrad, Kathryn, Altmueller, Janine, Nuernberg, Peter, Achter, Viktor, Lang, Ulrich ORCID: 0000-0001-7166-0805, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Bogus, Magdalena, Soltermann, Alex, Brustugun, Odd Terje, Helland, Aslaug ORCID: 0000-0002-5520-0275, Solberg, Steinar, Lund-Iversen, Marius, Ansen, Sascha, Stoelben, Erich, Wright, Gavin M., Russell, Prudence, Wainer, Zoe, Solomon, Benjamin, Field, John K. ORCID: 0000-0003-3951-6365, Hyde, Russell, Davies, Michael P. A., Heukamp, Lukas C., Petersen, Iver, Perner, Sven, Lovly, Christine M., Cappuzzo, Federico, Travis, William D., Wolf, Juergen, Vingron, Martin, Brambilla, Elisabeth, Haas, Stefan A., Buettner, Reinhard and Thomas, Roman K. (2014). Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids. Nat. Commun., 5. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Sun, Ruping, Menon, Roopika, George, Julie, Lorenz, Susanne, Meza-Zepeda, Leonardo A., Peifer, Martin ORCID: 0000-0002-5243-5503, Plenker, Dennis, Heuckmann, Johannes M., Leenders, Frauke, Zander, Thomas, Dahmen, Ilona, Koker, Mirjam, Schoettle, Jakob, Ullrich, Roland T., Altmueller, Janine, Becker, Christian, Nuernberg, Peter, Seidel, Henrik ORCID: 0000-0001-7804-5143, Boehm, Diana, Goeke, Friederike, Ansen, Sascha, Russell, Prudence A., Wright, Gavin M., Wainer, Zoe, Solomon, Benjamin, Petersen, Iver, Clement, Joachim H. ORCID: 0000-0002-6601-2456, Saenger, Joerg, Brustugun, Odd-Terje, Helland, Aslaug ORCID: 0000-0002-5520-0275, Solberg, Steinar, Lund-Iversen, Marius, Buettner, Reinhard, Wolf, Juergen, Brambilla, Elisabeth, Vingron, Martin, Perner, Sven, Haas, Stefan A. and Thomas, Roman K. (2015). Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data. Genome Biol., 16. LONDON: BIOMED CENTRAL LTD. ISSN 1474-760X

Ferreira, Pedro, Hoefer, Verena, Kronshage, Nora, Marko, Anika, Reusswig, Karl-Uwe, Tetik, Bilal, Diessel, Christoph, Koehler, Kerstin, Tschernoster, Nikolai, Altmueller, Janine, Schulze, Nina, Pfander, Boris and Boos, Dominik (2021). MTBP phosphorylation controls DNA replication origin firing. Sci Rep, 11 (1). BERLIN: NATURE RESEARCH. ISSN 2045-2322

Flegel, Caroline, Schoebel, Nicole, Altmueller, Janine, Becker, Christian, Tannapfel, Andrea, Hatt, Hanns and Gisselmann, Guenter (2015). RNA-Seq Analysis of Human Trigeminal and Dorsal Root Ganglia with a Focus on Chemoreceptors. PLoS One, 10 (6). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Flegel, Caroline, Vogel, Felix, Hofreuter, Adrian, Schreiner, Benjamin S. P., Osthold, Sandra, Veitinger, Sophie, Becker, Christian, Brockmeyer, Norbert H., Muschol, Michael, Wennemuth, Gunther ORCID: 0000-0003-3313-2475, Altmueller, Janine, Hatt, Hanns and Gisselmann, Guenter (2016). Characterization of the Olfactory Receptors Expressed in Human Spermatozoa. Front. Mol. Biosci., 2. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-889X

Flegel, Caroline, Vogel, Felix, Hofreuter, Adrian, Wojcik, Sebastian, Schoeder, Clara, Kiec-Kononowicz, Katarzyna ORCID: 0000-0002-6752-7443, Brockmeyer, Norbert H., Mueller, Christa E., Becker, Christian, Altmueller, Janine, Hatt, Hanns and Gisselmann, Gunter (2016). Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18. Sci Rep, 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Florian, Rahel T., Kraft, Florian ORCID: 0000-0002-5324-9155, Leitao, Elsa ORCID: 0000-0001-5051-9714, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi ORCID: 0000-0003-3036-9266, van Rootselaar, Anne-Fleur ORCID: 0000-0002-8376-9098, Buratti, Julien ORCID: 0000-0002-0901-0905, Kuehnel, Theresa, Schroeder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, lamiral, AnaiDe, Keren, Boris, Nava, Caroline ORCID: 0000-0003-1272-0518, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-Francois, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle ORCID: 0000-0002-2050-3911, Hirsch, Edouard, Kroes, Thessa ORCID: 0000-0003-1416-5407, Reif, Philipp S., Rosenow, Felix, Ganos, Christos ORCID: 0000-0001-8077-8530, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, Berkovic, Samuel F., Bisulli, Francesca, Brancati, Francesco, Canafoglia, Laura, Casari, Giorgio, Guerrini, Renzo, Ishiura, Hiroyuki, Licchetta, Laura, Mei, Davide, Pippucci, Tommaso, Sadleir, Lynette, Scheffer, Ingrid E., Striano, Pasquale ORCID: 0000-0002-6065-1476, Tinuper, Paolo, Tsuji, Shoji, Zara, Federico, LeGuern, Eric, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie ORCID: 0000-0001-5132-0774, Gecz, Jozef ORCID: 0000-0002-7884-6861, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M. and Depienne, Christel (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Nat. Commun., 10. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Fluemann, Ruth, Rehkaemper, Tim, Nieper, Pascal, Pfeiffer, Pauline, Holzem, Alessandra, Klein, Sebastian ORCID: 0000-0002-2188-9377, Bhatia, Sanil ORCID: 0000-0001-6494-7744, Kochanek, Moritz, Kisis, Ilmars ORCID: 0000-0001-6207-3991, Pelzer, Benedikt W., Ahlert, Heinz, Hauer, Julia, Guerreiro, Alexandra da Palma, Ryan, Jeremy A., Reimann, Maurice, Riabinska, Arina, Wiederstein, Janica, Krueger, Marcus, Deckert, Martina, Altmueller, Janine, Klatt, Andreas R., Frenzel, Lukas P., Pasqualucci, Laura, Beguelin, Wendy, Melnick, Ari M., Sander, Sandrine, Montesinos-Rongen, Manuel ORCID: 0000-0003-4724-5526, Brunn, Anna, Lohneis, Philipp, Buettner, Reinhard, Kashkar, Hamid, Borkhardt, Arndt, Letai, Anthony, Persigehl, Thorsten, Peifer, Martin, Schmitt, Clemens A. ORCID: 0000-0002-4731-2226, Reinhardt, Hans Christian and Knittel, Gero ORCID: 0000-0001-8395-3701 (2021). An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities. Blood Cancer Discov., 2 (1). S. 70 - 92. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 2643-3249

Frerichs, Anneke, Engelhorn, Julia, Altmueller, Janine, Gutierrez-Marcos, Jose ORCID: 0000-0002-5441-9080 and Werr, Wolfgang (2019). Specific chromatin changes mark lateral organ founder cells in the Arabidopsis inflorescence meristem. J. Exp. Bot., 70 (15). S. 3867 - 3880. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2431

Gangfuss, Andrea ORCID: 0000-0002-9975-0092, Yigit, Goekhan, Altmueller, Janine, Nuernberg, Peter, Czeschik, Johanna Christina, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Boegershausen, Nina, Burfeind, Peter, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Kaiser, Frank, Roos, Andreas, Koelbel, Heike, Schara-Schmidt, Ulrike and Kuechler, Alma (2021). Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study. Am. J. Med. Genet. A, 185 (4). S. 1216 - 1222. HOBOKEN: WILEY. ISSN 1552-4833

Gao, Jie ORCID: 0000-0002-5229-9249, Schatton, Desiree, Martinelli, Paola, Hansen, Henriette, Pla-Martin, David, Barth, Esther, Becker, Christian, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Sardiello, Marco and Rugarli, Elena I. ORCID: 0000-0002-5782-1067 (2014). CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins. J. Cell Biol., 207 (2). S. 213 - 224. NEW YORK: ROCKEFELLER UNIV PRESS. ISSN 1540-8140

Gardella, Elena ORCID: 0000-0002-7138-6022, Becker, Felicitas, Moller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Thiele, Holger, Altmueller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nuernberg, Peter, Mang, Yuan, Moller, Louise Bakke, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels ORCID: 0000-0003-2304-0112, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sandor ORCID: 0000-0002-6035-6581 and Weber, Yvonne G. (2016). Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation. Ann. Neurol., 79 (3). S. 428 - 437. HOBOKEN: WILEY. ISSN 1531-8249

George, Julie, Lim, Jing Shan, Jang, Se Jin, Cun, Yupeng ORCID: 0000-0002-4241-8099, Ozretic, Luka, Kong, Gu, Leenders, Frauke, Lu, Xin, Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Bosco, Graziella, Mueller, Christian, Dahmen, Ilona, Jahchan, Nadine S., Park, Kwon-Sik, Yang, Dian, Karnezis, Anthony N., Vaka, Dedeepya ORCID: 0000-0001-7951-5514, Torres, Angela, Wang, Maia Segura, Korbel, Jan O., Menon, Roopika, Chun, Sung-Min ORCID: 0000-0002-3357-1382, Kim, Deokhoon, Wilkerson, Matt, Hayes, Neil, Engelmann, David, Puetzer, Brigitte, Bos, Marc, Michels, Sebastian, Vlasic, Ignacija, Seidel, Danila ORCID: 0000-0003-4388-3117, Pinther, Berit, Schaub, Philipp, Becker, Christian, Altmueller, Janine, Yokota, Jun, Kohno, Takashi, Iwakawa, Reika, Tsuta, Koji, Noguchi, Masayuki, Muley, Thomas, Hoffmann, Hans, Schnabel, Philipp A., Petersen, Iver, Chen, Yuan, Soltermann, Alex, Tischler, Verena ORCID: 0000-0002-6673-8329, Choi, Chang-min, Kim, Yong-Hee, Massion, Pierre P., Zou, Yong, Jovanovic, Dragana, Kontic, Milica, Wright, Gavin M., Russell, Prudence A., Solomon, Benjamin, Koch, Ina, Lindner, Michael, Muscarella, Lucia A., la Torre, Annamaria ORCID: 0000-0003-4199-1077, Field, John K. ORCID: 0000-0003-3951-6365, Jakopovic, Marko, Knezevic, Jelena, Castanos-Velez, Esmeralda ORCID: 0000-0002-2670-1118, Roz, Luca ORCID: 0000-0001-5817-7149, Pastorino, Ugo ORCID: 0000-0001-9974-7902, Brustugun, Odd-Terje, Lund-Iversen, Marius, Thunnissen, Erik, Koehler, Jens, Schuler, Martin, Botling, Johan, Sandelin, Martin ORCID: 0000-0002-0370-8819, Sanchez-Cespedes, Montserrat, Salvesen, Helga B., Achter, Viktor, Lang, Ulrich ORCID: 0000-0001-7166-0805, Bogus, Magdalena, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Zander, Thomas, Ansen, Sascha, Hallek, Michael, Wolf, Juergen, Vingron, Martin, Yatabe, Yasushi ORCID: 0000-0003-1788-559X, Travis, William D., Nuernberg, Peter, Reinhardt, Christian, Perner, Sven, Heukamp, Lukas ORCID: 0000-0002-3388-3482, Buettner, Reinhard, Haas, Stefan A., Brambilla, Elisabeth, Peifer, Martin ORCID: 0000-0002-5243-5503, Sage, Julien and Thomas, Roman K. (2015). Comprehensive genomic profiles of small cell lung cancer. Nature, 524 (7563). S. 47 - 54. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-4687

Gerbracht, Jennifer, V, Boehm, Volker, Britto-Borges, Thiago, Kallabis, Sebastian, Wiederstein, Janica L., Ciriello, Simona, Aschemeier, Dominik U., Krueger, Marcus, Frese, Christian K., Altmueller, Janine, Dieterich, Christoph and Gehring, Niels H. ORCID: 0000-0001-7792-1164 (2020). CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex. Nucleic Acids Res., 48 (15). S. 8626 - 8645. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Pisciotta, Livia, De Grandis, Elisa, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G. (2018). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am. J. Hum. Genet., 103 (3). S. 431 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Gizak, Agnieszka ORCID: 0000-0001-9367-0270, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wisniewski, Janusz, Duda, Przemyslaw ORCID: 0000-0001-5207-4157, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Hoehne, Wolfgang, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Rakus, Dariusz ORCID: 0000-0002-3823-3163, Gaertner, Jutta and Huppke, Peter (2021). A novel remitting leukodystrophy associated with a variant in FBP2. Brain Commun., 3 (2). OXFORD: OXFORD UNIV PRESS. ISSN 2632-1297

Goenenc, Ipek Ilgin, Elcioglu, Nursel H., Grijalva, Carolina Martinez, Aras, Seda, Grossmann, Nadine, Praulich, Inka, Altmueller, Janine, Kaulfuss, Silke, Li, Yun, Nuernberg, Peter, Burfeind, Peter, Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome. Clin. Genet., 101 (5-6). S. 559 - 565. HOBOKEN: WILEY. ISSN 1399-0004

Gollasch, Benjamin, Basmanav, Fitnat Buket, Nanda, Arti ORCID: 0000-0002-1223-3181, Fritz, Guenter ORCID: 0000-0002-4571-8812, Mahmoudi, Hassnaa, Thiele, Holger, Wehner, Maria, Wolf, Sabrina, Altmueller, Janine, Nuernberg, Peter, Frank, Jorge and Betz, Regina C. (2015). Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. Am. J. Med. Genet. A, 167 (11). S. 2555 - 2563. HOBOKEN: WILEY. ISSN 1552-4833

Goncalves, Ines do Carmo G., Brecht, Johanna, Thelen, Maximilian P., Rehorst, Wiebke A., Peters, Miriam, Lee, Hyun Ju, Motameny, Susanne, Torres-Benito, Laura, Ebrahimi-Fakhari, Darius ORCID: 0000-0002-0026-4714, Kononenko, Natalia L., Altmueller, Janine, Vilchez, David ORCID: 0000-0002-0801-0743, Sahin, Mustafa, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Kye, Min Jeong ORCID: 0000-0002-1323-7256 (2018). Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Goncalves, Ines do Carmo G., Brecht, Johanna, Thelen, Maximilian P., Rehorst, Wiebke A., Peters, Miriam, Lee, Hyun Ju, Motameny, Susanne, Torres-Benito, Laura, Ebrahimi-Fakhari, Darius ORCID: 0000-0002-0026-4714, Kononenko, Natalia L., Altmueller, Janine, Vilchez, David, Sahin, Mustafa, Wirth, Brunhilde and Kye, Min Jeong (2018). Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy (vol 8, 7907, 2018). Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Gordon, Christopher T., Xue, Shifeng ORCID: 0000-0002-4668-5952, Yigit, Goekhan, Filali, Hicham ORCID: 0000-0003-3352-740X, Chen, Kelan ORCID: 0000-0003-1973-5405, Rosins, Nadine, Yoshiura, Koh-ichiro, Oufadem, Myriam, Beck, Tamara J., McGowan, Ruth, Magee, Alex C., Altmueller, Janine, Dion, Camille, Thiele, Holger, Gurzau, Alexandra D., Nuernberg, Peter, Meschede, Dieter, Muehlbauer, Wolfgang, Okamoto, Nobuhiko, Varghese, Vinod, Irving, Rachel, Sigaudy, Sabine, Williams, Denise, Ahmed, S. Faisal, Bonnard, Carine, Kong, Mung Kei, Ratbi, Ilham, Fejjal, Nawfal, Fikri, Meriem, Elalaoui, Siham Chafai, Reigstad, Hallvard, Bole-Feysot, Christine, Nitschke, Patrick, Ragge, Nicola, Levy, Nicolas, Tuncbilek, Goekhan, Teo, Audrey S. M., Cunningham, Michael L., Sefiani, Abdelaziz, Kayserili, Huelya, Murphy, James M., Chatdokmaiprai, Chalermpong, Hillmer, Axel M., Wattanasirichaigoon, Duangrurdee, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Magdinier, Frederique ORCID: 0000-0002-0159-9559, Javed, Asif, Blewitt, Marnie E., Amiel, Jeanne, Wollnik, Bernd and Reversade, Bruno (2017). De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genet., 49 (2). S. 249 - 256. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Goulielmaki, Evi, Ioannidou, Anna, Tsekrekou, Maria ORCID: 0000-0002-0635-1499, Stratigi, Kalliopi, Poutakidou, Ioanna K., Gkirtzimanaki, Katerina, Aivaliotis, Michalis ORCID: 0000-0003-1173-7705, Evangelou, Konstantinos, Topalis, Pantelis, Altmueller, Janine, Gorgoulis, Vassilis G., Chatzinikolaou, Georgia and Garinis, George A. ORCID: 0000-0002-3200-5004 (2020). Tissue-infiltrating macrophages mediate an exosome-based metabolic reprogramming upon DNA damage. Nat. Commun., 11 (1). LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Grau, Jose Horacio, Hilgers, Leon, Altmueller, Janine, Slechtova, Vendula and Bohlenc, Joerg (2017). The complete mitochondrial transcript of the red tail loach Yasuhikotakia modesta as assembled from RNAseq (Teleostei: Botiidae). Mitochondrial DNA Part B-Resour., 2 (1). S. 46 - 48. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 2380-2359

Grimm, Christina ORCID: 0000-0002-4676-8870, Fischer, Axel ORCID: 0000-0001-6130-6984, Farrelly, Angela M., Kalachand, Roshni, Castiglione, Roberta ORCID: 0000-0002-9828-4405, Wasserburger, Elena, Hussong, Michelle, Schultheis, Anne M., Altmueller, Janine, Thiele, Holger, Reinhardt, H. Christian, Hauschulz, Kai, Hennessy, Bryan T., Herwig, Ralf, Lienhard, Matthias, Buettner, Reinhard and Schweiger, Michal R. (2019). Combined Targeted Resequencing of Cytosine DNA Methylation and Mutations of DNA Repair Genes with Potential Use for Poly(ADP-Ribose) Polymerase 1 Inhibitor Sensitivity Testing. J. Mol. Diagn., 21 (2). S. 198 - 214. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1943-7811

Hackl, Agnes, Erger, Florian ORCID: 0000-0002-2768-1702, Skerka, Christine, Wenzel, Andrea, Tschernoster, Nikolai, Ehren, Rasmus, Burgmaier, Kathrin, Riehmer, Vera, Licht, Christoph, Kirschfink, Michael, Weber, Lutz T., Altmueller, Janine, Zipfel, Peter F. and Habbig, Sandra (2020). Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies. Clin. Nephrol., 94 (4). S. 197 - 207. DEISENHOFEN-MUENCHEN: DUSTRI-VERLAG DR KARL FEISTLE. ISSN 0301-0430

Hahnen, Eric, Lederer, Bianca ORCID: 0000-0002-4512-2226, Hauke, Jan, Loibl, Sibylle, Kroeber, Sandra, Schneeweiss, Andreas, Denkert, Carsten, Fasching, Peter A., Blohmer, Jens U., Jackisch, Christian, Paepke, Stefan, Gerber, Bernd, Kuemmel, Sherko, Schem, Christian, Neidhardt, Guido, Huober, Jens, Rhiem, Kerstin, Costa, Serban, Altmueller, Janine, Hanusch, Claus, Thiele, Holger, Mueller, Volkmar, Nuernberg, Peter, Karn, Thomas ORCID: 0000-0002-3264-6573, Nekljudova, Valentina, Untch, Michael, von Minckwitz, Gunter and Schmutzler, Rita K. (2017). Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer Secondary Analysis of the GeparSixto Randomized Clinical Trial. JAMA Oncol., 3 (10). S. 1378 - 1386. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

Hanses, Ulrich, Kleinsorge, Mandy, Roos, Lennart, Yigit, Goekhan, Li, Yun, Barbarics, Boris, El-Battrawy, Ibrahim, Lan, Huan, Tiburcy, Malte, Hindmarsh, Robin, Lenz, Christof, Salinas, Gabriela, Diecke, Sebastian, Mueller, Christian, Adham, Ibrahim, Altmueller, Janine, Nuernberg, Peter, Paul, Thomas, Zimmermann, Wolfram-Hubertus, Hasenfuss, Gerd, Wollnik, Bernd and Cyganek, Lukas ORCID: 0000-0001-9120-1382 (2020). Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy. Circulation, 142 (11). S. 1059 - 1077. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1524-4539

Harley, Margaret E., Murina, Olga ORCID: 0000-0003-1650-2892, Leitch, Andrea, Higgs, Martin R., Bicknell, Louise S., Yigit, Goekhan, Blackford, Andrew N., Zlatanou, Anastasia, Mackenzie, Karen J., Reddy, Kaalak, Halachev, Mihail, McGlasson, Sarah ORCID: 0000-0002-0077-0991, Reijns, Martin A. M., Fluteau, Adeline, Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Sabbioneda, Simone ORCID: 0000-0001-8551-5465, Elcioglu, Nursel H., Altmueller, Janine, Thiele, Holger, Greenhalgh, Lynn, Chessa, Luciana, Maghnie, Mohamad, Salim, Mahmoud, Bober, Michael B., Nuernberg, Peter, Jackson, Stephen P., Hurles, Matthew E., Wollnik, Bernd, Stewart, Grant S. and Jackson, Andrew P. (2016). TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nature Genet., 48 (1). S. 36 - 46. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Harr, Bettina, Karakoc, Emre, Neme, Rafik ORCID: 0000-0001-8462-5291, Teschke, Meike, Pfeifle, Christine, Pezer, Zeljka, Babiker, Hiba, Linnenbrink, Miriam, Montero, Inka, Scavetta, Rick, Abai, Mohammad Reza, Puente Molins, Marta, Schlegel, Mathias, Ulrich, Rainer G., Altmueller, Janine, Franitza, Marek, Buentge, Anna, Kuenzel, Sven and Tautz, Diethard ORCID: 0000-0002-0460-5344 (2016). Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretus. Sci. Data, 3. LONDON: NATURE PUBLISHING GROUP. ISSN 2052-4463

Harter, Philipp, Hauke, Jan, Heitz, Florian ORCID: 0000-0002-2412-0352, Reuss, Alexander, Kommoss, Stefan, Marme, Frederik, Heimbach, Andre, Prieske, Katharina, Richters, Lisa, Burges, Alexander, Neidhardt, Guido, de Gregorio, Nikolaus, El-Balat, Ahmed, Hilpert, Felix, Meier, Werner, Kimmig, Rainer, Kast, Karin, Sehouli, Jalid, Baumann, Klaus, Jackisch, Christian, Park-Simon, Tjoung-Won, Hanker, Lars, Kroeber, Sandra, Pfisterer, Jacobus, Gevensleben, Heidrun, Schnelzer, Andreas, Dietrich, Dimo, Neunhoeffer, Tanja, Krockenberger, Mathias, Brucker, Sara Y., Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Lamla, Josefin, Elser, Gabriele, du Bois, Andreas, Hahnen, Eric and Schmutzler, Rita (2017). Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PLoS One, 12 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Hatzold, Julia ORCID: 0000-0002-5491-1921, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Herzig, Hannah, Altmueller, Janine, Nuernberg, Peter, Bloch, Wilhelm, Wollnik, Bernd and Hammerschmidt, Matthias (2016). Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit. eLife, 5. CAMBRIDGE: ELIFE SCIENCES PUBLICATIONS LTD. ISSN 2050-084X

Hauke, Jan, Hahnen, Eric, Schneider, Stephanie, Reuss, Alexander, Richters, Lisa, Kommoss, Stefan, Heimbach, Andre, Marme, Frederik, Schmidt, Sandra, Prieske, Katharina, Gevensleben, Heidrun, Burges, Alexander, Borde, Julika, De Gregorio, Nikolaus, Nuernberg, Peter, El-Balat, Ahmed, Thiele, Holger, Hilpert, Felix, Altmueller, Janine, Meier, Werner, Dietrich, Dimo, Kimmig, Rainer, Schoemig-Markiefka, Birgid, Kast, Karin, Braicu, Elena, Baumann, Klaus, Jackisch, Christian, Park-Simon, Tjoung-Won, Ernst, Corinna, Hanker, Lars, Pfisterer, Jacobus, Schnelzer, Andreas, du Bois, Andreas, Schmutzler, Rita K. and Harter, Philipp (2019). Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883). J. Med. Genet., 56 (9). S. 574 - 581. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Hauke, Jan, Horvath, Judit, Gross, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert ORCID: 0000-0003-4523-8808, Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang-Gohrke, Shan, Smogavec, Mateja, Weber, Bernhard H. F., Weber-Lassalle, Nana, Weber-Lassalle, Konstantin, Borde, Julika, Ernst, Corinna, Altmueller, Janine, Volk, Alexander E., Thiele, Holger, Huebbel, Verena, Nuernberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian ORCID: 0000-0003-4220-0978, Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian ORCID: 0000-0001-9915-1287, Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2018). Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Med., 7 (4). S. 1349 - 1359. HOBOKEN: WILEY. ISSN 2045-7634

Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Roesler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmueller, Janine, Motameny, Susanne, Nuernberg, Gudrun, Nuernberg, Peter, Hahnen, Eric and Beck, Bodo B. (2013). A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype. PLoS One, 8 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Heide, Timon, Maurer, Angela, Eipel, Monika, Knoll, Katrin, Geelvink, Mirja, Veeck, Juergen, Knuechel, Ruth, van Essen, Julius, Stoehr, Robert, Hartmann, Arndt, Altmueller, Janine, Graham, Trevor A. and Gaisa, Nadine T. (2019). Multiregion human bladder cancer sequencing reveals tumour evolution, bladder cancer phenotypes and implications for targeted therapy. J. Pathol., 248 (2). S. 230 - 243. HOBOKEN: WILEY. ISSN 1096-9896

Herberg, Maria, Siebert, Susann, Quaas, Marianne, Thalheim, Torsten, Rother, Karen, Hussong, Michelle, Altmueller, Janine, Kerner, Christiane, Galle, Joerg, Schweiger, Michal R. and Aust, Gabriela (2019). Loss of Msh2 and a single-radiation hit induce common, genome-wide, and persistent epigenetic changes in the intestine. Clin. Epigenetics, 11. LONDON: BMC. ISSN 1868-7083

Herling, Carmen D., Abedpour, Nima, Weiss, Jonathan, Schmitt, Anna, Jachimowicz, Ron Daniel, Merkel, Olaf ORCID: 0000-0001-5089-344X, Cartolano, Maria, Oberbeck, Sebastian, Mayer, Petra, Berg, Valeska, Thomalla, Daniel, Kutsch, Nadine, Stiefelhagen, Marius, Cramer, Paula, Wendtner, Clemens-Martin ORCID: 0000-0003-2866-2260, Persigehl, Thorsten, Saleh, Andreas, Altmueller, Janine, Nuernberg, Peter, Pallasch, Christian, Achter, Viktor, Lang, Ulrich, Eichhorst, Barbara, Castiglione, Roberta ORCID: 0000-0002-9828-4405, Schaefer, Stephan C., Buettner, Reinhard, Kreuzer, Karl-Anton, Reinhardt, Hans Christian, Hallek, Michael, Frenzel, Lukas P. and Peifer, Martin ORCID: 0000-0002-5243-5503 (2018). Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia. Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Herling, Carmen Diana, Klaumuenzer, Marion, Rocha, Cristiano Krings, Altmueller, Janine, Thiele, Holger, Bahlo, Jasmin, Kluth, Sandra, Crispatzu, Giuliano, Herling, Marco, Schiller, Joanna, Engelke, Anja, Tausch, Eugen, Doehner, Hartmut, Fischer, Kirsten, Goede, Valentin, Nuernberg, Peter, Reinhardt, Hans Christian, Stilgenbauer, Stephan, Hallek, Michael and Kreuzer, Karl-Anton (2016). Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy. Blood, 128 (3). S. 395 - 405. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Hilgers, Leon ORCID: 0000-0002-3539-2513, Roth, Olivia, Nolte, Arne W., Schueller, Alina, Spanke, Tobias, Flury, Jana M., Utama, Ilham, V, Altmueller, Janine, Wowor, Daisy, Misof, Bernhard, Herder, Fabian, Boehne, Astrid and Schwarzer, Julia (2022). Inflammation and convergent placenta gene co-option contributed to a novel reproductive tissue. Curr. Biol., 32 (3). S. 715 - 730. CAMBRIDGE: CELL PRESS. ISSN 1879-0445

Hollenhorst, Monika I., Jurastow, Innokentij, Nandigama, Rajender ORCID: 0000-0002-7344-4732, Appenzeller, Silke, Li, Lei, Vogel, Joerg, Wiederhold, Stephanie, Althaus, Mike ORCID: 0000-0002-3554-7538, Empting, Martin, Altmueller, Janine, Hirsch, Anna K. H., Flockerzi, Veit, Canning, Brendan J., Saliba, Antoine-Emmanuel and Krasteva-Christ, Gabriela ORCID: 0000-0002-0113-521X (2020). Tracheal brush cells release acetylcholine in response to bitter tastants for paracrine and autocrine signaling. Faseb J., 34 (1). S. 316 - 333. BETHESDA: FEDERATION AMER SOC EXP BIOL. ISSN 1530-6860

Horpaopan, Sukanya, Kirfel, Jutta, Peters, Sophia, Kloth, Michael, Hueneburg, Robert, Altmueller, Janine, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Odenthal, Margarete, Kristiansen, Glen, Strassburg, Christian, Nattermann, Jacob, Hoffmann, Per, Nuernberg, Peter, Buettner, Reinhard, Thiele, Holger, Kahl, Philip, Spier, Isabel and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2017). Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS). Hered. Cancer Clin. Pract., 15. LONDON: BIOMED CENTRAL LTD. ISSN 1897-4287

Horpaopan, Sukanya, Spier, Isabel, Zink, Alexander M., Altmueller, Janine, Holzapfel, Stefanie, Laner, Andreas, Vogt, Stefanie, Uhlhaas, Siegfried, Heilmann, Stefanie, Stienen, Dietlinde, Pasternack, Sandra M., Keppler, Kathleen, Adam, Ronja, Kayser, Katrin, Moebus, Susanne, Draaken, Markus ORCID: 0000-0002-4546-0786, Degenhardt, Franziska, Engels, Hartmut, Hofmann, Andrea, Noethen, Markus M., Steinke, Verena, Perez-Bouza, Alberto, Herms, Stefan ORCID: 0000-0002-2786-8200, Holinski-Feder, Elke, Froehlich, Holger, Thiele, Holger, Hoffmann, Per and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2015). Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Int. J. Cancer, 136 (6). S. E578 - 12. HOBOKEN: WILEY. ISSN 1097-0215

Horpaopan, Sukanya, Spier, Isabel, Zink, Alexander M., Altmueller, Janine, Holzapfel, Stefanie, Laner, Andreas, Vogt, Stefanie, Uhlhaas, Siegfried, Heilmann, Stefanie, Stienen, Dietlinde, Pasternack, Sandra M., Keppler, Kathleen, Adam, Ronja, Kayser, Katrin, Moebus, Susanne, Draaken, Markus ORCID: 0000-0002-4546-0786, Degenhardt, Franziska, Engels, Hartmut, Hofmann, Andrea, Noethen, Markus M., Steinke, Verena, Perez-Bouza, Alberto, Herms, Stefan ORCID: 0000-0002-2786-8200, Holinski-Feder, Elke, Froehlich, Holger, Thiele, Holger, Hoffmann, Per and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2015). Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Int. J. Cancer, 136 (6). S. E578 - 12. HOBOKEN: WILEY. ISSN 1097-0215

Huebers, Annemarie, Just, Walter, Rosenbohm, Angela, Mueller, Kathrin, Marroquin, Nicolai, Goebel, Ingrid, Hoegel, Josef, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Weishaupt, Jochen H., Kubisch, Christian ORCID: 0000-0003-4220-0978, Ludolph, Albert C. and Volk, Alexander E. (2015). De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiol. Aging, 36 (11). NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-1497

Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kuehn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Mueller, Michael and Gaertner, Jutta (2017). Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat. Commun., 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Hussain, Muhammad S., Baig, Shahid M., Neumann, Sascha, Peche, Vivek S., Szczepanski, Sandra, Nuernberg, Gudrun, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Jameel, Muhammad, Khan, Tahir N., Fatima, Ambrin, Malik, Naveed A., Ahmad, Ilyas, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Thiele, Holger, Hoehne, Wolfgang, Yigit, Goekhan, Wollnik, Bernd, Neubauer, Bernd A., Nuernberg, Peter and Noegel, Angelika A. (2013). CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum. Mol. Genet., 22 (25). S. 5199 - 5215. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Battaglia, Agatino ORCID: 0000-0002-7128-7606, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi ORCID: 0000-0001-8983-2249, Altmueller, Janine, Thiele, Holger, Nuernberg, Gudrun, Moosa, Shahida ORCID: 0000-0002-4463-3067, Yigit, Goekhan, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda ORCID: 0000-0001-9317-8155, Brancati, Francesco, Dobbie, Angus, Smigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G. and Nuernberg, Peter (2014). Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome. Am. J. Hum. Genet., 95 (5). S. 622 - 633. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Iqbal, Maria, Maroofian, Reza, Cavdarli, Busranur, Riccardi, Florence ORCID: 0000-0002-7223-2172, Field, Michael, Banka, Siddharth ORCID: 0000-0002-8527-2210, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Abdullah, Uzma ORCID: 0000-0002-7168-8266, Makhdoom, Ehtisham Ul Haq, Ali, Zafar ORCID: 0000-0002-2389-3337, de Almeida, Tobias Scherf, Molinari, Florence ORCID: 0000-0001-5111-7215, Mignon-Ravix, Cecile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara ORCID: 0000-0002-6719-3447, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz ORCID: 0000-0003-3207-4074, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit ORCID: 0000-0001-9385-4168, Altmueller, Janine, Motameny, Susanne, Hoehne, Wolfgang, Houlden, Henry, Nuernberg, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Villard, Laurent ORCID: 0000-0001-6657-5008, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 and Yigit, Gokhan ORCID: 0000-0003-2777-0198 (2021). Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies. Genet. Med., 23 (11). S. 2138 - 2150. LONDON: SPRINGERNATURE. ISSN 1530-0366

Irmak, Dilber, Fatima, Azra, Gutierrez-Garcia, Ricardo, Rinschen, Markus M., Wagle, Prerana, Altmueller, Janine, Arrigoni, Laura, Hummel, Barbara ORCID: 0000-0001-6563-3675, Klein, Corinna, Frese, Christian K., Sawarkar, Ritwick, Rada-Iglesias, Alvaro ORCID: 0000-0001-7137-1341 and Vilchez, David ORCID: 0000-0002-0801-0743 (2018). Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations. Hum. Mol. Genet., 27 (23). S. 4117 - 4135. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Jabbari, Kamel, Bobbili, Dheeraj R., Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Sinha, Vishal, Motameny, Susanne, Thiele, Holger, Kawalia, Amit, Altmueller, Janine, Toliat, Mohammad Reza, Kraaij, Robert, van Rooij, Jeroen, Uitterlinden, Andre G., Ikram, M. Arfan, Zara, Federico, Lehesjoki, Anna-Elina, Krause, Roland, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Sander, Thomas, Neubauer, Bernd A., May, Patrick ORCID: 0000-0001-8698-3770, Lerche, Holger and Nuernberg, Peter (2018). Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One, 13 (8). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Jiang, Hong, Gallet, Sarah, Klemm, Paul ORCID: 0000-0002-5985-1737, Scholl, Pia, Folz-Donahue, Kat, Altmueller, Janine, Alber, Jens, Heilinger, Christian, Kukat, Christian ORCID: 0000-0003-1508-0229, Loyens, Anne, Mueller-Fielitz, Helge, Sundaram, Sivaraj, Schwaninger, Markus, Prevot, Vincent ORCID: 0000-0001-7185-3615 and Bruening, Jens C. (2020). MCH Neurons Regulate Permeability of the Median Eminence Barrier. Neuron, 107 (2). S. 306 - 329. CAMBRIDGE: CELL PRESS. ISSN 1097-4199

Johnsen, Marc, Kubacki, Torsten, Yeroslaviz, Assa, Spaeth, Martin Richard, Moersdorf, Jannis, Gobel, Heike, Bohl, Katrin, Ignarski, Michael ORCID: 0000-0001-6057-7694, Meharg, Caroline, Habermann, Bianca ORCID: 0000-0002-2457-7504, Altmueller, Janine, Beyer, Andreas ORCID: 0000-0002-3891-2123, Benzing, Thomas, Schermer, Bernhard, Burst, Volker and Mueller, Roman-Ulrich (2020). The Integrated RNA Landscape of Renal Preconditioning against Ischemia-Reperfusion Injury. J. Am. Soc. Nephrol., 31 (4). S. 716 - 731. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Jurkute, Neringa ORCID: 0000-0002-3092-7451, Leu, Costin, Pogoda, Hans-Martin, Arno, Gavin, Robson, Anthony G., Nuernberg, Gudrun, Altmueller, Janine, Thiele, Holger, Motameny, Susanne, Toliat, Mohammad Reza, Powell, Kate, Hoehne, Wolfgang, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Hammerschmidt, Matthias, Nuernberg, Peter, Yu-Wai-Man, Patrick and Votruba, Marcela ORCID: 0000-0002-7680-9135 (2019). SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann. Neurol., 86 (3). S. 368 - 384. HOBOKEN: WILEY. ISSN 1531-8249

Kakar, Naseebullah, Ahmad, Jamil, Morris-Rosendahl, Deborah J., Altmueller, Janine, Friedrich, Katrin, Barbi, Gotthold, Nuernberg, Peter, Kubisch, Christian ORCID: 0000-0003-4220-0978, Dobyns, William B. and Borck, Guntram (2015). STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum. Genet., 134 (1). S. 45 - 52. NEW YORK: SPRINGER. ISSN 1432-1203

Kalasova, Ilona ORCID: 0000-0001-8235-1805, Hanzlikova, Hana ORCID: 0000-0001-7235-7269, Gupta, Neerja, Li, Yun, Altmueller, Janine, Reynolds, John J., Stewart, Grant S., Wollnik, Bernd, Yigit, Goekhan and Caldecott, Keith W. (2019). Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ. Neurol.-Genet., 5 (2). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

Kalbe, Benjamin, Osterloh, Markus, Schulz, Viola M., Altmueller, Janine, Becker, Christian, Osterloh, Sabrina and Hatt, Hanns (2018). OR2H2 regulates the differentiation of human myoblast cells by its ligand aldehyde 13-13. Arch. Biochem. Biophys., 645. S. 72 - 81. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1096-0384

Kanageswaran, Ninthujah, Demond, Marilen, Nagel, Maximilian, Schreiner, Benjamin S. P., Baumgart, Sabrina, Scholz, Paul, Altmueller, Janine, Becker, Christian, Doerner, Julia F., Conrad, Heike, Oberland, Sonja, Wetzel, Christian H., Neuhaus, Eva M. ORCID: 0000-0003-3363-1231, Hatt, Hanns and Gisselmann, Guenter (2015). Deep Sequencing of the Murine Olfactory Receptor Neuron Transcriptome. PLoS One, 10 (1). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Kanber, Deniz, Woestefeld, Julia, Doepper, Hannah, Bozet, Morgane, Brenzel, Alexandra, Altmueller, Janine, Kilpert, Fabian, Lohmann, Dietmar, Pommerenke, Claudia and Steenpass, Laura (2022). RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation. Cancers, 14 (9). BASEL: MDPI. ISSN 2072-6694

Karakaya, Mert, Paketci, Cem ORCID: 0000-0003-3587-6830, Altmueller, Janine, Thiele, Holger, Hoelker, Irmgard, Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Am. J. Med. Genet. A, 179 (8). S. 1580 - 1585. HOBOKEN: WILEY. ISSN 1552-4833

Karakaya, Mert ORCID: 0000-0001-5395-8894, Storbeck, Markus, Strathmann, Eike A., Delle Vedove, Andrea, Hoelker, Irmgard, Altmueller, Janine, Naghiyeva, Leyla, Schmitz-Steinkrueger, Lea, Vezyroglou, Katharina, Motameny, Susanne, Alawbathani, Salem, Thiele, Holger, Polat, Ayse Ipek, Okur, Derya, Boostani, Reza, Karimiani, Ehsan Ghayoor, Wunderlich, Gilbert, Ardicli, Didem, Topaloglu, Haluk, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schrank, Bertold, Maroofian, Reza, Magnusson, Olafur, Yis, Uluc, Nuernberg, Peter, Heller, Raoul and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum. Mutat., 39 (9). S. 1284 - 1299. HOBOKEN: WILEY. ISSN 1098-1004

Kargapolova, Yulia ORCID: 0000-0001-7541-5778, Rehimi, Rizwan, Kayserili, Huelya, Bruehl, Joanna, Sofiadis, Konstantinos, Zirkel, Anne, Palikyras, Spiros, Mizi, Athanasia, Li, Yun, Yigit, Goekhan, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Frank, Stefan, Russ, Nicole, Trautwein, Jonathan, van Bon, Bregje, Gilissen, Christian ORCID: 0000-0003-1693-9699, Laugsch, Magdalena, Gusmao, Eduardo Gade, Josipovic, Natasa ORCID: 0000-0001-7683-0869, Altmueller, Janine, Nuernberg, Peter, Laengst, Gernot, Kaiser, Frank J., Watrin, Erwan, Brunner, Han, Rada-Iglesias, Alvaro ORCID: 0000-0001-7137-1341, Kurian, Leo ORCID: 0000-0001-7466-5169, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Bouazoune, Karim and Papantonis, Argyris (2021). Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology. Nat. Commun., 12 (1). BERLIN: NATURE RESEARCH. ISSN 2041-1723

Kause, Franziska, Reutter, Heiko, Marsch, Florian, Thiele, Holger, Altmueller, Janine, Ludwig, Michael and Zhang, Rong (2018). Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio-otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? Mol. Med. Rep., 17 (2). S. 3200 - 3206. ATHENS: SPANDIDOS PUBL LTD. ISSN 1791-3004

Kause, Franziska ORCID: 0000-0002-0074-8962, Zhang, Rong, Ludwig, Michael, Schmiedeke, Eberhard, Rissmann, Anke, Thiele, Holger, Altmueller, Janine, Herms, Stefan, Hilger, Mina C., Hildebrandt, Friedhelm and Reutter, Heiko (2019). HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res., 111 (10). S. 591 - 598. HOBOKEN: WILEY. ISSN 2472-1727

Keller, Natalie, Paketci, Cem, Altmueller, Janine, Fuhrmann, Nico, Wunderlich, Gilbert, Schrank, Bertold, Unver, Olcay, Yilmaz, Sanem, Boostani, Reza, Karimiani, Ehsan Ghayoor, Motameny, Susanne, Thiele, Holger, Nuernberg, Peter, Maroofian, Reza, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert (2021). Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum. Mutat., 42 (4). S. 460 - 473. HOBOKEN: WILEY. ISSN 1098-1004

Khan, Arif O., Becirovic, Elvir ORCID: 0000-0001-8801-0649, Betz, Christian, Neuhaus, Christine, Altmueller, Janine, Riedmayr, Lisa Maria, Motameny, Susanne, Nuernberg, Gudrun, Nuernberg, Peter and Bolz, Hanno J. (2017). A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Sci Rep, 7. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Khan, Muzammil A., Rupp, Verena M., Orpinell, Meritxell, Hussain, Muhammad S., Altmueller, Janine, Steinmetz, Michel O., Enzinger, Christian, Thiele, Holger, Hoehne, Wolfgang, Nuernberg, Gudrun, Baig, Shahid M., Ansar, Muhammad ORCID: 0000-0001-5891-7063, Nuernberg, Peter, Vincent, John B., Speicher, Michael R., Goenczy, Pierre and Windpassinger, Christian (2014). A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum. Mol. Genet., 23 (22). S. 5940 - 5950. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Khuller, Katharina, Yigit, Goekhan, Grijalva, Carolina Martinez, Altmueller, Janine, Thiele, Holger, Nurnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Koeninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd ORCID: 0000-0003-2589-0364 and Kuechler, Alma (2021). MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease. Eur. J. Med. Genet., 64 (10). AMSTERDAM: ELSEVIER. ISSN 1878-0849

Kirschner, K. Gwendolyn, Rosignoli, Serena ORCID: 0000-0002-4319-8761, Guo, Li ORCID: 0000-0003-0406-6966, Vardanega, Isaia ORCID: 0000-0002-3642-9381, Imani, Jafargholi ORCID: 0000-0001-8265-1656, Altmueller, Janine, Milner, G. Sara, Balzano, Raffaella, Nagel, A. Kerstin, Pflugfelder, Daniel, Forestan, Cristian ORCID: 0000-0002-1712-825X, Bovina, Riccardo, Koller, Robert, Stoecker, G. Tyll, Mascher, Martin, Simmonds, James, Uauy, Cristobal, Schoof, Heiko ORCID: 0000-0002-1527-3752, Tuberosa, Roberto, Salvi, Silvio and Hochholdinger, Frank (2021). ENHANCED GRAVITROPISM 2 encodes a STERILE ALPHA MOTIF-containing protein that controls root growth angle in barley and wheat. Proc. Natl. Acad. Sci. U. S. A., 118 (35). WASHINGTON: NATL ACAD SCIENCES. ISSN 1091-6490

Kivivirta, Kimmo, Herbert, Denise, Lange, Matthias, Beuerlein, Knut, Altmueller, Janine and Becker, Annette ORCID: 0000-0002-3229-2162 (2019). A protocol for laser microdissection (LMD) followed by transcriptome analysis of plant reproductive tissue in phylogenetically distant. Plant Methods, 15 (1). LONDON: BMC. ISSN 1746-4811

Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariette J. V., Van der Ven, Amelie, Thiele, Holger, Altmueller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K. and Lessel, Davor ORCID: 0000-0003-4496-244X (2021). ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants. Neurogenetics, 22 (4). S. 263 - 270. NEW YORK: SPRINGER. ISSN 1364-6753

Kmietczyk, Vivien, Riechert, Eva ORCID: 0000-0003-4876-7860, Kalinski, Laura, Boileau, Etienne, Malovrh, Ellen ORCID: 0000-0003-0911-6125, Malone, Brandon, Gorska, Agnieszka, Hofmann, Christoph ORCID: 0000-0002-3389-6582, Varma, Eshita, Juergensen, Lonny, Kamuf-Schenk, Verena, Altmueller, Janine, Tappu, Rewati, Busch, Martin, Most, Patrick, Katus, Hugo A., Dieterich, Christoph and Voelkers, Mirko (2019). m(6)A-mRNA methylation regulates cardiac gene expression and cellular growth. Life Sci. Alliance, 2 (2). COLD SPRING HARBOR: LIFE SCIENCE ALLIANCE LLC. ISSN 2575-1077

Koch, Claudia, Kuske, Andra, Joosse, Simon A., Yigit, Goekhan, Sflomos, George ORCID: 0000-0003-2972-0549, Thaler, Sonja, Smit, Daniel J. ORCID: 0000-0002-3190-9511, Werner, Stefan, Borgmann, Kerstin, Gaertner, Sebastian, Mohammadi, Parinaz Mossahebi, Battista, Laura, Cayrefourcq, Laure, Altmueller, Janine, Salinas-Riester, Gabriela, Raithatha, Kaamini, Zibat, Arne, Goy, Yvonne, Ott, Leonie ORCID: 0000-0002-6308-0242, Bartkowiak, Kai, Tan, Tuan Zea, Zhou, Qing, Speicher, Michael R., Mueller, Volkmar, Gorges, Tobias M., Juecker, Manfred, Thiery, Jean-Paul, Brisken, Cathrin, Riethdorf, Sabine, Alix-Panabieres, Catherine and Pantel, Klaus . Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity. EMBO Mol. Med.. HOBOKEN: WILEY. ISSN 1757-4684

Koch, Claudia, Kuske, Andra, Joosse, Simon A., Yigit, Goekhan, Sflomos, George ORCID: 0000-0003-2972-0549, Thaler, Sonja, Smit, Daniel J. ORCID: 0000-0002-3190-9511, Werner, Stefan, Borgmann, Kerstin, Gaertner, Sebastian, Mossahebi Mohammadi, Parinaz, Battista, Laura, Cayrefourcq, Laure, Altmueller, Janine, Salinas-Riester, Gabriela, Raithatha, Kaamini, Zibat, Arne, Goy, Yvonne, Ott, Leonie ORCID: 0000-0002-6308-0242, Bartkowiak, Kai, Tan, Tuan Zea, Zhou, Qing, Speicher, Michael R., Mueller, Volkmar, Gorges, Tobias M., Juecker, Manfred, Thiery, Jean-Paul, Brisken, Cathrin, Riethdorf, Sabine, Alix-Panabieres, Catherine and Pantel, Klaus (2020). Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity. EMBO Mol. Med., 12 (9). HOBOKEN: WILEY. ISSN 1757-4684

Koehler, Katrin ORCID: 0000-0002-9407-1410, Malik, Meera, Mahmood, Saqib, Giesselmann, Sebastian, Beetz, Christian ORCID: 0000-0001-7061-2895, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nuernberg, Gudrun, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Braemswig, Jurgen, Muehlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame ORCID: 0000-0002-4977-9719, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile ORCID: 0000-0002-6199-7647, Kurth, Ingo ORCID: 0000-0002-5642-8378, Huebner, Angela and Huebner, Christian A. (2013). Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction. Am. J. Hum. Genet., 93 (4). S. 727 - 735. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Koenig, Katharina, Peifer, Martin ORCID: 0000-0002-5243-5503, Fassunke, Jana, Ihle, Michaela A., Kuenstlinger, Helen, Heydt, Carina, Stamm, Katrin, Ueckeroth, Frank, Vollbrecht, Claudia ORCID: 0000-0002-0861-001X, Bos, Marc, Gardizi, Masyar, Scheffler, Matthias ORCID: 0000-0002-9031-1368, Nogova, Lucia, Leenders, Frauke, Albus, Kerstin, Meder, Lydia ORCID: 0000-0002-9547-5812, Becker, Kerstin, Florin, Alexandra, Rommerscheidt-Fuss, Ursula, Altmueller, Janine, Kloth, Michael, Nuernberg, Peter, Henkel, Thomas, Bikar, Sven-Ernoe, Sos, Martin L., Geese, William J., Strauss, Lewis, Ko, Yon-Dschun, Gerigk, Ulrich, Odenthal, Margarete, Zander, Thomas, Wolf, Juergen, Merkelbach-Bruse, Sabine, Buettner, Reinhard and Heukamp, Lukas C. (2015). Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients. J. Thorac. Oncol., 10 (7). S. 1049 - 1058. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1556-1380

Koester, Janis ORCID: 0000-0002-5274-0591, Miroshnikova, Yekaterina A., Ghatak, Sushmita, Chacon-Martinez, Carlos Andres, Morgner, Jessica ORCID: 0000-0001-6374-8639, Li, Xinping ORCID: 0000-0002-7427-0017, Atanassov, Ilian ORCID: 0000-0001-8259-2545, Altmueller, Janine, Birk, David E., Koch, Manuel ORCID: 0000-0002-2962-7814, Bloch, Wilhelm, Bartusel, Michaela, Niessen, Carien M. ORCID: 0000-0002-4892-9391, Rada-Iglesias, Alvaro ORCID: 0000-0001-7137-1341 and Wickstroem, Sara A. (2021). Niche stiffening compromises hair follicle stem cell potential during ageing by reducing bivalent promoter accessibility. Nat. Cell Biol., 23 (7). S. 771 - 797. BERLIN: NATURE RESEARCH. ISSN 1476-4679

Kolvenbach, Caroline M., Dworschak, Gabriel C., Frese, Sandra, Japp, Anna S., Schuster, Peggy, Wenzlitschke, Nina, Yilmaz, Oeznur, Lopes, Filipa M., Pryalukhin, Alexey, Schierbaum, Luca, van der Zanden, Loes F. M., Kause, Franziska, Schneider, Ronen, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Pawlaczyk, Krzysztof, Newman, William G., Beaman, Glenda M., Stuart, Helen M., Cervellione, Raimondo M., Feitz, Wouter F. J., van Rooij, Iris A. L. M., Schreuder, Michiel F., Steffens, Martijn, Weber, Stefanie, Merz, Waltraut M., Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Janine, Berg, Christoph, Kristiansen, Glen, Ludwig, Michael, Reutter, Heiko, Woolf, Adrian S., Hildebrandt, Friedhelm, Grote, Phillip, Zaniew, Marcin, Odermatt, Benjamin and Hilger, Alina C. (2019). Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am. J. Hum. Genet., 104 (5). S. 994 - 1007. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Kraemer, Max, Plum, Patrick S. ORCID: 0000-0002-8165-4553, Camacho, Oscar Velazquez, Folz-Donahue, Kat, Thelen, Martin ORCID: 0000-0002-2785-9726, Garcia-Marquez, Isabel, Woelwer, Christina, Buesker, Soeren, Wittig, Jana, Franitza, Marek, Altmueller, Janine, Loeser, Heike, Schloesser, Hans, Buettner, Reinhard, Schroeder, Wolfgang, Bruns, Christiane J., Alakus, Hakan, Quaas, Alexander, Chon, Seung-Hun ORCID: 0000-0002-8923-6428 and Hillmer, Axel M. (2020). Cell type-specific transcriptomics of esophageal adenocarcinoma as a scalable alternative for single cell transcriptomics. Mol. Oncol., 14 (6). S. 1170 - 1185. HOBOKEN: WILEY. ISSN 1878-0261

Kropatsch, Regina, Dekomien, Gabriele, Akkad, Denis A., Gerding, Wanda M., Petrasch-Parwez, Elisabeth, Young, Neil D., Altmueller, Janine, Nuernberg, Peter, Gasser, Robin B. and Epplen, Joerg T. ORCID: 0000-0002-6087-3327 (2013). SOX9 Duplication Linked to Intersex in Deer. PLoS One, 8 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Kuechler, Alma, Altmueller, Janine, Nuernberg, Peter, Kotthoff, Stefan, Kubisch, Christian ORCID: 0000-0003-4220-0978 and Borck, Guntram (2015). Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. Mol. Cell. Probes, 29 (5). S. 330 - 335. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 0890-8508

Laghmani, Kamel ORCID: 0000-0002-2167-5766, Beck, Bodo B., Yang, Sung-Sen, Seaayfan, Elie ORCID: 0000-0003-4839-9834, Wenzel, Andrea, Reusch, Bjorn, Vitzthum, Helga, Priem, Dario ORCID: 0000-0002-2527-1101, Demaretz, Sylvie, Bergmann, Klasien, Duin, Leonie K., Goebel, Heike, Mache, Christoph, Thiele, Holger, Bartram, Malte P., Dombret, Carlos, Altmueller, Janine, Nuernberg, Peter, Benzing, Thomas, Levtchenko, Elena, Seyberth, Hannsjoerg W., Klaus, Guenter, Yigit, Goekhan, Lin, Shih-Hua, Timmer, Albert, de Koning, Tom J., Scherjon, Sicco A., Schlingmann, Karl P., Bertrand, Mathieu J. M., Rinschen, Markus M., de Backer, Olivier, Konrad, Martin and Koemhoff, Martin (2016). Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N. Engl. J. Med., 374 (19). S. 1853 - 1864. WALTHAM: MASSACHUSETTS MEDICAL SOC. ISSN 1533-4406

Lahrouchi, Najim, George, Aman, Ratbi, Ilham, Schneider, Ronen, Elalaoui, Siham C., Moosa, Shahida ORCID: 0000-0002-4463-3067, Bharti, Sanita, Sharma, Ruchi, Abu-Asab, Mones, Onojafe, Felix, Adadi, Najlae, Lodder, Elisabeth M., Laarabi, Fatima-Zahra, Lamsyah, Yassine, Elorch, Hamza, Chebbar, Imane, Postma, Alex, V, Lougaris, Vassilios, Plebani, Alessandro, Altmueller, Janine, Kyrieleis, Henriette, Meiner, Vardiella, McNeill, Helen, Bharti, Kapil, Lyonnet, Stanislas, Wollnik, Bernd, Henrion-Caude, Alexandra, Berraho, Amina, Hildebrandt, Friedhelm, Bezzina, Connie R., Brooks, Brian P. and Sefiani, Abdelaziz (2019). Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nat. Commun., 10. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Lal, Dennis, Neubauer, Bernd A., Toliat, Mohammad R., Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Kamrath, Clemens, Schaenzer, Anne, Sander, Thomas, Hahn, Andreas and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2016). Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS One, 11 (1). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Lal, Dennis, Reinthaler, Eva M., Altmueller, Janine, Toliat, Mohammad R., Thiele, Holger, Nuernberg, Peter, Lerche, Holger, Hahn, Andreas, Moller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A. (2013). RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy. PLoS One, 8 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Muhle, Hiltrud, Riesch, Erik, Kluger, Gerhard, Jabbari, Kamel, Kawalia, Amit, Baeumel, Christine, Holthausen, Hans, Hahn, Andreas, Feucht, Martha, Neophytou, Birgit, Haberlandt, Edda, Becker, Felicitas, Altmueller, Janine, Thiele, Holger, Lemke, Johannes R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Weber, Yvonne, Zimprich, Fritz ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A. (2014). DEPDC5 Mutations in Genetic Focal Epilepsies of Childhood. Ann. Neurol., 75 (5). S. 788 - 793. HOBOKEN: WILEY-BLACKWELL. ISSN 1531-8249

Lanver, Daniel, Mueller, Andre N., Happel, Petra, Schweizer, Gabriel ORCID: 0000-0002-8679-4598, Haas, Fabian B., Franitza, Marek, Pellegrin, Clement ORCID: 0000-0002-6591-655X, Reissmann, Stefanie, Altmueller, Janine, Rensing, Stefan A. and Kahmann, Regine (2018). The Biotrophic Development of Ustilago maydis Studied by RNA-Seq Analysis. Plant Cell, 30 (2). S. 300 - 324. ROCKVILLE: AMER SOC PLANT BIOLOGISTS. ISSN 1532-298X

Leblay, Noemie, Alcala, Nicolas, Marin, David Hervas, Delhomme, Tiffany M., Giffon, Theo, Ghantous, Akram, Chabrier, Amelie, Cuenin, Cyrille, Altmueller, Janine, Durand, Geoffroy, Voegele, Catherine, Lorimier, Philippe, Toffart, Anne-Claire, Derks, Jules, Brustugun, Odd Terje, Clement, Joachim H., Saenger, Joerg, Field, John K., Soltermann, Alex, Wright, Gavin M., Roz, Luca ORCID: 0000-0001-5817-7149, Muscarella, Lucia Anna, Graziano, Paolo, Herceg, Zdenko, Speel, Ernst-Jan, Nuernberg, Peter, McKay, James, Girard, Nicolas, Lantuejoul, Sylvie, Sandoval, Juan, Brambilla, Elisabeth, Foll, Matthieu and Fernandez-Cuesta, Lynnette (2018). Multi-omics comparative analyses of pulmonary typical carcinoids, atypical carcinoids, and large-cell neuroendocrine carcinoma. Cancer Res., 78 (13). PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7445

Leipold, Enrico, Hanson-Kahn, Andrea, Frick, Miya, Gong, Ping, Bernstein, Jonathan A., Voigt, Martin, Katona, Istvan ORCID: 0000-0002-0955-8911, Goral, R. Oliver, Altmueller, Janine, Nuernberg, Peter, Weis, Joachim ORCID: 0000-0003-3280-6773, Huebner, Christian A., Heinemann, Stefan H. ORCID: 0000-0002-4144-0251 and Kurth, Ingo ORCID: 0000-0002-5642-8378 (2015). Cold-aggravated pain in humans caused by a hyperactive Na(V)1.9 channel mutant. Nat. Commun., 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Lessel, Davor ORCID: 0000-0003-4496-244X, Rading, Katrin, Campbell, Susan E., Thiele, Holger, Altmueller, Janine, Gordon, Leslie B. and Kubisch, Christian (2022). A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies. Am. J. Med. Genet. A, 188 (1). S. 216 - 224. HOBOKEN: WILEY. ISSN 1552-4833

Lessel, Davor ORCID: 0000-0003-4496-244X, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J., Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie ORCID: 0000-0003-2714-965X, Sim, Joe C. H., Smith, Katherine R., Oehler, Judith, Cabrera, Elisa, Freire, Raimundo ORCID: 0000-0003-4473-8894, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J., Delatycki, Martin B., Barbi, Gotthold, von Ameln, Simon ORCID: 0000-0002-2242-3165, Hoegel, Josef, Degoricija, Marina ORCID: 0000-0001-7023-9381, Fertig, Regina, Burkhalter, Martin D., Hofmann, Kay ORCID: 0000-0002-2289-9083, Thiele, Holger, Altmueller, Janine, Nuernberg, Gudrun, Nuernberg, Peter, Bahlo, Melanie ORCID: 0000-0001-5132-0774, Martin, George M., Aalfs, Cora M., Oshima, Junko, Terzic, Janos, Amor, David J., Dikic, Ivan ORCID: 0000-0001-8156-9511, Ramadan, Kristijan and Kubisch, Christian ORCID: 0000-0003-4220-0978 (2014). Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nature Genet., 46 (11). S. 1239 - 1245. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Lindner, Angie, Marbach, Felix, Tschernitz, Sebastian, Ortner, Christine, Berneburg, Mark, Felthaus, Oliver, Prantl, Lukas, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Rappl, Gunter, Altmueller, Janine, Thieles, Holger, Schreml, Stephan ORCID: 0000-0002-2820-1942 and Schreml, Julia (2019). Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Lopez, Cristina ORCID: 0000-0001-6644-1659, Wagener, Rabea, Kleinheinz, Kortine, Bausinger, Julia, Aukema, Sietse M., Nagel, Inga, Toprak, Umut H., Seufert, Julian, Altmueller, Janine, Thiele, Holger, Schneider, Christof, Kolarova, Julia, Park, Jeongbin, Huebschmann, Daniel, Penas, Eva M. Murga, Drexler, Hans G., Attarbaschi, Andishe, Hovland, Randi, Kjeldsen, Eigil, Kneba, Michael, Kontny, Udo, de Leval, Laurence ORCID: 0000-0003-3994-516X, Nuernberg, Peter, Oschlies, Ilske, Oscier, David, Schlegelberger, Brigitte, Stilgenbauer, Stephan, Woessmann, Wilhelm, Schlesner, Matthias, Burkhardt, Birgit, Klapper, Wolfram, Jaffe, Elaine S., Kueppers, Ralf and Siebert, Reiner (2018). IG-MYC-positive leukemia and lymphoma with precursor B-cell phenotype are genetically and epigenetically distinct from Burkitt lymphomas. Br. J. Haematol., 182. S. 19 - 21. HOBOKEN: WILEY. ISSN 1365-2141

Lopez-Rivera, Javier A., Leu, Costin, Macnee, Marie, Khoury, Jean, Hoffmann, Lucas ORCID: 0000-0002-3801-1595, Coras, Roland, Kobow, Katja ORCID: 0000-0002-0074-2480, Bhattarai, Nisha, Perez-Palma, Eduardo, Hamer, Hajo, Brandner, Sebastian, Roessler, Karl, Bien, Christian G. ORCID: 0000-0003-2225-8654, Kalbhenn, Thilo, Pieper, Tom, Hartlieb, Till, Butler, Elizabeth, Genovese, Giulio, Becker, Kerstin, Altmueller, Janine, Niestroj, Lisa-Marie, Ferguson, Lisa, Busch, Robyn M., Nuernberg, Peter, Najm, Imad, Bluemcke, Ingmar and Lal, Dennis . The genomic landscape across 474 surgically accessible epileptogenic human brain lesions. Brain. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma ORCID: 0000-0002-7168-8266, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Hoehne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam ORCID: 0000-0001-5962-2101, Yousaf, Hammad, Ali, Zafar ORCID: 0000-0002-2389-3337, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Anjum, Iram, Altmueller, Janine, Thiele, Holger, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid (2021). Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ. Genes, 12 (5). BASEL: MDPI. ISSN 2073-4425

Manteniotis, Stavros, Lehmann, Ramona, Flegel, Caroline, Vogel, Felix, Hofreuter, Adrian, Schreiner, Benjamin S. P., Altmueller, Janine, Becker, Christian, Schoebel, Nicole, Hatt, Hanns and Gisselmann, Guenter (2013). Comprehensive RNA-Seq Expression Analysis of Sensory Ganglia with a Focus on Ion Channels and GPCRs in Trigeminal Ganglia. PLoS One, 8 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Marbach, Felix, Rustad, Cecilie F., Riess, Angelika, Dukic, Dejan, Hsieh, Tzung-Chien ORCID: 0000-0003-3828-4419, Jobani, Itamar, Prescott, Trine, Bevot, Andrea, Erger, Florian ORCID: 0000-0002-2768-1702, Houge, Gunnar, Redfors, Maria, Altmueller, Janine, Stokowy, Tomasz ORCID: 0000-0003-0017-8338, Gilissen, Christian ORCID: 0000-0003-1693-9699, Kubisch, Christian, Scarano, Emanuela, Mazzanti, Laura, Fiskerstrand, Torunn, Krawitz, Peter M., Lessel, Davor ORCID: 0000-0003-4496-244X and Netzer, Christian (2019). The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. Am. J. Hum. Genet., 104 (4). S. 749 - 758. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Marko, Hannah L., Hornig, Nadine C., Betz, Regina C., Holterhus, Paul-Martin, Altmueller, Janine, Thiele, Holger, Fabiano, Marietta ORCID: 0000-0002-4360-6809, Schweikert, Hans-Udo, Braun, Doreen and Schweizer, Ulrich ORCID: 0000-0003-1380-4780 (2022). Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development. Hum. Mutat., 43 (3). S. 420 - 434. HOBOKEN: WILEY. ISSN 1098-1004

Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Bicknell, Louise S., Leitch, Andrea, Nuernberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E., Hunt, David, Khan, Fawad, Ali, Zafar ORCID: 0000-0002-2389-3337, Tinschert, Sigrid, Ding, James ORCID: 0000-0001-7273-9646, Keith, Charlotte, Harley, Margaret E., Heyn, Patricia, Mueller, Rolf, Hoffmann, Ingrid, Cormier-Daire, Valerie, Dollfus, Helene, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana ORCID: 0000-0002-8467-4728, Mendoza-Londono, Roberto, Moore, Anthony T., Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmueller, Janine, Hoehne, Wolfgang, Hurles, Matthew E., Noegel, Angelika Anna, Baig, Shahid Mahmood, Nuernberg, Peter and Jackson, Andrew P. (2014). Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nature Genet., 46 (12). S. 1283 - 1293. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Sarlos, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmueller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A. Y., Barraza-Garcia, Jimena, Begtrup, Amber, Bogliolo, Massimo ORCID: 0000-0001-8240-7784, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Grainne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito ORCID: 0000-0003-4978-1680, Kohda, Masakazu, Stabej, Polona Le Quesne, Malallah, Asam Jassim, Nuernberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria Jose, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel ORCID: 0000-0001-7758-0312, Wilson, Carolyn, Yigit, Goekhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesais, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D. and Jackson, Andrew P. (2018). Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am. J. Hum. Genet., 103 (2). S. 221 - 232. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Massberg, Desiree, Jovancevic, Nikolina, Offermann, Anne, Simon, Annika, Baniahmad, Aria, Perner, Sven, Pungsrinont, Thanakorn, Luko, Katarina, Philippou, Stathis, Ubrig, Burkhard, Heiland, Markus, Weber, Lea, Altmueller, Janine, Becker, Christian, Gisselmann, Guenter, Gelis, Lian and Hatt, Hanns (2016). The activation of OR51E1 causes growth suppression of human prostate cancer cells. Oncotarget, 7 (30). S. 48231 - 48250. ORCHARD PARK: IMPACT JOURNALS LLC. ISSN 1949-2553

Matei, Alexandra, Ernst, Corinna, Guenl, Markus, Thiele, Bjoern, Altmueller, Janine, Walbot, Virginia, Usadel, Bjoern and Doehlemann, Gunther ORCID: 0000-0002-7353-8456 (2018). How to make a tumour: cell type specific dissection of Ustilago maydis-induced tumour development in maize leaves. New Phytol., 217 (4). S. 1681 - 1696. HOBOKEN: WILEY. ISSN 1469-8137

May, Patrick ORCID: 0000-0001-8698-3770, Girard, Simon ORCID: 0000-0002-4089-2280, Harrer, Merle, Bobbili, Dheeraj R., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E., Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-Lopez, Rosa, Baulac, Stephanie ORCID: 0000-0001-6430-4693, Marini, Carla, Thiele, Holger, Altmueller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestele, Sandrine ORCID: 0000-0002-5982-1562, Terragni, Benedetta, Coombs, Ian D., Reid, Christopher A., Striano, Pasquale ORCID: 0000-0002-6065-1476, Caglayan, Hande, Siren, Auli, Everett, Kate ORCID: 0000-0001-6700-1698, Moller, Rikke S., Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Weber, Yvonne G., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Sisodiya, Sanjay M., Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S., Trenite, Dorothee Kasteleijn-Nolst, Baykan, Betul, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Bebek, Nerses, Klein, Karl M., Rosenow, Felix, Nguyen, Dang K., Dubeau, Francois, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clement, Jean-Francois, Cieuta-Walti, Cecile, Sills, Graeme J., Auce, Pauls, Francis, Ben, Johnson, Michael R., Marson, Anthony G., Berghuis, Bianca, Sander, Josemir W., Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Krenn, Martin ORCID: 0000-0003-3026-3082, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi ORCID: 0000-0003-2902-5650, Ikram, M. Arfan, Uitterlinden, Andre G., Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven ORCID: 0000-0002-4960-6375, Mantegazza, Massimo ORCID: 0000-0002-1070-7929, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M., Koeleman, Bobby P. C., Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Nuernberg, Peter, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Zara, Federico, Cossette, Patrick, Krause, Roland ORCID: 0000-0001-9938-7126 and Lerche, Holger (2018). Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol., 17 (8). S. 699 - 709. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1474-4465

Meeser, Alina, Bartenhagen, Christoph, Werr, Lisa, Hellmann, Anna-Maria, Kahlert, Yvonne, Hemstedt, Nadine, Nuernberg, Peter, Altmueller, Janine, Ackermann, Sandra, Hero, Barbara, Simon, Thorsten ORCID: 0000-0002-3425-8451, Peifer, Martin ORCID: 0000-0002-5243-5503, Fischer, Matthias and Rosswog, Carolina (2022). Reliable assessment of telomere maintenance mechanisms in neuroblastoma. Cell Biosci., 12 (1). LONDON: BMC. ISSN 2045-3701

Metodiev, Metodi Dimitrov, Spahr, Henrik, Polosa, Paola Loguercio, Meharg, Caroline ORCID: 0000-0003-0573-9528, Becker, Christian, Altmueller, Janine, Habermann, Bianca ORCID: 0000-0002-2457-7504, Larsson, Nils-Goeran and Ruzzenente, Benedetta ORCID: 0000-0001-7366-114X (2014). NSUN4 Is a Dual Function Mitochondrial Protein Required for Both Methylation of 12S rRNA and Coordination of Mitoribosomal Assembly. PLoS Genet., 10 (2). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Soehn, Anne S., Reichbauer, Jennifer, Tao, Feifei, Rattay, Tim W. ORCID: 0000-0002-5456-7761, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro, Pyle, Angela, Thiele, Holger, Altmueller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A., Stirnberg, Ruediger, Sturm, Marc ORCID: 0000-0002-6552-8362, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan ORCID: 0000-0002-2786-8200, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Bruestle, Oliver, Klopstock, Thomas, Mathews, Katherine D., Shy, Michael E., de Jonghe, Peter, Chinnery, Patrick F., Horvath, Rita ORCID: 0000-0002-9841-170X, Kohlhase, Juergen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schoels, Ludger, Nuernberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo ORCID: 0000-0003-4991-763X and Schuele, Rebecca (2017). Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain, 140. S. 1561 - 1579. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Montesinos-Rongen, Manuel, Brunn, Anna, Tuchscherer, Armin, Borchmann, Peter, Schorb, Elisabeth, Kasenda, Benjamin, Altmueller, Janine, Illerhaus, Gerald, Ruge, Maximilian, I, Maarouf, Mohammad, Buettner, Reinhard, Hansmann, Martin-Leo, Hallek, Michael, Prinz, Marco, Siebert, Reiner and Deckert, Martina (2020). Analysis of Driver Mutational Hot Spots in Blood-Derived Cell-Free DNA of Patients with Primary Central Nervous System Lymphoma Obtained before Intracerebral Biopsy. J. Mol. Diagn., 22 (10). S. 1300 - 1308. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1943-7811

Moosa, Shahida ORCID: 0000-0002-4463-3067, Altmueller, Janine, Lyngbye, Troels, Christensen, Rikke, Li, Yun, Nuernberg, Peter, Yigit, Goekhan, Vogel, Ida ORCID: 0000-0002-1125-0393 and Wollnik, Bernd (2017). Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. Mol. Genet. Genom. Med., 5 (5). S. 580 - 585. HOBOKEN: WILEY. ISSN 2324-9269

Moosa, Shahida ORCID: 0000-0002-4463-3067, Boehrer-Rabel, Helena, Altmueller, Janine, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Nuernberg, Peter, Li, Yun, Yigit, Goekhan and Wollnik, Bernd (2017). Smith-Kingsmore Syndrome: A Third Family with the MTOR Mutation C.5395G > A p.(Glu1799Lys) and Evidence for Paternal Gonadal Mosaicism. Am. J. Med. Genet. A, 173 (1). S. 264 - 268. HOBOKEN: WILEY. ISSN 1552-4833

Moosa, Shahida ORCID: 0000-0002-4463-3067, Fano, Virginia, Obregon, Maria Gabriela, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Nishimura, Gen and Wollnik, Bernd (2016). A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival. Am. J. Med. Genet. A, 170 (9). S. 2436 - 2440. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

Moosa, Shahida ORCID: 0000-0002-4463-3067, Haagerup, Annette, Gregersen, Pernille Axel, Petersen, Karin Kastberg, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Cho, Tae-Joon ORCID: 0000-0001-8514-377X, Kim, Ok-Hwa, Nishimura, Gen, Wollnik, Bernd and Vogel, Ida ORCID: 0000-0002-1125-0393 (2017). Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am. J. Med. Genet. A, 173 (4). S. 1102 - 1109. HOBOKEN: WILEY. ISSN 1552-4833

Moosa, Shahida ORCID: 0000-0002-4463-3067, Loeys, Bart, Altmueller, Janine, Mortier, Geert, Nuernberg, Peter, Li, Yun, Wollnik, Bernd and Vogel, Ida ORCID: 0000-0002-1125-0393 (2017). Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. Clin. Genet., 92 (3). S. 342 - 344. HOBOKEN: WILEY. ISSN 1399-0004

Moosa, Shahida ORCID: 0000-0002-4463-3067, Obregon, Maria Gabriela, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Fano, Virginia and Wollnik, Bernd (2016). Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum. Am. J. Med. Genet. A, 170 (5). S. 1295 - 1302. HOBOKEN: WILEY. ISSN 1552-4833

Moosa, Shahida ORCID: 0000-0002-4463-3067, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sergio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, de Menezes, Hamilton Cabral, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Jr., Bezerra Carniero, Tulio Canella, Giunta, Cecilia ORCID: 0000-0002-9313-8257, Rohrbach, Marianne ORCID: 0000-0002-4013-6012, Janner, Marco, Semler, Oliver, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Li, Yun, Yigit, Goekhan, Reintjes, Nadine, Altmueller, Janine, Nuernberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd and Netzer, Christian (2019). Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am. J. Hum. Genet., 105 (4). S. 836 - 844. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Mross, Carmen, Marko, Marija, Munck, Martina, Gloeckner, Gernot, Motameny, Susanne, Altmueller, Janine, Noegel, Angelika A., Eichinger, Ludwig ORCID: 0000-0003-1594-6117, Peche, Vivek S. and Neumann, Sascha (2018). Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice. Nucleus, 9 (1). S. 503 - 516. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1949-1042

Murakami, Yoshiko, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba ORCID: 0000-0001-5371-6756, Rousseau, Justine ORCID: 0000-0002-3554-2673, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian ORCID: 0000-0002-2768-1702, Altmueller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna ORCID: 0000-0002-7560-797X, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth ORCID: 0000-0001-6749-3661, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, Maria Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh and Campeau, Philippe M. (2019). Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. Am. J. Hum. Genet., 105 (2). S. 384 - 395. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Neidhardt, Guido, Becker, Alexandra, Hauke, Jan, Horvath, Judit, Markov, Nadja Bogdanova, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Hellebrand, Heide, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Meindl, Alfons, Rhiem, Kerstin, Bluemcke, Britta, Wappenschmidt, Barbara, Schmutzler, Rita K. and Hahnen, Eric (2017). The RAD51C exonic splice-site mutations c.404G > C and c.404G > T are associated with familial breast and ovarian cancer. Eur. J. Cancer Prev., 26 (2). S. 165 - 170. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1473-5709

Neidhardt, Guido, Hauke, Jan, Ramser, Juliane, Gross, Eva, Gehrig, Andrea, Mueller, Clemens R., Kahlert, Anne-Karin, Hackmann, Karl, Honisch, Ellen, Niederacher, Dieter, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Franke, Andre ORCID: 0000-0003-1530-5811, Lieb, Wolfgang, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Klaschik, Kristina, Ernst, Corinna, Ditsch, Nina, Jessen, Frank, Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2017). Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA Oncol., 3 (9). S. 1245 - 1249. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

Neuhofer, Christiane M. ORCID: 0000-0002-5037-4444, Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmueller, Janine, Nuernberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter and Pauli, Silke (2020). A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia. Mol. Syndromol., 11 (1). S. 30 - 38. BASEL: KARGER. ISSN 1661-8777

Niestroj, Lisa-Marie, May, Patrick ORCID: 0000-0001-8698-3770, Artomov, Mykyta ORCID: 0000-0001-5282-8764, Kobow, Katja ORCID: 0000-0002-0074-2480, Coras, Roland, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Leu, Costin, Palotie, Aarno, Daly, Mark J., Klein, Karl Martin ORCID: 0000-0002-6654-1665, Beschorner, Rudi, Weber, Yvonne G., Bluemcke, Ingmar and Lal, Dennis (2019). Assessment of genetic variant burden in epilepsy-associated brain lesions. Eur. J. Hum. Genet., 27 (11). S. 1738 - 1745. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Odenthal, Johanna, Dittrich, Sebastian, Ludwig, Vivian, Merz, Tim, Reitmeier, Katrin, Reusch, Bjoern, Hoehne, Martin, Cosgun, Zuelfue C., Hohenadel, Maximilian, Putnik, Jovana, Goebel, Heike, Rinschen, Markus M., Altmueller, Janine, Koehler, Sybille, Schermer, Bernhard, Benzing, Thomas ORCID: 0000-0003-0512-1066, Beck, Bodo B., Brinkkoetter, Paul T., Habbig, Sandra and Bartram, Malte P. (2022). Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes. Kidney Int. Rep., 8 (2). S. 317 - 330. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Olbrich, Heike, Cremes, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmueller, Janine, Rommelmann, Frank and Omran, Heymut (2015). Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am. J. Hum. Genet., 97 (4). S. 546 - 555. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Ortiz-Cuaran, Sandra, Scheffler, Matthias ORCID: 0000-0002-9031-1368, Plenker, Dennis, Dahmen, Ilona, Scheel, Andreas H., Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Meder, Lydia ORCID: 0000-0002-9547-5812, Lovly, Christine M., Persigehl, Thorsten, Merkelbach-Bruse, Sabine, Bos, Marc, Michels, Sebastian, Fischer, Rieke, Albus, Kerstin, Koenig, Katharina, Schildhaus, Hans-Ulrich, Fassunke, Jana, Ihle, Michaela A., PasternackO, Helen, Heydt, Carina, Becker, Christian, Altmueller, Janine, Ji, Hongbin, Mueller, Christian, Florin, Alexandra, Heuckmann, Johannes M., Nuernberg, Peter, Ansen, Sascha, Heukamp, Lukas C., Berg, Johannes, Pao, William, Peifer, Martin ORCID: 0000-0002-5243-5503, Buettner, Reinhard, Wolfe, Juergen, Thomas, Roman K. and Sos, Martin L. (2016). Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors. Clin. Cancer Res., 22 (19). S. 4837 - 4848. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1557-3265

Owczarek-Lipska, Marta, Reiff, Charlotte, Spital, Georg, Roeger, Carsten, Hinz, Hebke, Jueschke, Christoph, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Da Costa, Romain and Neidhardt, John (2016). Two distinct phenotypes in the same family are caused by the Schiff base counterion mutation p.E113K in rhodopsin. Invest. Ophthalmol. Vis. Sci., 57 (12). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Pacholewska, Alicja ORCID: 0000-0002-4888-4883, Grimm, Christina ORCID: 0000-0002-4676-8870, Herling, Carmen D., Lienhard, Matthias ORCID: 0000-0002-2549-3142, Koenigs, Anja, Timmermann, Bernd, Altmueller, Janine, Muecke, Oliver, Reinhardt, Hans Christian, Plass, Christoph, Herwig, Ralf, Hallek, Michael and Schweiger, Michal R. (2021). Altered DNA Methylation Profiles in SF3B1 Mutated CLL Patients. Int. J. Mol. Sci., 22 (17). BASEL: MDPI. ISSN 1422-0067

Paeger, Lars ORCID: 0000-0001-8716-3483, Karakasilioti, Ismene, Altmueller, Janine, Frommole, Peter, Bruening, Jens and Kloppenburg, Peter (2017). Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin. eLife, 6. CAMBRIDGE: ELIFE SCIENCES PUBLICATIONS LTD. ISSN 2050-084X

Pankin, Artem ORCID: 0000-0002-1149-9746, Altmueller, Janine, Becker, Christian and von Korff, Maria (2018). Targeted resequencing reveals genomic signatures of barley domestication. New Phytol., 218 (3). S. 1247 - 1260. HOBOKEN: WILEY. ISSN 1469-8137

Paolacci, Stefano ORCID: 0000-0002-5551-7520, Li, Yun, Agolini, Emanuele ORCID: 0000-0001-6543-6225, Bellacchio, Emanuele ORCID: 0000-0002-2757-849X, Arboleda-Bustos, Carlos E., Carrero, Dido, Bertola, Debora, Al-Gazali, Lihadh, Alders, Mariel, Altmueller, Janine, Arboleda, Gonzalo, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Ciolfi, Andrea, Gillessen-Kaesbach, Gabriele, Krieg, Thomas, Mohammed, Shehla, Mueller, Christian, Noyelli, Antonio, Ortega, Jenny, Sandoval, Adrian, Velasco, Gloria, Yigit, Goekhan, Arboleda, Humberto, Lopez-Otin, Carlos ORCID: 0000-0001-6964-1904, Wollnik, Bernd, Tartaglia, Marco ORCID: 0000-0001-7736-9672 and Hennekam, Raoul C. (2018). Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. J. Med. Genet., 55 (12). S. 837 - 846. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Patil, Paurnima, Cieslak, Agata ORCID: 0000-0003-1015-9448, Bernhart, Stephan H., Toprak, Umut H., Wagener, Rabea, Lopez, Cristina ORCID: 0000-0001-6644-1659, Wiehle, Laura ORCID: 0000-0001-6081-3925, Bens, Susanne, Altmueller, Janine, Franitza, Marek, Scholz, Ingrid, Jayne, Sandrine, Ahearne, Matthew J., Scheffold, Annika, Jebaraj, Billy M. C., Schneider, Christof, Costa, Dolors, Braun, Till, Schrader, Alexandra, Campo, Elias, Dyer, Martin J. S., Nuernberg, Peter, Duerig, Jan, Johansson, Patricia, Boettcher, Sebastian, Schlesner, Matthias, Herling, Marco, Stilgenbauer, Stephan, Macintyre, Elizabeth and Siebert, Reiner (2020). Reconstruction of rearranged T-cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T-cell prolymphocytic leukemia. Gene Chromosomes Cancer, 59 (4). S. 261 - 268. HOBOKEN: WILEY. ISSN 1098-2264

Pauli, Silke, Altmueller, Janine, Schroeder, Simone, Ohlenbusch, Andreas, Dreha-Kulaczewski, Steffi, Bergmann, Carsten, Nuernberg, Peter, Thiele, Holger, Li, Yun, Wollnik, Bernd and Brockmann, Knut (2019). Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J. Med. Genet., 56 (4). S. 261 - 265. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Peeva, Viktoriya, Blei, Daniel, Trombly, Genevieve, Corsi, Sarah ORCID: 0000-0002-8680-7870, Szukszto, Maciej J., Rebelo-Guiomar, Pedro, Gammage, Payam A., Kudin, Alexei P., Becker, Christian, Altmueller, Janine, Minczuk, Michal, Zsurka, Gabor ORCID: 0000-0002-6379-849X and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2018). Linear mitochondrial DNA is rapidly degraded by components of the replication machinery. Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Peifer, Martin ORCID: 0000-0002-5243-5503, Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Sos, Martin L., George, Julie, Seidel, Danila ORCID: 0000-0003-4388-3117, Kasper, Lawryn H., Plenker, Dennis, Leenders, Frauke, Sun, Ruping, Zander, Thomas, Menon, Roopika, Koker, Mirjam, Dahmen, Ilona, Mueller, Christian, Di Cerbo, Vincenzo ORCID: 0000-0002-2920-1274, Schildhaus, Hans-Ulrich, Altmueller, Janine, Baessmann, Ingelore, Becker, Christian, de Wilde, Bram, Vandesompele, Jo ORCID: 0000-0001-6274-0184, Boehm, Diana, Ansen, Sascha, Gabler, Franziska, Wilkening, Ines, Heynck, Stefanie, Heuckmann, Johannes M., Lu, Xin, Carter, Scott L., Cibulskis, Kristian, Banerji, Shantanu, Getz, Gad, Park, Kwon-Sik, Rauh, Daniel ORCID: 0000-0002-1970-7642, Gruetter, Christian, Fischer, Matthias, Pasqualucci, Laura, Wright, Gavin ORCID: 0000-0002-7000-9305, Wainer, Zoe, Russell, Prudence, Petersen, Iver, Chen, Yuan, Stoelben, Erich, Ludwig, Corinna, Schnabel, Philipp, Hoffmann, Hans, Muley, Thomas, Brockmann, Michael, Engel-Riedel, Walburga, Muscarella, Lucia A., Fazio, Vito M., Groen, Harry, Timens, Wim ORCID: 0000-0002-4146-6363, Sietsma, Hannie, Thunnissen, Erik ORCID: 0000-0001-5355-8508, Smit, Egbert, Heideman, Danielle A. M., Snijders, Peter J. F., Cappuzzo, Federico, Ligorio, Claudia, Damiani, Stefania, Field, John, Solberg, Steinar, Brustugun, Odd Terje, Lund-Iversen, Marius, Saenger, Joerg, Clement, Joachim H. ORCID: 0000-0002-6601-2456, Soltermann, Alex, Moch, Holger, Weder, Walter, Solomon, Benjamin, Soria, Jean-Charles, Validire, Pierre, Besse, Benjamin ORCID: 0000-0001-5090-8189, Brambilla, Elisabeth, Brambilla, Christian, Lantuejoul, Sylvie, Lorimier, Philippe, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Hallek, Michael, Pao, William, Meyerson, Matthew ORCID: 0000-0002-9133-8108, Sage, Julien, Shendure, Jay ORCID: 0000-0002-1516-1865, Schneider, Robert, Buettner, Reinhard, Wolf, Juergen, Nuernberg, Peter, Perner, Sven, Heukamp, Lukas C., Brindle, Paul K., Haas, Stefan ORCID: 0000-0003-3418-3688 and Thomas, Roman K. (2012). Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nature Genet., 44 (10). S. 1104 - 1113. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Peifer, Martin ORCID: 0000-0002-5243-5503, Hertwig, Falk ORCID: 0000-0003-4784-6516, Roels, Frederik, Dreidax, Daniel, Gartlgruber, Moritz, Menon, Roopika, Kraemer, Andrea, Roncaioli, Justin L., Sand, Frederik, Heuckmann, Johannes M., Ikram, Fakhera ORCID: 0000-0001-7796-4746, Schmidt, Rene, Ackermann, Sandra, Engesser, Anne, Kahlert, Yvonne, Vogel, Wenzel, Altmueller, Janine, Nuernberg, Peter, Thierry-Mieg, Jean, Thierry-Mieg, Danielle ORCID: 0000-0001-9568-4211, Mariappan, Aruljothi, Heynck, Stefanie, Mariotti, Erika, Henrich, Kai-Oliver, Gloeckner, Christian, Bosco, Graziella, Leuschner, Ivo, Schweiger, Michal R., Savelyeva, Larissa, Watkins, Simon C., Shao, Chunxuan, Bell, Emma, Hoefer, Thomas, Achter, Viktor, Lang, Ulrich ORCID: 0000-0001-7166-0805, Theissen, Jessica, Volland, Ruth, Saadati, Maral, Eggert, Angelika ORCID: 0000-0003-3476-8184, de Wilde, Bram, Berthold, Frank, Peng, Zhiyu, Zhao, Chen, Shi, Leming, Ortmann, Monika, Buettner, Reinhard, Perner, Sven, Hero, Barbara, Schramm, Alexander, Schulte, Johannes H., Herrmann, Carl ORCID: 0000-0003-4989-4722, O'Sullivan, Roderick J., Westermann, Frank, Thomas, Roman K. and Fischer, Matthias (2015). Telomerase activation by genomic rearrangements in high-risk neuroblastoma. Nature, 526 (7575). S. 700 - 705. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-4687

Pergande, Matthias, Motameny, Susanne, Oezdemir, Oezkan, Kreutzer, Mona, Wang, Haicui, Daimagueler, Huelya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald ORCID: 0000-0003-4587-1734, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Ozgur, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schaenzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Goknur, Topaloglu, Haluk, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Heller, Raoul and Cirak, Sebahattin (2020). The genomic and clinical landscape of fetal akinesia. Genet. Med., 22 (3). S. 511 - 524. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Piechotta, Michael, Naarmann-de Vries, Isabel S., Wang, Qi, Altmueller, Janine and Dieterich, Christoph ORCID: 0000-0001-9468-6311 (2022). RNA modification mapping with JACUSA2. Genome Biol., 23 (1). LONDON: BMC. ISSN 1474-760X

Pohl-Rescigno, Esther, Hauke, Jan, Loibl, Sibylle, Moebus, Volker, Denkert, Carsten, Fasching, Peter A., Kayali, Mohamad, Ernst, Corinna ORCID: 0000-0001-7756-8815, Weber-Lassalle, Nana, Hanusch, Claus, Tesch, Hans, Mueller, Volkmar, Altmueller, Janine, Thiele, Holger ORCID: 0000-0002-0169-998X, Untch, Michael, Luebbe, Kristina, Nuernberg, Peter, Rhiem, Kerstin, Furlanetto, Jenny, Lederer, Bianca, Jackisch, Christian, Nekljudova, Valentina, Schmutzler, Rita K., Schneeweiss, Andreas and Hahnen, Eric (2020). Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer A Secondary Analysis of the GeparOcto Randomized Clinical Trial. JAMA Oncol., 6 (5). S. 744 - 749. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

Preising, Markus N., Goerg, Boris, Friedburg, Christoph, Qvartskhava, Natalia, Budde, Birgit S., Bonus, Michele, Toliat, Mohammad R., Pfleger, Christopher, Altmueller, Janine, Herebian, Diran ORCID: 0000-0002-8528-0122, Beyer, Mila, Zoellner, Helge J., Wittsack, Hans-Joerg, Schaper, Joerg, Klee, Dirk, Zechner, Ulrich, Nuernberg, Peter, Schipper, Joerg, Schnitzler, Alfons, Gohlke, Holger, Lorenz, Birgit ORCID: 0000-0002-9737-8127, Haeussinger, Dieter and Bolz, Hanno J. (2019). Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. Faseb J., 33 (10). S. 11507 - 11528. BETHESDA: FEDERATION AMER SOC EXP BIOL. ISSN 1530-6860

Ralser, Damian J., Basmanav, F. Buket Ue., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michelle, Pulimood, Susanne A., Altmueller, Janine, Nuernberg, Peter, Lacombe, Didier ORCID: 0000-0002-8956-2207, Hillen, Uwe, Wenzel, Joerg, Frank, Jorge, Odermatt, Benjamin and Betz, Regina C. (2017). Mutations in gamma-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J. Clin. Invest., 127 (4). S. 1485 - 1491. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Rehimi, Rizwan, Bartusel, Michaela, Solinas, Francesca, Altmueller, Janine and Rada-Iglesias, Alvaro (2017). Chromatin Immunoprecipitation (ChIP) Protocol for Low-abundance Embryonic Samples. J. Vis. Exp. (126). CAMBRIDGE: JOURNAL OF VISUALIZED EXPERIMENTS. ISSN 1940-087X

Reiff, Charlotte, Owczarek-Lipska, Marta, Spital, Georg, Roeger, Carsten, Hinz, Hebke, Jueschke, Christoph, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Da Costa, Romain ORCID: 0000-0001-6729-3029 and Neidhardt, John (2016). The mutation p. E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family. Sci Rep, 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Reinthaler, Eva M., Lal, Dennis, Jurkowski, Wiktor, Feucht, Martha, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Geldner, Julia, Haberlandt, Edda, Neophytou, Birgit, Hahn, Andreas, Altmueller, Janine, Thiele, Holger, Toliat, Mohammad R., Lerche, Holger, Nuernberg, Peter, Sander, Thomas, Neubauer, Bernd A. and Zimprich, Fritz ORCID: 0000-0002-6998-5480 (2014). Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia, 55 (8). S. E89 - 5. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

Renner, Sina, Schueler, Helke, Alawi, Malik, Kolbe, Verena, Rybczynski, Meike, Woitschach, Rixa, Sheikhzadeh, Sara, Stark, Veronika C., Olfe, Jakob, Roser, Elke, Seggewies, Friederike Sophia, Mahlmann, Adrian, Hempel, Maja, Hartmann, Melanie J., Hillebrand, Mathias, Wieczorek, Dagmar, Volk, Alexander Erich, Kloth, Katja, Koch-Hogrebe, Margarete, Abou Jamra, Rami, Mitter, Diana, Altmueller, Janine, Wey-Fabrizius, Alexandra, Petersen, Christine, Rau, Isabella, Borck, Guntram, Kubisch, Christian, Mir, Thomas S., von Kodolitsch, Yskert, Kutsche, Kerstin and Rosenberger, Georg (2019). Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet. Med., 21 (8). S. 1832 - 1842. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Reusch, Bjorn, Bartram, Malte P., Dafinger, Claudia, Palacio-Escat, Nicolas ORCID: 0000-0002-7022-1437, Wenzel, Andrea, Fenton, Robert A., Saez-Rodriguez, Julio ORCID: 0000-0002-8552-8976, Schermer, Bernhard, Benzing, Thomas, Altmueller, Janine, Beck, Bodo B. and Rinschen, Markus M. (2022). MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells. J. Proteomics, 252. AMSTERDAM: ELSEVIER. ISSN 1876-7737

Reuter, Miriam S., Zech, Michael, Hempel, Maja, Altmueller, Janine, Heung, Tracy, Poelsler, Laura, Santer, Rene, Thiele, Holger, Trost, Brett ORCID: 0000-0003-4863-7273, Kubisch, Christian ORCID: 0000-0003-4220-0978, Scherer, Stephen W. ORCID: 0000-0002-8326-1999, Rudnik-Schoneborn, Sabine, Bassett, Anne S. and Lessel, Davor ORCID: 0000-0003-4496-244X (2022). Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. Eur. J. Hum. Genet., 30 (5). S. 611 - 619. LONDON: SPRINGERNATURE. ISSN 1476-5438

Reynolds, John J., Bicknell, Louise S., Carroll, Paula, Higgs, Martin R., Shaheen, Ranad, Murray, Jennie E., Papadopoulos, Dimitrios K., Leitch, Andrea, Murina, Olga ORCID: 0000-0003-1650-2892, Tarnauskaite, Zygimante, Wessel, Sarah R., Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex ORCID: 0000-0002-4952-8573, Mottram, Rachel M. A., Logan, Clare V., Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C., Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S., Amar, Ariella, Prescott, Natalie J., Bober, Michael B., Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmueller, Janine, Al Balwi, Mohammed ORCID: 0000-0003-2910-0390, Brady, Angela F., Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D., Hobson, Emma, Nurnberg, Peter, Percin, E. Ferda, Peron, Angela ORCID: 0000-0002-1769-6548, Spaccini, Luigina, Quigley, Alan J., Thakur, Seema, Wise, Carol A., Yoon, Grace, Alnemer, Maha, Tomancak, Pavel ORCID: 0000-0002-2222-9370, Yigit, Goekhan, Taylor, A. Malcolm R., Reijns, Martin A. M., Simpson, Michael A., Cortez, David, Alkuraya, Fowzan S., Mathew, Christopher G., Jackson, Andrew P. and Stewart, Grant S. (2017). Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nature Genet., 49 (4). S. 537 - 553. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Rolfes, Muriel, Borde, Julika, Moellenhoff, Kathrin, Kayali, Mohamad ORCID: 0000-0003-2092-5695, Ernst, Corinna ORCID: 0000-0001-7756-8815, Gehrig, Andrea, Sutter, Christian ORCID: 0000-0003-4051-5888, Ramser, Juliane, Niederacher, Dieter, Horvath, Judit, Arnold, Norbert, Meindl, Alfons, Auber, Bernd, Rump, Andreas, Wang-Gohrke, Shan, Ritter, Julia, Hentschel, Julia, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Rhiem, Kerstin, Engel, Christoph ORCID: 0000-0002-7247-282X, Wappenschmidt, Barbara, Schmutzler, Rita K., Hahnen, Eric and Hauke, Jan ORCID: 0000-0001-8236-4075 (2022). Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancers, 14 (13). BASEL: MDPI. ISSN 2072-6694

Romano, Maria-Teresa, Tafazzoli, Aylar, Mattern, Maximilian, Sivalingam, Sugirthan, Wolf, Sabrina, Rupp, Alexander ORCID: 0000-0002-2131-4581, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Ellwanger, Juergen, Gambon, Reto, Baumer, Alessandra, Kohlschmidt, Nicolai, Metze, Dieter, Holdenrieder, Stefan, Paus, Ralf, Luetjohann, Dieter, Frank, Jorge, Geyer, Matthias ORCID: 0000-0002-7718-5002, Bertolini, Marta ORCID: 0000-0002-5927-6998, Kokordelis, Pavlos and Betz, Regina C. (2018). Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am. J. Hum. Genet., 103 (5). S. 777 - 786. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Rosin, Nadine, Elcioglu, Nursel H., Beleggia, Filippo ORCID: 0000-0003-0234-7094, Isguven, Pinar, Altmueller, Janine, Thiele, Holger, Steindl, Katharina, Joset, Pascal, Rauch, Anita ORCID: 0000-0003-2930-3163, Nuernberg, Peter, Wollnik, Bernd and Yigit, Goekhan (2015). Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Hum. Mol. Genet., 24 (13). S. 3708 - 3718. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Rosswog, Carolina, Bartenhagen, Christoph, Welte, Anne, Kahlert, Yvonne, Hemstedt, Nadine, Lorenz, Witali, Cartolano, Maria, Ackermann, Sandra ORCID: 0000-0002-5869-7344, Perner, Sven, Vogel, Wenzel, Altmueller, Janine, Nuernberg, Peter, Hertwig, Falk, Goehring, Gudrun, Lilienweiss, Esther, Stuetz, Adrian M., Korbel, Jan O., Thomas, Roman K., Peifer, Martin and Fischer, Matthias (2021). Chromothripsis followed by circular recombination drives oncogene amplification in human cancer. Nature Genet., 53 (12). S. 1673 - 1706. BERLIN: NATURE PORTFOLIO. ISSN 1546-1718

Sauvigny, Thomas, Alawi, Malik, Krause, Linda ORCID: 0000-0002-8490-5717, Renner, Sina, Spohn, Michael, Busch, Alice, Kolbe, Verena, Altmueller, Janine, Loescher, Britt-Sabina, Franke, Andre, Brockmann, Christian, Lieb, Wolfgang, Westphal, Manfred, Schmidt, Nils Ole ORCID: 0000-0001-6910-8843, Regelsberger, Jan and Rosenberger, Georg (2020). Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage. J. Neurol., 267 (9). S. 2533 - 2546. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-1459

Schaufler, Diana, Ast, David F., Tumbrink, Hannah L., Abedpour, Nima, Maas, Lukas, Schwaebe, Ayla E., Spille, Inga, Lennartz, Stefanie, Fassunke, Jana, Aldea, Mihaela, Besse, Benjamin, Planchard, David, Nogova, Lucia, Michels, Sebastian, Kobe, Carsten, Persigehl, Thorsten, Westphal, Theresa, Koleczko, Sophia, Fischer, Rieke, Weber, Jan-Phillip, Altmueller, Janine, Thomas, Roman K., Merkelbach-Bruse, Sabine, Gautschi, Oliver, Mezquita, Laura, Buettner, Reinhard, Wolf, Juergen, Peifer, Martin, Braegelmann, Johannes, Scheffler, Matthias and Sos, Martin L. (2021). Clonal dynamics of BRAF-driven drug resistance in EGFR-mutant lung cancer. npj Precis. Oncol., 5 (1). BERLIN: NATURE PORTFOLIO. ISSN 2397-768X

Schelhorn, Sven-Eric, Fischer, Matthias, Tolosi, Laura, Altmueller, Janine, Nuernberg, Peter, Pfister, Herbert, Lengauer, Thomas and Berthold, Frank (2013). Sensitive Detection of Viral Transcripts in Human Tumor Transcriptomes. PLoS Comput. Biol., 9 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7358

Schiffer, Philipp H., Kroiher, Michael, Kraus, Christopher, Koutsovoulos, Georgios D., Kumar, Sujai ORCID: 0000-0001-5902-6641, Camps, Julia I. R., Nsah, Ndifon A., Stappert, Dominik, Morris, Krystalynne, Heger, Peter ORCID: 0000-0003-2583-2981, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Nuernberg, Peter, Thomas, W. Kelley, Blaxter, Mark L. and Schierenberg, Einhard (2013). The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda. BMC Genomics, 14. LONDON: BMC. ISSN 1471-2164

Schlautmann, Lena P., Lackmann, Jan-Wilm ORCID: 0000-0001-8182-8034, Altmueller, Janine, Dieterich, Christoph ORCID: 0000-0001-9468-6311, Boehm, Volker ORCID: 0000-0001-7588-9842 and Gehring, Niels H. (2022). Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance. Nucleic Acids Res., 50 (10). S. 5899 - 5919. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja ORCID: 0000-0002-4472-8584, Holm, Rikke, Baumann, Matthias, Koenig, Jens, Lee, Jessica J. Y., Drogemoller, Britt ORCID: 0000-0002-3348-5855, Imminger, Katrin, Beck, Bodo B., Altmueller, Janine, Thiele, Holger, Waldegger, Siegfried, van't Hoff, William, Kleta, Robert, Warth, Richard ORCID: 0000-0001-6084-0659, van Karnebeek, Clara D. M., Vilsen, Bente ORCID: 0000-0002-4727-9382, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X and Konrad, Martin (2018). Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. Am. J. Hum. Genet., 103 (5). S. 808 - 817. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Schlingmann, Karl P., Jouret, Francois, Shen, Kuang, Nigam, Anukrati, Arjona, Francisco J., Dafinger, Claudia, Houillier, Pascal, Jones, Deborah P., Kleinerueschkamp, Felix, Oh, Jun, Godefroid, Nathalie, Eltan, Mehmet, Guran, Tulay, Burtey, Stephane, Parotte, Marie-Christine, Koenig, Jens, Braun, Alina, Bos, Caro ORCID: 0000-0001-5016-9435, Serra, Maria Ibars, Rehmann, Holger, Zwartkruis, Fried J. T., Renkema, Kirsten Y., Klingel, Karin, Schulze-Bahr, Eric, Schermer, Bernhard, Bergmann, Carsten, Altmueller, Janine, Thiele, Holger, Beck, Bodo B., Dahan, Karin, Sabatini, David, Liebau, Max C., Vargas-Poussou, Rosa, Knoers, Nine V. A. M., Konrad, Martin and de Baaij, Jeroen H. F. (2021). mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J. Am. Soc. Nephrol., 32 (11). S. 2885 - 2900. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Schmidt, Julia, Dreha-Kulaczewski, Steffi, Zafeiriou, Maria-Patapia, Schreiber, Marie-Kristin, Wilken, Bernd, Funke, Rudolf, Neuhofer, Christiane M. ORCID: 0000-0002-5037-4444, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Biskup, Saskia, Li, Yun, Zimmermann, Wolfram Hubertus, Kaulfuss, Silke, Yigit, Goekhan and Wollnik, Bernd (2022). Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum. Front. Cell. Dev. Biol., 10. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-634X

Schmidt, Julia ORCID: 0000-0002-5942-2924, Goergens, Jonas, Pochechueva, Tatiana, Kotter, Annika, Schwenzer, Niko, Sitte, Maren, Werner, Gesa, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Isensee, Joerg, Li, Yun, Mueller, Christian, Leube, Barbara, Reinhardt, H. Christian, Hucho, Tim ORCID: 0000-0002-4147-9308, Salinas, Gabriela, Helm, Mark, Jachimowicz, Ron D., Wieczorek, Dagmar, Kohl, Tobias, Lehnart, Stephan E., Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2021). Biallelic variants in YRDC cause a developmental disorder with progeroid features. Hum. Genet., 140 (12). S. 1679 - 1694. NEW YORK: SPRINGER. ISSN 1432-1203

Schmidt, Julia ORCID: 0000-0002-5942-2924, Schreiber, Gudrun, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Li, Yun, Kaulfuss, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). Familial cleft tongue caused by a unique translation initiation codon variant in TP63. Eur. J. Hum. Genet., 30 (2). S. 211 - 219. LONDON: SPRINGERNATURE. ISSN 1476-5438

Schoebel, Nicole, Radtke, Debbie, Luebbert, Matthias, Gisselmann, Guenter, Lehmann, Ramona, Cichy, Annika ORCID: 0000-0002-4620-7854, Schreiner, Benjamin S. P., Altmueller, Janine, Spector, Alan C., Spehr, Jennifer, Hatt, Hanns and Wetzel, Christian H. (2012). Trigeminal Ganglion Neurons of Mice Show Intracellular Chloride Accumulation and Chloride-Dependent Amplification of Capsaicin-Induced Responses. PLoS One, 7 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Scholz, Paul, Kalbe, Benjamin, Jansen, Fabian, Altmueller, Janine, Becker, Christian, Mohrhardt, Julia, Schreiner, Benjamin, Gisselmann, Guenter, Hatt, Hanns and Osterloh, Sabrina (2016). Transcriptome Analysis of Murine Olfactory Sensory Neurons during Development Using Single Cell RNA-Seq. Chem. Senses, 41 (4). S. 313 - 324. OXFORD: OXFORD UNIV PRESS. ISSN 1464-3553

Schrock, Evelin, Benet-Pages, Anna, Schuber, Steffen, Janavicius, Ramunas, Hackmann, Karl, Betcheva-Krajcir, Elitza, Mackenroth, Luisa, Lehmann, Janin, Nissen, Am, Altmueller, Janine, Thiele, Holger, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Klink, Barbara, Kuhlmann, Jan D., Tzschach, Andreas ORCID: 0000-0002-6840-965X, Kast, Karin, Wimberger, Pauline, Holinski-Feder, Elke, Meind, Alfons, Emmert, Steffen and Rump, Andreas (2015). Germline mutations in patients with hereditary breast and ovarian cancer establish ERCC2 as a cancer susceptibility gene. Cancer Res., 75. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7445

Schroeder, Simone, Li, Yun, Yigit, Gokhan, Altmueller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Korenke, G. Christoph, Kottke, Raimund, Mayr, Johannes A., Preisel, Martin, Toelle, Sandra P., Wente-Schulz, Sarah, Wortmann, Saskia B., Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd and Brockmann, Knut . Heterozygous truncating variants inSUFUcause congenital ocular motor apraxia. Genet. Med.. LONDON: SPRINGERNATURE. ISSN 1530-0366

Schroeder, Simone, Wieland, Britta, Ohlenbusch, Andreas, Yigit, Goekhan, Altmueller, Janine, Boltshauser, Eugen, Doerk, Thilo and Brockmann, Knut (2020). Evidence of pathogenicity for the leaky splice variant c.1066-6T>G inATM. Am. J. Med. Genet. A, 182 (12). S. 2971 - 2976. HOBOKEN: WILEY. ISSN 1552-4833

Schwarzenberger, Anke, Sadler, Thomas ORCID: 0000-0002-8621-379X, Motameny, Susanne, Ben-Khalifa, Kamel, Frommolt, Peter ORCID: 0000-0002-1966-8014, Altmueller, Janine, Konrad, Kathryn and von Elert, Eric ORCID: 0000-0001-7758-716X (2014). Deciphering the genetic basis of microcystin tolerance. BMC Genomics, 15. LONDON: BMC. ISSN 1471-2164

Seidel, Danila ORCID: 0000-0003-4388-3117, Zander, Thomas, Heukamp, Lukas C., Peifer, Martin ORCID: 0000-0002-5243-5503, Bos, Marc, Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Leenders, Frauke, Lu, Xin, Ansen, Sascha, Gardizi, Masyar, Nguyen, Chau, Berg, Johannes, Russell, Prudence, Wainer, Zoe, Schildhaus, Hans-Ulrich, Rogers, Toni-Maree, Solomon, Benjamin, Pao, William, Carter, Scott L., Getz, Gad, Hayes, D. Neil, Wilkerson, Matthew D., Thunnissen, Erik, Travis, William D., Perner, Sven, Wright, Gavin ORCID: 0000-0002-7000-9305, Brambilla, Elisabeth, Buettner, Reinhard, Wolf, Juergen, Thomas, Roman, Gabler, Franziska, Wilkening, Ines, Mueller, Christian, Dahmen, Ilona, Menon, Roopika, Koenig, Katharina, Albus, Kerstin, Merkelbach-Bruse, Sabine, Fassunke, Jana, Schmitz, Katja, Kuenstlinger, Helen, Kleine, Michaela, Binot, Elke, Querings, Silvia, Altmueller, Janine, Boessmann, Ingelore, Nuemberg, Peter, Schneider, Peter, Bogus, Magdalena, Buettner, Reinhard, Perner, Sven, Russell, Prudence, Thunnissen, Erik, Travis, William D., Brambilla, Elisabeth, Soltermann, Alex, Moch, Holger, Brustugun, Odd Terje, Solberg, Steinar, Lund-Iversen, Marius, Helland, Aslaug ORCID: 0000-0002-5520-0275, Muley, Thomas, Hoffmann, Hans, Schnabel, Philipp A., Chen, Yuan, Groen, Harry, Timens, Wim ORCID: 0000-0002-4146-6363, Sietsma, Hannie, Clement, Joachim H. ORCID: 0000-0002-6601-2456, Weder, Walter, Saenger, Joerg, Stoelben, Erich, Ludwig, Corinna, Engel-Riedel, Walburga, Smit, Egbert, Heideman, Danille A. M., Snijders, Peter J. F., Nogova, Lucia, Sos, Martin L., Mattonet, Christian, Toepelt, Karin, Scheffler, Matthias ORCID: 0000-0002-9031-1368, Goekkurt, Eray, Kappes, Rainer, Krueger, Stefan, Kambartel, Kato, Behringer, Dirk, Schulte, Wolfgang, Galetke, Wolfgang, Randerath, Winfried, Heldwein, Matthias, Schlesinger, Andreas, Serke, Monika, Hekmat, Khosro, Frank, Konrad F., Schnell, Roland, Reiser, Marcel, Huenerlituerkoglu, Ali-Nuri, Schmitz, Stephan, Meffert, Lisa, Ko, Yon-Dschun, Litt-Lampe, Markus, Gerigk, Ulrich, Fricke, Rainer, Besse, Benjamin ORCID: 0000-0001-5090-8189, Brambilla, Christian, Lantuejoul, Sylvie, Lorimier, Philippe, Moro-Sibilot, Denis, Cappuzzo, Federico, Ligorio, Claudia, Damiani, Stefania, Field, John K. ORCID: 0000-0003-3951-6365, Hyde, Russell, Validire, Pierre, Girard, Philippe, Muscarella, Lucia A., Fazio, Vito M., Hallek, Michael, Soria, Jean-Charles, Carter, Scott L., Getz, Gad, Hayes, D. Neil, Wilkerson, Matthew D., Achter, Viktor, Lang, Ulrich ORCID: 0000-0001-7166-0805, Seidel, Danila ORCID: 0000-0003-4388-3117, Zander, Thomas, Heukamp, Lukas C., Peifer, Martin ORCID: 0000-0002-5243-5503, Bos, Marc, Pao, William, Travis, William D., Brambilla, Elisabeth, Buettner, Reinhard, Wolf, Juergen and Thomas, Roman K. (2013). A Genomics-Based Classification of Human Lung Tumors. Sci. Transl. Med., 5 (209). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 1946-6242

Sofiadis, Konstantinos, Josipovic, Natasa ORCID: 0000-0001-7683-0869, Nikolic, Milos ORCID: 0000-0003-0029-7601, Kargapolova, Yulia ORCID: 0000-0001-7541-5778, Ubelmesser, Nadine, Varamogianni-Mamatsi, Vassiliki, Zirkel, Anne, Papadionysiou, Ioanna, Loughran, Gary, Keane, James ORCID: 0000-0001-7640-8326, Michel, Audrey, Gusmao, Eduardo G., Becker, Christian, Altmueller, Janine, Georgomanolis, Theodore, Mizi, Athanasia and Papantonis, Argyris (2021). HMGB1 coordinates SASP-related chromatin folding and RNA homeostasis on the path to senescence. Mol. Syst. Biol., 17 (6). HOBOKEN: WILEY. ISSN 1744-4292

Spielmann, Malte ORCID: 0000-0002-0583-4683, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nuernberg, Gudrun, Sowada, Nadine, Lupianez, Dario G. ORCID: 0000-0002-3165-036X, Harabula, Izabela, Floettmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Ruestem, Altmueller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nuernberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian ORCID: 0000-0003-4220-0978, Mundlos, Stefan and Borck, Guntram (2016). Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res., 26 (2). S. 183 - 192. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1549-5469

Spier, Isabel, Holzapfel, Stefanie, Altmueller, Janine, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Horpaopan, Sukanya, Vogt, Stefanie, Chen, Sophia, Morak, Monika, Raeder, Susanne, Kayser, Katrin, Stienen, Dietlinde, Adam, Ronja, Nuernberg, Peter, Plotz, Guido, Holinski-Feder, Elke, Lifton, Richard P., Thiele, Holger, Hoffmann, Per, Steinke, Verena and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2015). Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int. J. Cancer, 137 (2). S. 320 - 332. HOBOKEN: WILEY-BLACKWELL. ISSN 1097-0215

Spier, Isabel, Kerick, Martin ORCID: 0000-0002-6298-4514, Drichel, Dmitriy ORCID: 0000-0001-5978-3458, Horpaopan, Sukanya, Altmueller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Adam, Ronja, Zhao, Bixiao ORCID: 0000-0002-1775-1690, Becker, Tim, Lifton, Richard P., Holinski-Feder, Elke, Perner, Sven, Thiele, Holger, Noethen, Markus M., Hoffmann, Per, Timmermann, Bernd, Schweiger, Michal R. and Aretz, Stefan ORCID: 0000-0002-5228-1890 (2016). Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Fam. Cancer, 15 (2). S. 281 - 289. DORDRECHT: SPRINGER. ISSN 1573-7292

Sukumaran, Salil K., Stumpf, Maria, Salamon, Sarah, Ahmad, Ilyas, Bhattacharya, Kurchi, Fischer, Sarah ORCID: 0000-0001-6227-3950, Mueller, Rolf, Altmueller, Janine, Budde, Birgit, Thiele, Holger, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf, Nuernberg, Peter, Baig, Shahid Mahmood, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 and Noegel, Angelika A. (2017). CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. Mol. Genet. Genomics, 292 (2). S. 365 - 384. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1617-4623

Szczepanski, Sandra, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Sur, Ilknur, Altmueller, Janine, Thiele, Holger, Abdullah, Uzma, Waseem, Syeda Seema, Moawia, Abubakar, Nuernberg, Gudrun, Noegel, Angelika Anna, Baig, Shahid Mahmood and Nuernberg, Peter (2016). A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum. Genet., 135 (2). S. 157 - 171. NEW YORK: SPRINGER. ISSN 1432-1203

Theobald, Sebastian J., Simonis, Alexander ORCID: 0000-0003-2945-9897, Georgomanolis, Theodoros ORCID: 0000-0002-4066-9257, Kreer, Christoph ORCID: 0000-0002-9140-9850, Zehner, Matthias, Eisfeld, Hannah S., Albert, Marie-Christine, Chhen, Jason, Motameny, Susanne, Erger, Florian ORCID: 0000-0002-2768-1702, Fischer, Julia ORCID: 0000-0001-6138-7454, Malin, Jakob J. ORCID: 0000-0002-2989-0436, Graeb, Jessica, Winter, Sandra, Pouikli, Andromachi ORCID: 0000-0003-1868-6875, David, Friederike ORCID: 0000-0001-9521-5669, Boell, Boris, Koehler, Philipp ORCID: 0000-0002-7386-7495, Vanshylla, Kanika ORCID: 0000-0003-4552-9170, Gruell, Henning, Suarez, Isabelle, Hallek, Michael, Faetkenheuer, Gerd, Jung, Norma, Cornely, Oliver A., Lehmann, Clara, Tessarz, Peter ORCID: 0000-0002-6953-9835, Altmueller, Janine, Nuernberg, Peter, Kashkar, Hamid, Klein, Florian, Koch, Manuel ORCID: 0000-0002-2962-7814 and Rybniker, Jan (2021). Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19. EMBO Mol. Med., 13 (8). HOBOKEN: WILEY. ISSN 1757-4684

Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nuernberg, Peter, Neidhardt, John and Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS One, 11 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Tollot, Marie, Assmann, Daniela, Becker, Christian, Altmueller, Janine, Dutheil, Julien Y., Wegner, Carl-Eric ORCID: 0000-0002-4339-6602 and Kahmann, Regine (2016). The WOPR Protein Ros1 Is a Master Regulator of Sporogenesis and Late Effector Gene Expression in the Maize Pathogen Ustilago maydis. PLoS Pathog., 12 (6). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7374

Tsai, Teresa, Veitinger, Sophie, Peek, Irina, Busse, Daniela, Eckardt, Josephine, Vladimirova, Dilyana, Jovancevic, Nikolina, Wojcik, Sebastian, Gisselmann, Guenter, Altmueller, Janine, Staender, Sonja, Luger, Thomas, Paus, Ralf, Cheret, Jeremy and Hatt, Hanns (2017). Two olfactory receptors-OR2A4/7 and OR51B5-differentially affect epidermal proliferation and differentiation. Exp. Dermatol., 26 (1). S. 58 - 66. HOBOKEN: WILEY. ISSN 1600-0625

Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Erger, Florian ORCID: 0000-0002-2768-1702, Walsh, Patrick R., McNicholas, Bairbre, Fistrek, Margareta, Habbig, Sandra, Schumacher, Anna-Lena ORCID: 0000-0001-7739-486X, Folz-Donahue, Kat, Kukat, Christian ORCID: 0000-0003-1508-0229, Toliat, Mohammad R., Becker, Christian, Thiele, Holger, Kavanagh, David, Nuernberg, Peter, Beck, Bodo B. and Altmueller, Janine (2022). Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing. J. Mol. Diagn., 24 (6). S. 619 - 632. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1943-7811

Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc ORCID: 0000-0002-6552-8362, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette and Pauli, Silke (2020). De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. Hum. Genet., 139 (11). S. 1363 - 1380. NEW YORK: SPRINGER. ISSN 1432-1203

Usluer, Sunay, Kayserili, Melek Asli, Eken, Asli Gundogdu, Yis, Uluc, Leu, Costin ORCID: 0000-0003-0598-3301, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Caglayan, S. Hande (2017). Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). Eur. J. Paediatr. Neurol., 21 (5). S. 773 - 783. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Vasileiou, Georgia ORCID: 0000-0002-1993-1134, Vergarajauregui, Silvia ORCID: 0000-0002-9247-6123, Endele, Sabine, Popp, Bernt ORCID: 0000-0002-3679-1081, Buettner, Christian, Ekici, Arif B., Gerard, Marion, Bramswig, Nuria C., Albrecht, Beate, Clayton-Smith, Jill, Morton, Jenny, Tomkins, Susan, Low, Karen, Weber, Astrid, Wenzel, Maren, Altmueller, Janine, Li, Yun, Wollnik, Bernd, Hoganson, George, Plona, Maria-Renee, Cho, Megan T., Thiel, Christian T., Luedecke, Hermann-Josef, Strom, Tim M., Calpena, Eduardo ORCID: 0000-0001-6399-6528, Wilkie, Andrew O. M., Wieczorek, Dagmar, Engel, Felix B. ORCID: 0000-0003-2605-3429 and Reis, Andre ORCID: 0000-0002-6301-6363 (2018). Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am. J. Hum. Genet., 102 (3). S. 468 - 480. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Vesting, Anna Juliane, Jais, Alexander, Klemm, Paul, Steuernagel, Lukas ORCID: 0000-0003-0043-1436, Wienand, Peter, Fog-Tonnesen, Morten, Hvid, Henning, Schumacher, Anna-Lena, Kukat, Christian ORCID: 0000-0003-1508-0229, Nolte, Hendrik, Georgomanolis, Theodoros, Altmueller, Janine, Pasparakis', Manolis, Schmidt', Andreas, Krueger', Marcus, Supprian, Marc Schmidt, Waisman, Ari, Straub, Beate Katharina, Raschzok, Nathanael, Bernier, Michel, Birkenfeld, Andreas L. ORCID: 0000-0003-1407-9023, Hoevelmeyer, Nadine, Bruening, Jens C. and Wunderlich, F. Thomas (2022). NIK/MAP3K14 in hepatocytes orchestrates NASH to hepatocellular carcinoma progression via JAK2/STAT5 inhibition. Mol. Metab., 66. AMSTERDAM: ELSEVIER. ISSN 2212-8778

Volk, Alexander E., Hedergott, Andrea ORCID: 0000-0002-6398-3919, Preising, Markus, Rading, Sebastian, Fricke, Julia, Herkenrath, Peter, Nurnberg, Peter, Altmueller, Janine, von Ameln, Simon, Lorenz, Birgit, Neugebauer, Antje, Karsak, Meliha and Kubisch, Christian (2021). Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism. Hum. Genet., 140 (8). S. 1157 - 1169. NEW YORK: SPRINGER. ISSN 1432-1203

Volmering, Elisa, Niehusmann, Pitt, Peeva, Viktoriya, Grote, Alexander, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Altmueller, Janine, Nuernberg, Peter, Becker, Albert J., Schoch, Susanne, Elger, Christian E. and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2016). Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy. Acta Neuropathol., 132 (2). S. 277 - 289. NEW YORK: SPRINGER. ISSN 1432-0533

Wagener, Rabea, Lopez, Cristina ORCID: 0000-0001-6644-1659, Kleinheinz, Kortine, Bausinger, Julia, Aukema, Sietse M., Nagel, Inga, Toprak, Umut H., Seufert, Julian, Altmueller, Janine, Thiele, Holger, Schneider, Christof, Kolarova, Julia, Park, Jeongbin, Huebschmann, Daniel, Penas, Eva M. Murga, Drexler, Hans G., Attarbaschi, Andishe, Hovland, Randi, Kjeldsen, Eigil, Kneba, Michael, Kontny, Udo, de Leval, Laurence, Nuernberg, Peter, Oschlies, Ilske, Oscier, David, Schlegelberger, Brigitte, Stilgenbauer, Stephan, Woessmann, Wilhelm, Schlesner, Matthias ORCID: 0000-0002-5896-4086, Burkhardt, Birgit, Klapper, Wolfram, Jaffe, Elaine S., Kueppers, Ralf and Siebert, Reiner (2018). IG-MYC plus neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas. Blood, 132 (21). S. 2280 - 2286. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Wagener, Rabea, Seufert, Julian, Raimondi, Francesco, Bens, Susanne, Kleinheinz, Kortine, Nagel, Inga, Altmueller, Janine, Thiele, Holger, Huebschmann, Daniel, Kohler, Christian W., Nuernberg, Peter, Au-Yeung, Rex, Burkhardt, Birgit, Horn, Heike, Leoncini, Lorenzo, Jaffe, Elaine S., Ott, German, Rymkiewicz, Grzegorz ORCID: 0000-0002-3478-8014, Schlesner, Matthias ORCID: 0000-0002-5896-4086, Russell, Robert B., Klapper, Wolfram and Siebert, Reiner (2019). The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma. Blood, 133 (9). S. 962 - 967. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Wallmeier, Julia, Frank, Diana, Shoemark, Amelia, Noethe-Menchen, Tabea, Cindric, Sandra, Olbrich, Heike, Loges, Niki T., Aprea, Isabella, Dougherty, Gerard W., Pennekamp, Petra, Kaiser, Thomas ORCID: 0000-0002-6699-0014, Mitchison, Hannah M., Hogg, Claire, Carr, Siobhan B., Zariwala, Maimoona A., Ferkol, Thomas, Leigh, Margaret W., Davis, Stephanie D., Atkinson, Jeffrey, Dutcher, Susan K., Knowles, Michael R., Thiele, Holger, Altmueller, Janine, Krenz, Henrike, Woeste, Marius, Brentrup, Angela, Ahrens, Frank, Vogelberg, Christian, Morris-Rosendahl, Deborah J. and Omran, Heymut (2019). De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am. J. Hum. Genet., 105 (5). S. 1030 - 1040. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Wallmeroth, Damaris ORCID: 0000-0003-3437-4070, Lackmann, Jan-Wilm ORCID: 0000-0001-8182-8034, Kueckelmann, Sabrina ORCID: 0000-0001-8070-8823, Altmueller, Janine, Dieterich, Christoph ORCID: 0000-0001-9468-6311, Boehm, Volker ORCID: 0000-0001-7588-9842 and Gehring, Niels H. (2022). Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay. Embo J., 41 (10). HOBOKEN: WILEY. ISSN 1460-2075

Wang, Huijun, Humbatova, Aytaj, Liu, Yuanxiang, Qin, Wen, Lee, Mingyang, Cesarato, Nicole, Kortuem, Fanny, Kumar, Sheetal, Romano, Maria Teresa, Dai, Shangzhi, Mo, Ran, Sivalingam, Sugirthan, Motameny, Susanne, Wu, Yuan, Wang, Xiaopeng, Niu, Xinwu, Geng, Songmei, Bornholdt, Dorothea, Kroisel, Peter M., Tadini, Gianluca, Walter, Scott D., Hauck, Fabian, Girisha, Katta M., Calza, Anne-Marie, Bottani, Armand, Altmueller, Janine, Buness, Andreas, Yang, Shuxia, Sun, Xiujuan, Ma, Lin, Kutsche, Kerstin, Grzeschik, Karl-Heinz, Betz, Regina C. and Lin, Zhimiao (2020). Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. Am. J. Hum. Genet., 107 (1). S. 34 - 46. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Wang, Qi ORCID: 0000-0002-7827-4808, Boenigk, Sven, Boehm, Volker ORCID: 0000-0001-7588-9842, Gehring, Niels, Altmueller, Janine and Dieterich, Christoph ORCID: 0000-0001-9468-6311 (2021). Single-cell transcriptome sequencing on the Nanopore platform with ScNapBar. RNA, 27 (7). S. 763 - 771. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1469-9001

Warnat-Herresthal, Stefanie, Schultze, Hartmut ORCID: 0000-0001-5008-7851, Shastry, Krishnaprasad Lingadahalli, Manamohan, Sathyanarayanan, Mukherjee, Saikat, Garg, Vishesh ORCID: 0000-0001-5133-5896, Sarveswara, Ravi, Haendler, Kristian, Pickkers, Peter, Aziz, N. Ahmad, Ktena, Sofia, Tran, Florian, Bitzer, Michael, Ossowski, Stephan, Casadei, Nicolas, Herr, Christian, Petersheim, Daniel, Behrends, Uta, Kern, Fabian, Fehlmann, Tobias, Schommers, Philipp ORCID: 0000-0003-3375-6800, Lehmann, Clara, Augustin, Max, Rybniker, Jan, Altmueller, Janine, Mishra, Neha, Bernardes, Joana P., Kraemer, Benjamin, Bonaguro, Lorenzo, Schulte-Schrepping, Jonas, De Domenico, Elena ORCID: 0000-0003-0336-8284, Siever, Christian, Kraut, Michael, Desai, Milind, Monnet, Bruno, Saridaki, Maria, Siegel, Charles Martin, Drews, Anna, Nuesch-Germano, Melanie, Theis, Heidi, Heyckendorf, Jan, Schreiber, Stefan, Kim-Hellmuth, Sarah ORCID: 0000-0001-8791-5729, Nattermann, Jacob, Skowasch, Dirk, Kurth, Ingo, Keller, Andreas ORCID: 0000-0002-5361-0895, Bals, Robert, Nuernberg, Peter, Riess, Olaf, Rosenstiel, Philip, Netea, Mihai G., Theis, Fabian, Mukherjee, Sach, Backes, Michael, Aschenbrenner, Anna C., Ulas, Thomas, Breteler, Monique M. B., Giamarellos-Bourboulis, Evangelos J., Kox, Matthijs, Becker, Matthias, Cheran, Sorin, Woodacre, Michael S., Goh, Eng Lim and Schultze, Joachim L. ORCID: 0000-0003-2812-9853 (2021). Swarm Learning for decentralized and confidential clinical machine learning. Nature, 594 (7862). S. 265 - 290. BERLIN: NATURE RESEARCH. ISSN 1476-4687

Waseem, Syeda Seema, Moawia, Abubakar, Budde, Birgit, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Khan, Ayaz, Ali, Zafar ORCID: 0000-0002-2389-3337, Khan, Sheraz, Iqbal, Maria, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, ul Haque, Saif, Altmueller, Janine, Thiele, Holger, Hussain, Muhammad Sajid, Cirak, Sebahattin, Baig, Shahid Mahmood and Nuernberg, Peter (2021). A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Genes, 12 (10). BASEL: MDPI. ISSN 2073-4425

Weber, Lea, Al-Refae, Klaudia, Ebbert, Juliane, Jaegers, Peter, Altmueller, Janine, Becker, Christian, Hahn, Stephan, Gisselmann, Guenter and Hatt, Hanns (2017). Activation of odorant receptor in colorectal cancer cells leads to inhibition of cell proliferation and apoptosis. PLoS One, 12 (3). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Weber, Lea, Massberg, Desiree, Becker, Christian, Altmueller, Janine, Ubrig, Burkhard, Bonatz, Gabriele, Woelk, Gerhard, Philippou, Stathis, Tannapfel, Andrea, Hatt, Hanns and Gisselmann, Guenter (2018). Olfactory receptors as Biomarkers in human Breast carcinoma Tissues. Front. Oncol., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2234-943X

Weber, Lea V., Al-Refae, Klaudia, Woelk, Gerhard, Bonatz, Gabriele, Altmueller, Janine, Becker, Christian, Gisselmann, Guenter and Hatt, Hanns (2016). Expression and functionality of TRPV1 in breast cancer cells. Breast Cancer-Targets Ther., 8. S. 243 - 253. ALBANY: DOVE MEDICAL PRESS LTD. ISSN 1179-1314

Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betuel, Reutter, Heiko, Draaken, Markus ORCID: 0000-0002-4546-0786, Ludwig, Michael, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Stuart, Helen M., Ranjzad, Parisa ORCID: 0000-0001-7413-4157, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nuernberg, Peter and Woolf, Adrian S. ORCID: 0000-0001-5541-1358 (2011). Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am. J. Hum. Genet., 89 (5). S. 668 - 675. CAMBRIDGE: CELL PRESS. ISSN 0002-9297

Weber-Lassalle, Nana, Borde, Julika, Weber-Lassalle, Konstantin, Horvath, Judit, Niederacher, Dieter, Arnold, Norbert ORCID: 0000-0003-4523-8808, Kaulfuss, Silke, Ernst, Corinna, Paul, Victoria G., Honisch, Ellen, Klaschik, Kristina, Volk, Alexander E., Kubisch, Christian, Rapp, Steffen, Lichey, Nadine, Altmueller, Janine, Lepkes, Louisa, Pohl-Rescigno, Esther, Thiele, Holger, Nuernberg, Peter, Larsen, Mirjam, Richters, Lisa, Rhiem, Kerstin, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric and Hauke, Jan (2019). Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast Cancer Res., 21. LONDON: BMC. ISSN 1465-542X

Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Gross, Eva, Bluemcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Mueller, Clemens R., Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmueller, Janine, Neidhardt, Guido, Nuernberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad ORCID: 0000-0001-6127-6308, Volk, Alexander E., Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian ORCID: 0000-0003-4220-0978, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Arnold, Norbert ORCID: 0000-0003-4523-8808, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2018). BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res., 20. LONDON: BMC. ISSN 1465-5411

Weiss, Jonathan, Sos, Martin L., Seidel, Danila, Peifer, Martin ORCID: 0000-0002-5243-5503, Zander, Thomas, Heuckmann, Johannes M., Ullrich, Roland T., Menon, Roopika, Maier, Sebastian, Soltermann, Alex, Moch, Holger, Wagener, Patrick, Fischer, Florian, Heynck, Stefanie, Koker, Mirjam, Schoettle, Jakob, Leenders, Frauke, Gabler, Franziska, Dabow, Ines, Querings, Silvia, Heukamp, Lukas C., Balke-Want, Hyatt, Ansen, Sascha, Rauh, Daniel ORCID: 0000-0002-1970-7642, Baessmann, Ingelore, Altmueller, Janine, Wainer, Zoe, Conron, Matthew, Wright, Gavin ORCID: 0000-0002-7000-9305, Russell, Prudence, Solomon, Ben, Brambilla, Elisabeth, Brambilla, Christian, Lorimier, Philippe, Sollberg, Steinar, Brustugun, Odd Terje, Engel-Riedel, Walburga, Ludwig, Corinna, Petersen, Iver, Saenger, Joerg, Clement, Joachim, Groen, Harry, Timens, Wim ORCID: 0000-0002-4146-6363, Sietsma, Hannie, Thunnissen, Erik ORCID: 0000-0001-5355-8508, Smit, Egbert, Heideman, Danielle, Cappuzzo, Federico, Ligorio, Claudia, Damiani, Stefania, Hallek, Michael, Beroukhim, Rameen, Pao, William, Klebl, Bert, Baumann, Matthias, Buettner, Reinhard, Ernestus, Karen, Stoelben, Erich, Wolf, Juergen, Nuernberg, Peter, Perner, Sven and Thomas, Roman K. (2010). Frequent and Focal FGFR1 Amplification Associates with Therapeutically Tractable FGFR1 Dependency in Squamous Cell Lung Cancer. Sci. Transl. Med., 2 (62). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 1946-6242

Weissbach, Susann, Reinert, Marie-Christine, Altmueller, Janine, Kraetzner, Ralph, Thiele, Holger, Rosenbaum, Thorsten, Nuernberg, Peter and Gaertner, Jutta (2017). A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am. J. Med. Genet. A, 173 (10). S. 2803 - 2808. HOBOKEN: WILEY. ISSN 1552-4833

Weitensteiner, Valerie, Zhang, Rong, Bungenberg, Julia, Marks, Matthias, Gehlen, Jan, Ralser, Damian J., Hilger, Alina C., Sharma, Amit ORCID: 0000-0002-2216-5389, Schumacher, Johannes, Gembruch, Ulrich ORCID: 0000-0001-8284-4669, Merz, Waltraut M., Becker, Albert, Altmueller, Janine, Thiele, Holger, Herrmann, Bernhard G., Odermatt, Benjamin, Ludwig, Michael and Reutter, Heiko (2018). Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene. Birth Defects Res., 110 (7). S. 587 - 598. HOBOKEN: WILEY. ISSN 2472-1727

Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt ORCID: 0000-0002-3679-1081, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo ORCID: 0000-0001-9599-9854, Nuernberg, Peter, Reinhardt, Richard ORCID: 0000-0001-9376-2132, Reis, Andre ORCID: 0000-0002-6301-6363, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno and Beck, Bodo B. (2018). Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Boegershausen, Nina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Steiner-Haldenstaett, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel ORCID: 0000-0002-0680-200X, Thiele, Holger, Altmueller, Janine, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Klein-Hitpass, Ludger, Bohringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Chrzanowska, Krystyna ORCID: 0000-0003-3888-0624, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina ORCID: 0000-0002-9254-0084, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Malgorzata ORCID: 0000-0001-8721-210X, Guillen-Navarro, Encarnacion, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Ozlem, Lopez-Gonzalez, Vanesa, Kuechler, Alma, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Mari, Francesca ORCID: 0000-0003-1992-1654, Marozza, Annabella, Dramard, Michele Mathieu, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita ORCID: 0000-0003-2930-3163, Renieri, Alessandra ORCID: 0000-0002-0846-9220, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane ORCID: 0000-0001-8002-2020, Nuernberg, Peter, Rahmann, Sven, Vermeesch, Joris, Luedecke, Hermann-Josef, Zeschnigk, Michael and Wollnik, Bernd (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum. Mol. Genet., 22 (25). S. 5121 - 5136. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Windpassinger, Christian, Piard, Juliette, Bonnard, Carine, Alfadhel, Majid, Lim, Shuhui, Bisteau, Xavier ORCID: 0000-0002-8896-5098, Blouin, Stephane ORCID: 0000-0001-6575-8443, Ali, Nur'Ain B., Ng, Alvin Yu Jin, Lu, Hao, Tohari, Sumanty, Talib, S. Zakiah A., van Hul, Noemi, Caldez, Matias J., Van Maldergem, Lionel ORCID: 0000-0001-8880-5214, Yigit, Gokhan, Kayserili, Hulya, Youssef, Sameh A., Coppola, Vincenzo ORCID: 0000-0001-6163-1779, de Bruin, Alain, Tessarollo, Lino, Choi, Hyungwon ORCID: 0000-0002-6687-3088, Rupp, Verena ORCID: 0000-0003-0234-3325, Roetzer, Katharina, Roschger, Paul, Klaushofer, Klaus, Altmueller, Janine, Roy, Sudipto, Venkatesh, Byrappa ORCID: 0000-0003-3620-0277, Ganger, Rudolf, Grill, Franz, Ben Chehida, Farid, Wollnik, Bernd, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Al Kaissi, Ali, Reversade, Bruno and Kaldis, Philipp ORCID: 0000-0002-7247-7591 (2017). CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. Am. J. Hum. Genet., 101 (3). S. 391 - 404. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Yigit, Goekhan, Saida, Ken, DeMarzo, Danielle, Miyake, Noriko, Fujita, Atsushi, Yang Tan, Tiong, White, Susan M., Wadley, Alexandrea, Toliat, Mohammad R., Motameny, Susanne, Franitza, Marek, Stutterd, Chloe A., Chong, Pin F., Kira, Ryutaro ORCID: 0000-0002-6878-5081, Sengoku, Toru ORCID: 0000-0001-9461-8714, Ogata, Kazuhiro, Guillen Sacoto, Maria J., Fresen, Christine, Beck, Bodo B., Nuernberg, Peter, Dieterich, Christoph, Wollnik, Bernd, Matsumoto, Naomichi and Altmueller, Janine (2020). The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum. Mutat., 41 (3). S. 591 - 600. HOBOKEN: WILEY. ISSN 1098-1004

Yigit, Goekhan, Wieczorek, Dagmar, Boegershausen, Nina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Moeller-Hartmann, Claudia, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter and Wollnik, Bernd (2016). A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation. Am. J. Med. Genet. A, 170 (3). S. 728 - 734. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

Yigit, Gokhan, Sheffer, Ruth, Daana, Muhannad, Li, Yun, Kaygusuz, Emrah, Mor-Shakad, Hagar, Altmueller, Janine, Nuernberg, Peter, Douiev, Liza ORCID: 0000-0001-5120-698X, Kaulfuss, Silke ORCID: 0000-0003-2577-9711, Burfeind, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364 and Brockmann, Knut . Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state. J. Med. Genet.. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Yu, Pei-Hua, Kuo, Yuh-Ren, Altmueller, Janine and Hwang, Daw-Yang (2018). Senior-Loken syndrome with IQCB1 mutation in Taiwan. Kaohsiung J. Med. Sci., 34 (10). S. 588 - 590. TAIPEI: ELSEVIER TAIWAN. ISSN 1607-551X

Zhang, Shu, Uebelmesser, Nadine, Josipovic, Natasa ORCID: 0000-0001-7683-0869, Forte, Giada ORCID: 0000-0001-9939-4465, Slotman, Johan A. ORCID: 0000-0001-9705-9620, Chiang, Michael ORCID: 0000-0002-1620-2550, Gothe, Henrike, Gusmao, Eduardo Gade, Becker, Christian, Altmueller, Janine, Houtsmuller, Adriaan B., Roukos, Vassilis, Wendt, Kerstin S., Marenduzzo, Davide and Papantonis, Argyris (2021). RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis. Sci. Adv., 7 (43). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 2375-2548

Zirkel, Anne, Nikolic, Milos ORCID: 0000-0003-0029-7601, Sofiadis, Konstantinos, Mallm, Jan-Philipp, Brackley, Chris A., Gothe, Henrike, Drechsel, Oliver, Becker, Christian, Altmueller, Janine, Josipovic, Natasa, Georgomanolis, Theodore, Brant, Lilija, Franzen, Julia, Koker, Mirjam, Gusmao, Eduardo G., Costa, Ivan G. ORCID: 0000-0003-2890-8697, Ullrich, Roland T., Wagner, Wolfgang ORCID: 0000-0002-1971-3217, Roukos, Vassilis ORCID: 0000-0002-5065-3937, Nuernberg, Peter, Marenduzzo, Davide ORCID: 0000-0003-3974-4915, Rippe, Karsten ORCID: 0000-0001-9951-9395 and Papantonis, Argyris ORCID: 0000-0001-7551-1073 (2018). HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types. Mol. Cell, 70 (4). S. 730 - 751. CAMBRIDGE: CELL PRESS. ISSN 1097-4164

van Doormaal, Perry T. C., Ticozzi, Nicola ORCID: 0000-0001-5963-7426, Weishaupt, Jochen H., Kenna, Kevin, Diekstra, Frank P., Verde, Federico ORCID: 0000-0002-3977-6995, Andersen, Peter M., Dekker, Annelot M., Tiloca, Cinzia, Marroquin, Nicolai, Overste, Daniel J., Pensato, Viviana ORCID: 0000-0001-9798-2669, Nuernberg, Peter, Pulit, Sara L., Schellevis, Raymond D., Calini, Daniela, Altmueller, Janine, Francioli, Laurent C., Muller, Bernard, Castellotti, Barbara, Motameny, Susanne, Ratti, Antonia, Wolf, Joachim, Gellera, Cinzia, Ludolph, Albert C., van den Berg, Leonard H., Kubisch, Christian ORCID: 0000-0003-4220-0978, Landers, John E., Veldink, Jan H., Silani, Vincenzo and Volk, Alexander E. (2017). The role of de novo mutations in the development of amyotrophic lateral sclerosis. Hum. Mutat., 38 (11). S. 1534 - 1542. HOBOKEN: WILEY. ISSN 1098-1004

van der Wijst, Jenny ORCID: 0000-0002-1547-516X, Konrad, Martin, Verkaart, Sjoerd A. J., Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Latta, Femke, Altmueller, Janine, Thieled, Holger, Beck, Bodo, Schlingmann, Karl Peter and de Baaij, Jeroen H. F. (2018). A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia. Nephron, 139 (4). S. 359 - 367. BASEL: KARGER. ISSN 2235-3186

This list was generated on Sun Jul 14 08:04:41 2024 CEST.