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Journal Article
Abdallah, Ali T., Fischer, Matthias, Nuernberg, Peter, Nothnagel, Michael ORCID: 0000-0001-8305-7114 and Frommolt, Peter
ORCID: 0000-0002-1966-8014
(2015).
CoNCoS: Copy number estimation in cancer with controlled support.
J. Bioinform. Comput. Biol., 13 (5).
LONDON:
IMPERIAL COLLEGE PRESS.
ISSN 1757-6334
Abou-Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie ORCID: 0000-0001-5132-0774, Balding, David J., Bast, Thomas, Baum, Larry, Becker, Albert J., Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F., Boysen, Katja E., Bradfield, Jonathan P., Brody, Lawrence C., Buono, Russell J., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Cavalleri, Gianpiero L., Cherny, Stacey S., Chinthapalli, Krishna, Coffey, Alison J., Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J., de Haan, Gerrit-Jan, De Jonghe, Peter, de Kovel, Carolien G. F., Delanty, Norman, Depondt, Chantal, Devinsky, Orrin
ORCID: 0000-0003-0044-4632, Dlugos, Dennis J., Doherty, Colin P., Elger, Christian E., Eriksson, Johan G., Ferraro, Thomas N., Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A., Freytag, Saskia, Gaus, Verena, Geller, Eric B., Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gui, Hongsheng
ORCID: 0000-0002-0460-7446, Guo, Youling, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andres, Jamnadas-Khoda, Jennifer
ORCID: 0000-0002-3372-4924, Johnson, Michael R., Kalviainen, Reetta, Kantanen, Anne-Mari, Kasperaviciute, Dalia, Trenite, Dorothee Kasteleijn-Nolst, Kirsch, Heidi E., Knowlton, Robert C., Koeleman, Bobby P. C., Krause, Roland
ORCID: 0000-0001-9938-7126, Krenn, Martin
ORCID: 0000-0003-3026-3082, Kunz, Wolfram S., Kuzniecky, Ruben, Kwan, Patrick, Lal, Dennis, Lau, Yu-Lung, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin
ORCID: 0000-0003-0598-3301, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes-Cendes, Iscia
ORCID: 0000-0002-6221-6822, Lowenstein, Daniel H., Malovini, Alberto, Marson, Anthony G., Mayer, Thomas, McCormack, Mark, Mills, James L., Mirza, Nasir, Moerzinger, Martina, Moller, Rikke S., Molloy, Anne M., Muhle, Hiltrud, Newton, Mark, Ng, Ping-Wing, Noethen, Markus M., Nuernberg, Peter, O'Brien, Terence J., Oliver, Karen L., Palotie, Aarno, Pangilinan, Faith, Peter, Sarah, Petrovski, Slave, Poduri, Annapurna, Privitera, Michael, Radtke, Rodney, Rau, Sarah, Reif, Philipp S., Reinthaler, Eva M., Rosenow, Felix, Sander, Josemir W., Sander, Thomas, Scattergood, Theresa, Schachter, Steven C., Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Sham, Pak C., Shih, Jerry J., Sills, Graeme J., Sisodiya, Sanjay M., Slattery, Lisa, Smith, Alexander, Smith, David F., Smith, Michael C., Smith, Philip E., Sonsma, Anja C. M., Speed, Doug
ORCID: 0000-0002-0096-9765, Sperling, Michael R., Steinhoff, Bernhard J., Stephani, Ulrich, Stevelink, Remi, Strauch, Konstantin, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Stroink, Hans, Surges, Rainer, Tan, K. Meng, Thio, Liu Lin
ORCID: 0000-0002-9779-7903, Thomas, G. Neil, Todaro, Marian, Tozzi, Rossana, Vari, Maria S., Vining, Eileen P. G., Visscher, Frank, von Spiczak, Sarah, Walley, Nicole M., Weber, Yvonne G., Wei, Zhi
ORCID: 0000-0001-6059-4267, Weisenberg, Judith, Whelan, Christopher D., Widdess-Walsh, Peter, Wolff, Markus
ORCID: 0000-0001-5640-0888, Wolking, Stefan
ORCID: 0000-0002-1460-6623, Yang, Wanling, Zara, Federico and Zimprich, Fritz
ORCID: 0000-0002-6998-5480
(2018).
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
Nat. Commun., 9.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723
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
Acuna, Mariana, Martinez, Pablo, Moraga, Carol, He, Xingxuan, Moraga, Mauricio, Hunter, Bessie, Nuernberg, Peter, Gutierrez, Rodrigo A., Gonzalez, Mauricio, Schuchman, Edward H., Luis Santos, Jose, Francisco Miquel, Juan, Mabe, Paulina and Zanlungo, Silvana (2016). Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. Eur. J. Hum. Genet., 24 (2). S. 208 - 214. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
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, 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
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
Balabanova, Yanina, Nikolayevskyy, Vladyslav ORCID: 0000-0002-9502-0332, Ignatyeva, Olga
ORCID: 0000-0003-2020-4206, Kontsevaya, Irina
ORCID: 0000-0003-3421-7550, Mironova, Svetlana, Kovalyov, Alexander, Kritsky, Andrey, Rodionova, Yulia, Fedorin, Ivan, Casali, Nicola, Hooper, Richard
ORCID: 0000-0002-1063-0917, Horstmann, Rolf D., Nejentsev, Sergey, Hoffner, Sven, Nuernberg, Peter and Drobniewski, Francis
(2015).
Beijing clades of Mycobacterium tuberculosis are associated with differential survival in HIV-negative Russian patients.
Infect. Genet. Evol., 36.
S. 517 - 524.
AMSTERDAM:
ELSEVIER SCIENCE BV.
ISSN 1567-7257
Bamborschke, Daniel, Daimagueler, Huelya-Sevcan, Hahn, Andreas, Hussain, Muhammad S., Nuernberg, Peter and Cirak, Sebahattin (2020). Mutation inCEP135causing primary microcephaly and subcortical heterotopia. Am. J. Med. Genet. A, 182 (10). S. 2450 - 2454. HOBOKEN: WILEY. ISSN 1552-4833
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
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
Basel-Vanagaite, Lina, Hershkovitz, Tova, Heyman, Eli, Raspall-Chaure, Miguel, Kakar, Naseebullah, Smirin-Yosef, Pola, Vila-Pueyo, Marta ORCID: 0000-0003-0652-2988, Kornreich, Liora, Thiele, Holger, Bode, Harald, Lagovsky, Irina, Dahary, Dvir, Haviv, Ami, Hubshman, Monika Weisz, Pasmanik-Chor, Metsada, Nuernberg, Peter, Gothelf, Doron, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Shohat, Mordechai, Macaya, Alfons and Borck, Guntram
(2013).
Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum.
Am. J. Hum. Genet., 93 (3).
S. 524 - 530.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
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
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
Becker, Kerstin, Siegert, Sabine, Toliat, Mohammad Reza, Du, Juanjiangmeng, Casper, Ramona, Dolmans, Guido H., Werker, Paul M., Tinschert, Sigrid, Franke, Andre ORCID: 0000-0003-1530-5811, Gieger, Christian
ORCID: 0000-0001-6986-9554, Strauch, Konstantin, Nothnagel, Michael
ORCID: 0000-0001-8305-7114, Nuernberg, Peter and Hennies, Hans Christian
(2016).
Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease.
PLoS One, 11 (7).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Bendon, Charlotte L., Fenwick, Aimee L., Hurst, Jane A., Nuernberg, Gudrun, Nuernberg, Peter, Wall, Steven A., Wilkie, Andrew O. M. and Johnson, David (2012). Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med. Genet., 13. LONDON: BMC. ISSN 1471-2350
Bey, Katharina, Lennertz, Leonhard, Markett, Sebastian, Petrovsky, Nadine, Gallinat, Juergen, Gruender, Gerhard, Spreckelmeyer, Katja N., Wienker, Thomas F., Mobascher, Arian, Dahmen, Norbert, Thuerauf, Norbert, Kornhuber, Johannes ORCID: 0000-0002-8096-3987, Kiefer, Falk, Toliat, Mohammad R., Nuernberg, Peter, Winterer, Georg and Wagner, Michael
ORCID: 0000-0003-2589-6440
(2016).
Replication of the association between CHRNA4 rs1044396 and harm avoidance in a large population-based sample.
Eur. Neuropsychopharmacol., 26 (1).
S. 150 - 156.
AMSTERDAM:
ELSEVIER SCIENCE BV.
ISSN 1873-7862
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, Gatinois, Vincent, Riehmer, Vera, Kayserili, Huelya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin OEzlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume ORCID: 0000-0002-9943-9368, Strom, Tim M., Fabre, Aurelie, Baynam, Gareth, Sanchez, Elodie, Nuernberg, Gudrun, Altunoglu, Umut
ORCID: 0000-0002-3172-5368, Capri, Yline, Isidor, Bertrand, Lacombe, Didier
ORCID: 0000-0002-8956-2207, Corsini, Carole, Cormier-Daire, Valerie, Sanlaville, Damien
ORCID: 0000-0001-9939-2849, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nuernberg, Peter, Meitinger, Thomas
ORCID: 0000-0002-8838-8403, Boduroglu, Koray
ORCID: 0000-0001-6260-1942, Zoll, Barbara, Lyonnet, Stanislas
ORCID: 0000-0001-5426-9417, Tzschach, Andreas
ORCID: 0000-0002-6840-965X, Verloes, Alain, Di Donato, Nataliya
ORCID: 0000-0001-9439-4677, Touitou, Isabelle, Netzer, Christian, Li, Yun, Genevieve, David, Yigit, Goekhan and Wollnik, Bernd
(2016).
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum. Mutat., 37 (9).
S. 847 - 865.
HOBOKEN:
WILEY.
ISSN 1098-1004
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
Bolz, Hanno Joern, Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Nuernberg, Peter, Karnati, Srikanth, Swan, Daniel, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Zaki, Maha
(2015).
PEX6 mutation causing deaf blindness with enamel dysplasia and microcephaly.
Invest. Ophthalmol. Vis. Sci., 56 (7).
ROCKVILLE:
ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
ISSN 1552-5783
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
Borck, Guntram, de Vries, Liat, Wu, Hsin-Jung, Smirin-Yosef, Pola, Nuernberg, Gudrun, Lagovsky, Irina, Ishida, Luis Henrique, Thierry, Patrick, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Nuernberg, Peter, Foley, John, Kubisch, Christian
ORCID: 0000-0003-4220-0978 and Basel-Vanagaite, Lina
(2014).
Homozygous truncating PTPRF mutation causes athelia.
Hum. Genet., 133 (8).
S. 1041 - 1048.
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
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Clin. Genet., 100 (4).
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Khan, Hina N., Perlee, Desiree, Schoenmaker, Lieke, Van Der Meer, Anne-Jan, Franitza, Marek, Toliat, Mohammad Reza, Nuernberg, Peter, Zwinderman, Aeilko H., van Der Poll, Tom and Scicluna, Brendon P. (2019). Leukocyte transcriptional signatures dependent on LPS dosage in human endotoxemia. J. Leukoc. Biol., 106 (5). S. 1153 - 1161. HOBOKEN: WILEY. ISSN 1938-3673
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OXFORD UNIV PRESS.
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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
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Leineweber, Kirsten, Frey, Ulrich H., Tenderich, Gero, Toliat, Mohammad Reza, Zittermann, Armin, Nuernberg, Peter, Koerfer, Reiner, Siffert, Winfried and Heusch, Gerd (2010). The Arg16Gly-beta(2)-adrenoceptor single nucleotide polymorphism: exercise capacity and survival in patients with end-stage heart failure. Naunyn-Schmiedebergs Arch. Pharmacol., 382 (4). S. 357 - 366. NEW YORK: SPRINGER. ISSN 1432-1912
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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
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Atypical Aicardi-Goutieres Syndrome: Is the WRN Locus a Modifier?
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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
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ORCID: 0000-0003-4681-7844, Lessel, Ivana, Alwasiyah, Mohammad K., Saha, Bidisha, Hisama, Fuki M.
ORCID: 0000-0001-7772-7855, Rading, Katrin, Goebel, Ingrid, Schuetz, Petra, Speit, Guenter, Hoegel, Josef, Thiele, Holger, Nuernberg, Gudrun, Nuernberg, Peter, Hammerschmidt, Matthias, Zhu, Yan, Tong, David R., Katz, Chen, Martin, George M., Oshima, Junko, Prives, Carol and Kubisch, Christian
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ORCID: 0000-0003-2651-8791, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander
ORCID: 0000-0002-8309-094X, Huffman, Jennifer E., Tromp, Gerard
ORCID: 0000-0002-7761-0806, Fuchsberger, Christian, Gorski, Mathias, Lyytikainen, Leo-Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S., Arking, Dan E., Bihlmeyer, Nathan A., Boeger, Carsten A., Carroll, Robert J., Chasman, Daniel I., Comelis, Marilyn C., Dehghan, Abbas, Faul, Jessica D., Feitosa, Mary F., Gambaro, Giovanni, Gasparini, Paolo
ORCID: 0000-0002-0859-0856, Giulianini, Franco, Heid, Iris, Huang, Jinyan, Imboden, Medea, Jackson, Anne U., Jeff, Janina, Jhun, Min A., Katz, Ronit, Kifley, Annette, Kilpelainen, Tuomas
ORCID: 0000-0002-8349-3028, Kumar, Ashish, Laakso, Markku, Li-Gao, Ruifang
ORCID: 0000-0003-0650-1351, Lohman, Kurt, Lu, Yingchang, Maegi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L., Mook-Kanamori, Dennis O., Robino, Antonietta
ORCID: 0000-0003-2152-2353, Ruderfer, Douglas, Salvi, Erika
ORCID: 0000-0002-2724-2291, Schick, Ursula M., Schulz, Christina-Alexandra, Smith, Albert V., Smith, Jennifer A., Traglia, Michela, Yerges-Armstrong, Laura M., Zhao, Wei, Goodarzi, Mark O., Kraja, Aldi T., Liu, Chunyu, Wessel, Jennifer
ORCID: 0000-0002-7031-0085, Boerwinkle, Eric, Borecki, Ingrid B., Bork-Jensen, Jette, Bottinger, Erwin P., Braga, Daniele
ORCID: 0000-0003-2168-8425, Brandslund, Ivan
ORCID: 0000-0002-4203-5442, Brody, Jennifer A., Campbell, Archie, Carey, David J., Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C., Cusi, Daniele, de Boer, Ian H., de Vries, Aiko P. J., Denny, Joshua C., Devuyst, Olivier, Dreisbach, Albert W., Endlich, Karlhans
ORCID: 0000-0001-6052-6061, Esko, Tonu, Franco, Oscar H., Fulop, Tibor
ORCID: 0000-0002-3346-7040, Gerhard, Glenn S., Gluemer, Charlotte, Gottesman, Omri, Grarup, Niels
ORCID: 0000-0001-5526-1070, Gudnason, Vilmundur
ORCID: 0000-0001-5696-0084, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B., Husemoen, Lise Lotte N., Jackson, Rebecca D., Jorgensen, Torben
ORCID: 0000-0001-9453-2830, Jorgensen, Marit E., Kaehoenen, Mika, Kardia, Sharon L. R., Koenig, Wolfgang, Kooperberg, Charles, Kriebel, Jennifer
ORCID: 0000-0003-4270-018X, Launer, Lenore J., Lauritzen, Torsten, Lehtimaki, Terho, Levy, Daniel
ORCID: 0000-0003-1843-8724, Linksted, Pamela, Linneberg, Allan
ORCID: 0000-0002-0994-0184, Liu, Yongmei, Loos, Ruth J. F., Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andres, Mitchell, Paul, Nauck, Matthias, Nuernberg, Peter, Orho-Melander, Marju, Parsa, Afshin, Pedersen, Oluf
ORCID: 0000-0002-3321-3972, Peters, Annette
ORCID: 0000-0001-6645-0985, Peters, Ulrike, Polasek, Ozren
ORCID: 0000-0002-5765-1862, Porteous, David, Probst-Hensch, Nicole M., Psaty, Bruce M., Qi, Lu, Raitakari, Olli T., Reiner, Alex P., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando
ORCID: 0000-0001-9435-9441, Rossouw, Jacques E., Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela
ORCID: 0000-0001-9545-6032, Turner, Stephen T., Uitterlinden, Andre G., Ulivi, Sheila, Velayutham, Dinesh
ORCID: 0000-0002-9425-7266, Voelker, Uwe, Volzke, Henry, Waldenberger, Melanie
ORCID: 0000-0003-0583-5093, Wang, Jie Jin
ORCID: 0000-0001-9491-4898, Weir, David R., Witte, Daniel
ORCID: 0000-0002-0769-2922, Kuivaniemi, Helena
ORCID: 0000-0001-5753-8766, Fox, Caroline S., Franceschini, Nora, Goessling, Wolfram, Koettgen, Anna and Chu, Audrey Y.
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SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.
J. Am. Soc. Nephrol., 28 (3).
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WASHINGTON:
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Li, Melody, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Phillips, A. Marie, Petrovski, Slave, Hildebrand, Michael S., Burgess, Rosemary, Mount, Therese, Zara, Federico
ORCID: 0000-0001-9744-5222, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Schubert, Julian, Thiele, Holger, Nuernberg, Peter, Wong, Michael, Weisenberg, Judith L., Thio, Liu Lin
ORCID: 0000-0002-9779-7903, Lerche, Holger, Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven
ORCID: 0000-0002-4960-6375 and Reid, Christopher A.
(2018).
Gain-of-function HCN2 variants in genetic epilepsy.
Hum. Mutat., 39 (2).
S. 202 - 210.
HOBOKEN:
WILEY.
ISSN 1098-1004
Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Goekhan, Canan, Husniye, Pawlik, Barbara, Nuernberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda ORCID: 0000-0001-8472-5911, May, Klaus W., Nuernberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias and Wollnik, Bernd
(2010).
Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling.
Am. J. Hum. Genet., 87 (6).
S. 757 - 768.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Liao, David S., Grossi, Federico, V, El Mehdi, Delphine, Gerber, Monica R., Brown, David M., Heier, Jeffrey S., Wykoff, Charles C., Singerman, Lawrence J., Abraham, Prema, Grassmann, Felix ORCID: 0000-0003-1390-7528, Nuernberg, Peter, Weber, Bernhard H. F., Deschatelets, Pascal, Kim, Robert Y., Chung, Carol Y., Ribeiro, Ramiro M., Hamdani, Mohamed, Rosenfeld, Philip J., Boyer, David S., Slakter, Jason S. and Francois, Cedric G.
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Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration A Randomized Phase 2 Trial.
Ophthalmology, 127 (2).
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NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1549-4713
Linnekamp, Janneke F., van Hooff, Sander R., Prasetyanti, Pramudita R., Kandimalla, Raju ORCID: 0000-0002-0342-5229, Buikhuisen, Joyce Y., Fessler, Evelyn, Ramesh, Prashanthi, Lee, Kelly A. S. T., Bochove, Grehor G. W., de Jong, Johan H., Cameron, Kate, van Leersum, Ronald, Rodermond, Hans M., Franitza, Marek, Nuernberg, Peter, Mangiapane, Laura R., Wang, Xin, Clevers, Hans, Vermeulen, Louis, Stassi, Giorgio and Medema, Jan Paul
(2018).
Consensus molecular subtypes of colorectal cancer are recapitulated in in vitro and in vivo models.
Cell Death Differ., 25 (3).
S. 616 - 634.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5403
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
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The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
Brain.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Maaser, Anna, Forstner, Andreas J., Strohmaier, Jana, Hecker, Julian, Ludwig, Kerstin U., Sivalingam, Sugirthan, Streit, Fabian, Degenhardt, Franziska, Witt, Stephanie H., Reinbold, Celine S., Koller, Anna C., Raff, Ruth, Heilmann-Heimbach, Stefanie, Fischer, Sascha B., Herms, Stefan ORCID: 0000-0002-2786-8200, Hoffmann, Per, Thiele, Holger, Nuernberg, Peter, Fier, Heide Loehlein, Orozco-Diaz, Guillermo, Carmenate-Naranjo, Deinys, Proenza-Barzaga, Niurka, Auburger, Georg W. J., Andlauer, Till F. M., Cichon, Sven, Marcheco-Teruel, Beatriz, Mors, Ole, Rietschel, Marcella and Noethen, Markus M.
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Exome sequencing in large, multiplex bipolar disorder families from Cuba.
PLoS One, 13 (10).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Macheleidt, Iris F., Dalvi, Priya S., Lim, So-Young, Meemboor, Sonja, Meder, Lydia ORCID: 0000-0002-9547-5812, Kaesgen, Olivia, Mueller, Marion, Kleemann, Karolin, Wang, Lingyu, Nuernberg, Peter, Ruesseler, Vanessa, Schaefer, Stephan C., Mahabir, Esther, Buettner, Reinhard and Odenthal, Margarete
(2018).
Preclinical studies reveal that LSD1 inhibition results in tumor growth arrest in lung adenocarcinoma independently of driver mutations.
Mol. Oncol., 12 (11).
S. 1965 - 1980.
HOBOKEN:
WILEY.
ISSN 1878-0261
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
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
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
Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Gossmann, Yasmina, Helwing, Barbara, Niestroj, Lisa-Marie, Toliat, Mohammad Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein and Nothnagel, Michael ORCID: 0000-0001-8305-7114
(2017).
Distinct Human Genetic Variation in Iran.
Hum. Hered., 83 (5).
S. 241 - 242.
BASEL:
KARGER.
ISSN 1423-0062
Mehrjoo, Zohreh ORCID: 0000-0003-3296-6283, Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Ardalani, Fariba, Jalalvand, Khadijeh, Arzhangi, Sanaz, Mohammadi, Zahra, Khoshbakht, Shahrouz, Najafi, Farid, Nikuei, Pooneh, Haddadi, Mohammad, Zohrehvand, Elham, Oladnabi, Morteza, Mohammadzadeh, Akbar, Jafari, Mandana Hadi, Akhtarkhavari, Tara, Gooshki, Ehsan Shamsi, Haghdoost, Aliakbar, Najafipour, Reza, Niestroj, Lisa-Marie, Helwing, Barbara
ORCID: 0000-0001-9226-1053, Gossmann, Yasmina, Toliat, Mohammad Reza, Malekzadeh, Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein and Nothnagel, Michael
ORCID: 0000-0001-8305-7114
(2019).
Distinct genetic variation and heterogeneity of the Iranian population.
PLoS Genet., 15 (9).
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
Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Hoehne, Wolfgang, Noegel, Angelika Anna, Al-Owain, Mohammed, Hoertnagel, Konstanze, Stoebe, Petra, Baig, Shahid Mahmood, Nuernberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809
(2017).
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Ann. Neurol., 82 (4).
S. 562 - 578.
HOBOKEN:
WILEY.
ISSN 1531-8249
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
Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin ORCID: 0000-0001-9039-2615, Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima and Rochette, Jacques
(2014).
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Hum. Mutat., 35 (10).
S. 1221 - 1233.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1098-1004
Morin, Gilles, Bruechle, Nadina Ortiz, Singh, Amrathlal Rabbind, Knopp, Cordula, Jedraszak, Guillaume, Elbracht, Miriam, Bremond-Gignac, Dominique, Hartmann, Kathi, Sevestre, Henri, Deutz, Peter, Herent, Didier, Nuernberg, Peter, Romeo, Bernard, Konrad, Kerstin ORCID: 0000-0001-9039-2615, Mathieu-Dramard, Michele, Oldenburg, Johannes, Bourges-Petit, Elisabeth, Shen, Yuequan, Zerres, Klaus, Ouadid-Ahidouch, Halima and Rochette, Jacques
(2014).
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome (vol 35, pg 1221, 2014).
Hum. Mutat., 35 (12).
S. 1542 - 1543.
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ISSN 1098-1004
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Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.
Hum. Mutat., 35 (1).
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HOBOKEN:
WILEY.
ISSN 1098-1004
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
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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
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ORCID: 0000-0002-7247-282X, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric
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Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
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CHICAGO:
AMER MEDICAL ASSOC.
ISSN 2374-2445
Neitzel, Heidemarie, Varon, Raymonda, Chughtai, Sana, Dartsch, Josephine, Dutrannoy-Toensing, Veronique, Nuernberg, Peter, Nuernberg, Gudrun, Schweiger, Michal, Digweed, Martin, Hildebrand, Gabriele, Hackmann, Karl, Holtgrewe, Manuel, Sarioglu, Nanette, Schulze, Bernt, Horn, Denise and Sperling, Karl (2022). Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4. Hum. Genet., 141 (11). S. 1785 - 1795. NEW YORK: SPRINGER. ISSN 1432-1203
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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).
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BASEL:
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ISSN 1661-8777
Ng, Michael, Thakkar, Dipti, Southam, Lorraine, Werker, Paul, Ophoff, Roel, Becker, Kerstin, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Franke, Andre
ORCID: 0000-0003-1530-5811, Nuernberg, Peter, Espirito-Santo, Ana Isabel, Izadi, David, Hennies, Hans Christian, Nanchahal, Jagdeep, Zeggini, Eleftheria and Furniss, Dominic
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A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.
Am. J. Hum. Genet., 101 (3).
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CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Niestroj, Lisa-Marie, Du, Juanjiangmeng, Nothnagel, Michael ORCID: 0000-0001-8305-7114, May, Patrick
ORCID: 0000-0001-8698-3770, Palotie, Aarno, Daly, Mark J., Nuernberg, Peter, Bluemcke, Ingmar and Lal, Dennis
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Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.
Epilepsia, 59 (11).
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WILEY.
ISSN 1528-1167
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
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Assessment of genetic variant burden in epilepsy-associated brain lesions.
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LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
Niestroj, Lisa-Marie, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Howrigan, Daniel P., Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo
ORCID: 0000-0002-8475-7187, Nuernberg, Peter, Stevelink, Remi, Daly, Mark J., Palotie, Aarno and Lal, Dennis
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Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.
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OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M., Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske ORCID: 0000-0002-7146-617X, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale
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ORCID: 0000-0001-9938-7126, May, Patrick
ORCID: 0000-0001-8698-3770, Becker, Felicitas, Balling, Rudi
ORCID: 0000-0003-2902-5650, Biskup, Saskia, Haas, Stefan A., Nuernberg, Peter, van Gassen, Koen L. I., Lerche, Holger, Zara, Federico
ORCID: 0000-0001-9744-5222, Maljevic, Snezana
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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
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OXFORD UNIV PRESS.
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ORCID: 0000-0001-7360-6060, Burgoyne, Tom, Al Turki, Saeed, Hurles, Matthew E., Koehler, Gabriele, Schroeder, Josef, Nuernberg, Gudrun, Nuernberg, Peter, Chung, Eddie M. K., Reinhardt, Richard
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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry.
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ORCID: 0000-0002-0724-6703, Meder, Lydia
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Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors.
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AMER ASSOC CANCER RESEARCH.
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ORCID: 0000-0003-1772-7161, Lewis, Richard A., Katsanis, Nicholas
ORCID: 0000-0002-2480-0171, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Monica Bettencourt, Zhang, Xinmin, Cavalcoli, James D., Nuernberg, Gudrun, Nuernberg, Peter, Pierce, Eric A., Jackson, Peter K., Antignac, Corinne, Saunier, Sophie
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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Nature Genet., 42 (10).
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NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
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
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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).
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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
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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.
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ORCID: 0000-0001-5090-8189, Brambilla, Elisabeth, Brambilla, Christian, Lantuejoul, Sylvie, Lorimier, Philippe, Schneider, Peter M.
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Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer.
Nature Genet., 44 (10).
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NEW YORK:
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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
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Copy number variants in lipid metabolism genes are associated with gallstones disease in men.
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OXFORD UNIV PRESS.
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Perlee, Desiree, de Vos, Alex F., Scicluna, Brendon P., Mancheno, Pablo, De la Rosa, Olga, Dalemans, Wilfried, Nuernberg, Peter, Lombardo, Eleuterio and Van der Poll, Tom (2019). Human Adipose-Derived Mesenchymal Stem Cells Modify Lung Immunity and Improve Antibacterial Defense in Pneumosepsis Caused by Klebsiella pneumoniae. Stem Cells Transl. Med., 8 (8). S. 785 - 797. HOBOKEN: WILEY. ISSN 2157-6580
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ELSEVIER SCIENCE INC.
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Rahner, Nils, Nuernberg, Gudrun, Finis, David, Nuernberg, Peter and Royer-Pokora, Brigitte (2016). A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. Ophthalmic Genet., 37 (3). S. 294 - 301. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094
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
Ramzan, Shafaq, Tennstedt, Stephanie ORCID: 0000-0001-9063-3087, Tariq, Muhammad
ORCID: 0000-0002-5334-403X, Khan, Sheraz
ORCID: 0000-0003-3207-4074, Ul Ayan, Hafiza Noor, Ali, Aamir, Munz, Matthias, Thiele, Holger, Korejo, Asad Aslam, Mughal, Abdul Razzaq, Jamal, Syed Zahid, Nuernberg, Peter, Baig, Shahid Mahmood, Erdmann, Jeanette
ORCID: 0000-0002-4486-6231 and Ahmad, Ilyas
(2021).
A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.
Genes, 12 (8).
BASEL:
MDPI.
ISSN 2073-4425
Rasool, Sajida, Baig, Jamshaid Mahmood, Moawia, Abubakar, Ahmad, Ilyas, Iqbal, Maria, Waseem, Syeda Seema, Asif, Maria, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Kaygusuz, Emrah, Zakaria, Muhammad, Ramzan, Shafaq, ul Haque, Saif, Mir, Asif, Anjum, Iram ORCID: 0000-0002-9015-3179, Fiaz, Mehak, Ali, Zafar, Tariq, Muhammad, Saba, Neelam, Hussain, Wajid, Budde, Birgit, Irshad, Saba, Noegel, Angelika Anna, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid
(2020).
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Mol. Genet. Genom. Med., 8 (9).
HOBOKEN:
WILEY.
ISSN 2324-9269
Rasool, Sajida, Irshad, Saba, Saba, Neelam, Fiaz, Mehak, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Hussain, Muhammad Wajid and Nuernberg, Peter
(2020).
A Novel Homozygous Nonsense Variant in BICD2 Underlies Hereditary Spastic Paraplegia Complex Type.
Pak. J. Zool., 52 (2).
S. 727 - 733.
LAHORE:
ZOOLOGICAL SOC PAKISTAN.
ISSN 0030-9923
Reichwagen, Annegret, Ziepert, Marita, Kreuz, Markus ORCID: 0000-0002-0520-8391, Goedtel-Armbrust, Ute, Rixecker, Tanja, Poeschel, Viola, Toliat, Mohammad Reza, Nuernberg, Peter, Tzvetkov, Mladen, Deng, Shiwei, Truemper, Lorenz, Hasenfuss, Gerd, Pfreundschuh, Michael and Wojnowski, Leszek
(2015).
Association of NADPH oxidase polymorphisms with anthracycline-induced cardiotoxicity in the RICOVER-60 trial of patients with aggressive CD20(+) B-cell lymphoma.
Pharmacogenomics, 16 (4).
S. 361 - 373.
LONDON:
FUTURE MEDICINE LTD.
ISSN 1744-8042
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.
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WILEY-BLACKWELL.
ISSN 1528-1167
Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan ORCID: 0000-0002-2786-8200, Gieger, Christian
ORCID: 0000-0001-6986-9554, Waldenberger, Melanie
ORCID: 0000-0003-0583-5093, Franke, Andre
ORCID: 0000-0003-1530-5811, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Maennik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nuernberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz
ORCID: 0000-0002-6998-5480 and Neubauer, Bernd A.
(2014).
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Hum. Mol. Genet., 23 (22).
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OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Riessland, Markus ORCID: 0000-0003-2592-5045, Kaczmarek, Anna, Schneider, Svenja, Swoboda, Kathryn J., Loehr, Heiko, Bradler, Cathleen, Grysko, Vanessa, Dimitriadi, Maria, Hosseinibarkooie, Seyyedmohsen, Torres-Benito, Laura, Peters, Miriam, Upadhyay, Aaradhita, Biglari, Nasim, Kroeber, Sandra, Hoelker, Irmgard, Garbes, Lutz, Gilissen, Christian
ORCID: 0000-0003-1693-9699, Hoischen, Alexander
ORCID: 0000-0002-8072-4476, Nuernberg, Gudrun, Nuernberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong
ORCID: 0000-0002-1323-7256, Hart, Anne C., Hammerschmidt, Matthias, Kloppenburg, Peter and Wirth, Brunhilde
ORCID: 0000-0003-4051-5191
(2017).
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Am. J. Hum. Genet., 100 (2).
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CELL PRESS.
ISSN 1537-6605
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).
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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.
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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).
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BERLIN:
NATURE PORTFOLIO.
ISSN 1546-1718
Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd ORCID: 0000-0002-6555-8174, Thiele, Holger, Nuernberg, Peter, Hoehne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette and Hennekam, Raoul C.
(2015).
A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome.
Am. J. Hum. Genet., 96 (2).
S. 275 - 283.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd ORCID: 0000-0002-6555-8174, Thiele, Holger, Nuernberg, Peter, Hoehne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette and Hennekam, Raoul C.
(2015).
A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome.
Am. J. Hum. Genet., 96 (2).
S. 275 - 283.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
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.
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BMC.
ISSN 1471-2164
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).
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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).
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LONDON:
SPRINGERNATURE.
ISSN 1476-5438
Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan
ORCID: 0000-0001-9574-7841, Nuernberg, Gudrun, Nuernberg, Peter, Kuhn, Joachim and Ozkinay, Ferda
(2014).
The missing link: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Hum. Genet., 133 (1).
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NEW YORK:
SPRINGER.
ISSN 1432-1203
Schubert, Julian, Siekierska, Aleksandra ORCID: 0000-0003-4907-605X, Langlois, Melanie, May, Patrick
ORCID: 0000-0001-8698-3770, Huneau, Clement, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid
ORCID: 0000-0003-0328-198X, Lemke, Johannes R., de Kovel, Carolien G. F., Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R., Sander, Thomas, Rueschendorf, Franz, Caliebe, Almuth
ORCID: 0000-0003-2157-425X, Nagel, Inga, Kohl, Bernard, Kecskes, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H., Baulac, Stephanie
ORCID: 0000-0001-6430-4693, Moller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., Jurkat-Rott, Karin, Lehman-Horn, Frank, Roach, Jared C., Glusman, Gustavo
ORCID: 0000-0001-8060-5955, Hood, Leroy, Galas, David J., Martin, Benoit, de Witte, Peter A. M., Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Balling, Rudi
ORCID: 0000-0003-2902-5650, Nuernberg, Peter, Crawford, Alexander D., Esguerra, Camila V., Weber, Yvonne G. and Lerche, Holger
(2014).
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Nature Genet., 46 (12).
S. 1327 - 1333.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Schwarm, Christian, Gola, Damian, Holtsche, Maike M., Dieterich, Anabelle, Bhandari, Anita, Freitag, Miriam, Nuernberg, Peter, Toliat, Mohammad, Lieb, Wolfgang, Wittig, Michael, Franke, Andre ORCID: 0000-0003-1530-5811, Worm, Margitta, Sticherling, Michael, Ehrchen, Jan, Guenther, Claudia, Glaeser, Regine, Peitsch, Wiebke K., Sardy, Miklos, Eming, Ruediger, Hertl, Michael, Benoit, Sandrine, Goebeler, Matthias, Pfoehler, Claudia, Kunz, Manfred, Kreuter, Alexander
ORCID: 0000-0003-2275-499X, van Beek, Nina, Erdmann, Jeanette
ORCID: 0000-0002-4486-6231, Busch, Hauke, Zillikens, Detlef, Sadik, Christian D., Hirose, Misa, Koenig, Inke R., Schmidt, Enno and Ibrahim, Saleh M.
(2021).
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and-DRB1*07:01, in Germans.
Orphanet J. Rare Dis., 16 (1).
LONDON:
BMC.
ISSN 1750-1172
Scicluna, Brendon P., Klouwenberg, Peter M. C. Klein, van Vught, Lonneke A., Wiewel, Maryse A., Ong, David S. Y., Zwinderman, Aeilko H., Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Hoogendijk, Arie J., Horn, Janneke, Cremer, Olaf L., Schultz, Marcus J., Bonten, Marc J. and van der Poll, Tom (2015). A Molecular Biomarker to Diagnose Community-acquired Pneumonia on Intensive Care Unit Admission. Am. J. Respir. Crit. Care Med., 192 (7). S. 826 - 836. NEW YORK: AMER THORACIC SOC. ISSN 1535-4970
Scicluna, Brendon P., Uhel, Fabrice, van Vught, Lonneke A., Wiewel, Maryse A., Hoogendijk, Arie J., Baessman, Ingelore, Franitza, Marek, Nuernberg, Peter, Horn, Janneke, Cremer, Olaf L., Bonten, Marc J., Schultz, Marcus J. and van der Poll, Tom (2020). The leukocyte non-coding RNA landscape in critically ill patients with sepsis. eLife, 9. CAMBRIDGE: ELIFE SCIENCES PUBLICATIONS LTD. ISSN 2050-084X
Scicluna, Brendon P., Wiewel, Maryse A., van Vught, Lonneke A., Hoogendijk, Arie J., Klarenbeek, Augustijn M., Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Horn, Janneke, Bonten, Marc J., Schultz, Marcus J., Cremer, Olaf L. and van der Poll, Tom (2018). Molecular Biomarker to Assist in Diagnosing Abdominal Sepsis upon ICU Admission. Am. J. Respir. Crit. Care Med., 197 (8). S. 1070 - 1074. NEW YORK: AMER THORACIC SOC. ISSN 1535-4970
Seeman, Tomas, Seemanova, Eva, Nuernberg, Gudrun, Nuernberg, Peter, Janssen, Sabine and Otto, Edgar A. (2010). Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. Pediatr. Nephrol., 25 (11). S. 2375 - 2377. NEW YORK: SPRINGER. ISSN 0931-041X
Seifert, Wenke, Posor, York, Schu, Peter, Stenbeck, Gudrun, Mundlos, Stefan, Klaassen, Sabine, Nuernberg, Peter, Haucke, Volker, Kornak, Uwe and Kuehnisch, Jirko (2016). The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Hum. Mol. Genet., 25 (17). S. 3836 - 3849. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083
Smolonska, Joanna, Koppelman, Gerard H., Wijmenga, Cisca ORCID: 0000-0002-5635-1614, Vonk, Judith M., Zanen, Pieter, Bruinenberg, Marcel, Curjuric, Ivan, Imboden, Medea, Thun, Gian-Andri, Franke, Lude
ORCID: 0000-0002-5159-8802, Probst-Hensch, Nicole M., Nuernberg, Peter, Riemersma, Roland A., van Schayck, Constant P., Loth, Daan W., Brusselle, Guy G., Stricker, Bruno H., Hofman, Albert, Uitterlinden, Andre G., Lahousse, Lies
ORCID: 0000-0002-3494-4363, London, Stephanie J., Loehr, Laura R., Manichaikul, Ani, Barr, R. Graham, Donohue, Kathleen M., Rich, Stephen S., Pare, Peter, Bosse, Yohan, Hao, Ke, van den Berge, Maarten
ORCID: 0000-0002-9336-7340, Groen, Harry J. M., Lammers, Jan-Willem J., Mali, Willem, Boezen, H. Marike and Postma, Dirkje S.
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Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis.
Eur. Resp. J., 44 (4).
S. 860 - 873.
SHEFFIELD:
EUROPEAN RESPIRATORY SOC JOURNALS LTD.
ISSN 1399-3003
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).
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HOBOKEN:
WILEY-BLACKWELL.
ISSN 1097-0215
Sprute, Rosanne, Jergas, Hannah, Oelmez, Akguen, Alawbathani, Salem, Karasoy, Hatice, Dafsari, Hormos Salimi, Becker, Kerstin, Daimagueeler, Huelya-Sevcan, Nuernberg, Peter, Muntoni, Francesco, Topaloglu, Haluk, Uyanik, Goekhan and Cirak, Sebahattin . Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. Am. J. Med. Genet. A. HOBOKEN: WILEY. ISSN 1552-4833
Steffens, Michael ORCID: 0000-0002-6445-8593, Leu, Costin
ORCID: 0000-0003-0598-3301, Ruppert, Ann-Kathrin, Zara, Federico
ORCID: 0000-0001-9744-5222, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio
ORCID: 0000-0001-7384-3074, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G. F., Trenite, Dorothee Kasteleijn-Nolst, de Haan, Gerrit-Jan
ORCID: 0000-0003-2373-9863, Lindhout, Dick
ORCID: 0000-0001-9580-624X, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefuss-Lie, Ailing A., Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Surges, Rainer
ORCID: 0000-0002-3177-8582, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Stephani, Ulrich, Moller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah
ORCID: 0000-0003-1949-8489, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo
ORCID: 0000-0002-7272-7079, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie
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ISSN 1460-2083
Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana
ORCID: 0000-0001-8939-1447, Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih
ORCID: 0000-0002-5777-7262, Bilguvar, Kaya, Hamed, Sherifa
ORCID: 0000-0002-1441-3530, Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele
ORCID: 0000-0003-4788-9719, Zara, Federico
ORCID: 0000-0001-9744-5222, Salpietro, Vincenzo, Scala, Marcello
ORCID: 0000-0003-2194-7239, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kuepper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Jr., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger
ORCID: 0000-0001-7774-5025, Nuernberg, Peter, Nuernberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaeser, Dieter, Huettel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita
ORCID: 0000-0002-9841-170X, Houlden, Henry, Bartesaghi, Luca
ORCID: 0000-0001-8218-4648, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark
ORCID: 0000-0003-1985-3671 and Senderek, Jan
(2021).
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain, 144.
S. 1422 - 1435.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Yigit, Goekhan, Brown, Karen E., Kayserili, Hulya ORCID: 0000-0003-0376-499X, Pohl, Esther, Caliebe, Almuth
ORCID: 0000-0003-2157-425X, Zahnleiter, Diana, Rosser, Elisabeth, Boegershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nuernberg, Gudrun, Nuernberg, Peter, Rauch, Anita
ORCID: 0000-0003-2930-3163, Li, Yun, Thiel, Christian Thomas and Wollnik, Bernd
(2015).
Mutations in CDK5RAP2 cause Seckel syndrome.
Mol. Genet. Genom. Med., 3 (5).
S. 467 - 481.
HOBOKEN:
WILEY.
ISSN 2324-9269
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
Young, Natalie, Asif, Maria, Jackson, Matthew, Martin Fernandez-Mayoralas, Daniel, Jimenez de la Pena, Mar, Calleja-Perez, Beatriz, Alvarez, Sara, Hunter-Featherstone, Eve, Noegel, Angelika A., Hohne, Wolfgang, Nuernberg, Peter, Obara, Boguslaw ORCID: 0000-0003-4084-7778, Hussain, Muhammad Sajid, Karakesisoglou, Iakowos and Fernandez-Jaen, Alberto
(2021).
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.
Genes, 12 (9).
BASEL:
MDPI.
ISSN 2073-4425
Zaki, Maha ORCID: 0000-0001-7840-0002, Thoenes, Michaela, Kawalia, Amit, Nuernberg, Peter, Kaiser, Rolf, Heller, Raoul and Bolz, Hanno J.
(2017).
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.
Front. Genet., 8.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 1664-8021
Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth ORCID: 0000-0001-9083-2916, Swan, Daniel
ORCID: 0000-0001-8978-8129, Fateen, Ekram
ORCID: 0000-0002-0777-0417, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline
ORCID: 0000-0002-8265-3763 and Bolz, Hanno J.
(2016).
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum. Mutat., 37 (2).
S. 170 - 175.
HOBOKEN:
WILEY.
ISSN 1098-1004
Zhang, Rong, Thiele, Holger, Bartmann, Peter, Hilger, Alina C., Berg, Christoph, Herberg, Ulrike, Klingmueller, Dietrich, Nuernberg, Peter, Ludwig, Michael and Reutter, Heiko (2016). Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. Twin Res. Hum. Genet., 19 (1). S. 60 - 66. NEW YORK: CAMBRIDGE UNIV PRESS. ISSN 1839-2628
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 Vught, Lonneke A., Scicluna, Brendon P., Wiewel, Maryse A., Hoogendijk, Arie J., Klouwenberg, Peter M. C. Klein, Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Cremer, Olaf L., Horn, Janneke, Schultz, Marcus J., Bonten, Marc M. J. and van der Poll, Tom (2016). Comparative Analysis of the Host Response to Community-acquired and Hospital-acquired Pneumonia in Critically Ill Patients. Am. J. Respir. Crit. Care Med., 194 (11). S. 1366 - 1375. NEW YORK: AMER THORACIC SOC. ISSN 1535-4970
van Vught, Lonneke A., Scicluna, Brendon P., Wiewel, Maryse A., Hoogendijk, Arie J., Klouwenberg, Peter M. C. Klein, Ong, David S. Y., Cremer, Olaf L., Horn, Janneke, Franitza, Marek, Toliat, Mohammad R., Nuernberg, Peter, Bonten, Marc M. J., Schultz, Marcus J. and van der Poll, Tom (2017). Association of Gender With Outcome and Host Response in Critically Ill Sepsis Patients. Crit. Care Med., 45 (11). S. 1854 - 1863. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1530-0293
von Ameln, Simon ORCID: 0000-0002-2242-3165, Wang, Geng, Boulouiz, Redouane, Rutherford, Mark A., Smith, Geoffrey M., Li, Yun, Pogoda, Hans-Martin, Nuernberg, Gudrun, Stiller, Barbara, Volk, Alexander E., Borck, Guntram, Hong, Jason S., Goodyear, Richard J., Abidi, Omar, Nuernberg, Peter, Hofmann, Kay, Richardson, Gu Y. P., Hammerschmidt, Matthias, Moser, Tobias
ORCID: 0000-0001-7145-0533, Wollnik, Bernd, Koehler, Carla M., Teitell, Michael A., Barakat, Abdelhamid and Kubisch, Christian
ORCID: 0000-0003-4220-0978
(2012).
A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss.
Am. J. Hum. Genet., 91 (5).
S. 919 - 928.
CAMBRIDGE:
CELL PRESS.
ISSN 0002-9297