Universität zu Köln

Journal Article

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, Farooq, Nasir, Abdul ORCID: 0000-0002-2339-3500, Thiele, Holger, Umair, Muhammad, Borck, Guntram and Ahmad, Wasim (2018). A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. Ann. Hum. Genet., 82 (4). S. 232 - 239. HOBOKEN: WILEY. ISSN 1469-1809

Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I. C., Feichtinger, Rene G., Delon, Isabelle, Pagnamenta, Alistair T., Dolling, Helen, Lemonde, Hugh, Aiton, Neil ORCID: 0000-0001-9762-1169, Bjornstad, Alf, Henneke, Lisa, Gaertner, Jutta, Thiele, Holger, Tauchmannova, Katerina ORCID: 0000-0002-3745-8790, Quaghebeur, Gerardine, Houstek, Josef ORCID: 0000-0002-8413-4772, Sperl, Wolfgang, Raymond, F. Lucy, Prokisch, Holger, Mayr, Johannes A., McFarland, Robert ORCID: 0000-0002-8833-2688, Poulton, Joanna ORCID: 0000-0002-2460-5587, Ryan, Michael T., Wittig, Ilka, Henneke, Marco and Taylor, Robert W. (2018). Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. Am. J. Hum. Genet., 103 (4). S. 592 - 602. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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

Baessler, Bettina ORCID: 0000-0002-3244-3864, Luecke, Christian, Lorz, Julia, Klingel, Karin, von Roeder, Maximilian, de Waha, Suzanne, Besler, Christian, Maintz, David, Gutberlet, Matthias, Thiele, Holger and Lurz, Philipp (2018). Cardiac MRI Texture Analysis of T1 and T2 Maps in Patients with Infarctlike Acute Myocarditis. Radiology, 289 (2). S. 357 - 366. OAK BROOK: RADIOLOGICAL SOC NORTH AMERICA. ISSN 0033-8419

Balogh, Eszter ORCID: 0000-0003-2813-4759, Chandler, Jennifer C. ORCID: 0000-0001-9785-4528, Varga, Mate ORCID: 0000-0003-4289-1705, Tahoun, Mona, Menyhard, Dora K., Schay, Gusztav, Goncalves, Tomas ORCID: 0000-0002-3342-0461, Hamar, Renata, Legradi, Regina ORCID: 0000-0002-5634-4000, Szekeres, Akos, Gribouval, Olivier, Kleta, Robert, Stanescu, Horia, Bockenhauer, Detlef, Kerti, Andrea, Williams, Hywel, Kinsler, Veronica, Di, Wei-Li, Curtis, David, Kolatsi-Joannou, Maria, Hammid, Hafsa, Szocs, Anna, Perczel, Kristof, Maka, Erika, Toldi, Gergely, Sava, Florentina, Arrondel, Christelle, Kardos, Magdolna, Fintha, Attila, Hossain, Ahmed, D'Arco, Felipe, Kaliakatsos, Mario, Koeglmeier, Jutta, Mifsud, William, Moosajee, Mariya, Faro, Ana, Javorszky, Eszter, Rudas, Gabor, Saied, Marwa H., Marzouk, Salah, Kelen, Kata, Gotze, Judit, Reusz, George, Tulassay, Tivadar, Dragon, Francois, Mollet, Geraldine, Motameny, Susanne, Thiele, Holger ORCID: 0000-0002-0169-998X, Dorval, Guillaume ORCID: 0000-0003-3883-1398, Nurnberg, Peter, Perczel, Andras, Szabo, Attila J., Long, David A., Tomita, Kazunori, Antignac, Corinne, Waters, Aoife M. and Tory, Kalman (2020). Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc. Natl. Acad. Sci. U. S. A., 117 (26). S. 15137 - 15148. WASHINGTON: NATL ACAD SCIENCES. ISSN 0027-8424

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

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, 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

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

Bogs, Thomas, Zwink, Nadine, Chonitzki, Vera, Hoelscher, Alice, Boemers, Thomas M., Muensterer, Oliver ORCID: 0000-0003-2790-4395, Kurz, Ralf, Heydweiller, Andreas, Pauly, Marcus, Leutner, Andreas, Ure, Benno M., Lacher, Martin, Deffaa, Oliver Johannes, Thiele, Holger, Bagci, Soyhan ORCID: 0000-0003-1005-665X, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Schumacher, Johannes and Reutter, Heiko (2018). Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup. Eur. J. Pediatr. Surg., 28 (2). S. 176 - 183. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-359X

Borchert, Thomas, Huebscher, Daniela, Guessoum, Celina I., Lam, Tuan-Dinh D., Ghadri, Jelena R., Schellinger, Isabel N., Tiburcy, Malte, Liaw, Norman Y., Li, Yun, Haas, Jan, Sossalla, Samuel, Huber, Mia A., Cyganek, Lukas ORCID: 0000-0001-9120-1382, Jacobshagen, Claudius, Dressel, Ralf, Raaz, Uwe, Nikolaev, Viacheslav O., Guan, Kaomei ORCID: 0000-0002-0753-3083, Thiele, Holger, Meder, Benjamin, Wollnik, Bernd, Zimmermann, Wolfram-Hubertus, Luescher, Thomas F., Hasenfuss, Gerd, Templin, Christian and Streckfuss-Boemeke, Katrin (2017). Catecholamine-Dependent beta-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy. J. Am. Coll. Cardiol., 70 (8). S. 975 - 992. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-3597

Borck, Guntram, Hog, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara ORCID: 0000-0002-4139-0602, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmuller, Janine, Reymond, Alexandre, Nurnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno ORCID: 0000-0002-5031-1013, Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Cramer, Patrick and Kubisch, Christian ORCID: 0000-0003-4220-0978 (2015). BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome Res., 25 (2). S. 155 - 167. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1549-5469

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

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

Cammann, Victoria L., Sarcon, Annahita, Ding, Katharina J., Seifert, Burkhardt, Kato, Ken ORCID: 0000-0001-6993-5152, Di Vece, Davide, Szawan, Konrad A., Gili, Sebastiano, Jurisic, Stjepan, Bacchi, Beatrice, Micek, Jozef, Frangieh, Antonio H., Napp, L. Christian ORCID: 0000-0001-9945-0842, Jaguszewski, Milosz, Bossone, Eduardo ORCID: 0000-0003-2769-9950, Citro, Rodolfo, D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Franke, Jennifer, Noutsias, Michel, Knorr, Maike, Heiner, Susanne, Burgdorf, Christof, Koenig, Wolfgang, Thiele, Holger, Tschope, Carsten, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Banning, Adrian ORCID: 0000-0002-2842-7861, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Dworakowski, Rafal, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Dichtl, Wolfgang ORCID: 0000-0002-0421-2110, Delmas, Clement ORCID: 0000-0001-9180-9128, Lairez, Olivier, Horowitz, John D., Kozel, Martin, Widimsky, Petr, Tousek, Petr, Winchester, David E., Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, El-Battrawy, Ibrahim, Akin, Ibrahim, Ukena, Christian, Bauersachs, Johann, Pieske, Burkert M., Hasenfuss, Gerd, Rottbauer, Wolfgang, Braun-Dullaeus, Ruediger C., Opolski, Grzegorz, MacCarthy, Philip, Felix, Stephan B., Borggrefe, Martin, Di Mario, Carlo, Crea, Filippo, Katus, Hugo A., Schunkert, Heribert, Munzel, Thomas, Bohm, Michael, Bax, Jeroen J., Prasad, Abhiram, Shinbane, Jerold, Luscher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R. and Templin, Christian (2019). Clinical Features and Outcomes of Patients With Malignancy and Takotsubo Syndrome: Observations From the International Takotsubo Registry. J. Am. Heart Assoc., 8 (15). HOBOKEN: WILEY. ISSN 2047-9980

Cammann, Victoria L., Szawan, Konrad A., Stahli, Barbara E., Kato, Ken, Budnik, Monika, Wischnewsky, Manfred, Dreiding, Sara, Levinson, Rena A., Di Vece, Davide, Gili, Sebastiano, Citro, Rodolfo, Bossone, Eduardo, Neuhaus, Michael, Franke, Jennifer, Meder, Benjamin, Jaguszewski, Milosz, Noutsias, Michel, Knorr, Maike, Heiner, Susanne, D'Ascenzo, Fabrizio, Dichtl, Wolfgang, Burgdorf, Christof, Kherad, Behrouz, Tschope, Carsten, Sarcon, Annahita, Shinbane, Jerold, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Koenig, Wolfgang, Pott, Alexander, Meyer, Philippe, Roffi, Marco, Banning, Adrian, Wolfrum, Mathias, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Napp, L. Christian ORCID: 0000-0001-9945-0842, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Chan, Christina, Bridgman, Paul, Beug, Daniel, Delmas, Clement, Lairez, Olivier, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, El-Battrawy, Ibrahim, Akin, Ibrahim, Polednikova, Karolina, Tous, Petr, Winchester, David E., Galuszka, Jan, Ukena, Christian, Poglajen, Gregor, Carrilho-Ferreira, Pedro, Hauck, Christian, Paolini, Carla, Bilato, Claudio ORCID: 0000-0003-3474-0579, Kobayashi, Yoshio, Shoji, Toshihiro, Ishibashi, Iwao, Takahara, Masayuki, Himi, Toshiharu, Din, Jehangir, Al-Shammari, Ali, Prasad, Abhiram, Rihal, Charanjit S., Liu, Kan, Schulze, P. Christian, Bianco, Matteo, Jorg, Lucas, Rickli, Hans, Pestana, Goncalo, Nguyen, Thanh H., Bohm, Michael, Maier, Lars S., Pinto, Fausto J., Widimsky, Petr, Felix, Stephan B., Braun-Dullaeus, Ruediger C., Rottbauer, Wolfgang, Hasenfuss, Gerd, Pieske, Burkert M., Schunkert, Heribert, Borggrefe, Martin, Thiele, Holger ORCID: 0000-0002-0169-998X, Bauersachs, Johann, Katus, Hugo A., Horowitz, John D., Di Mario, Carlo, Muenzel, Thomas ORCID: 0000-0001-5503-4150, Crea, Filippo, Bax, Jeroen J., Luscher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R., Opolski, Grzegorz and Templin, Christian (2020). Age -Related Variations in Takotsubo Syndrome. J. Am. Coll. Cardiol., 75 (16). S. 1869 - 1878. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-3597

Coelho, David ORCID: 0000-0001-7010-5789, Kim, Jaeseung C., Miousse, Isabelle R. ORCID: 0000-0001-6543-3219, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nuernberg, Peter, Thiele, Holger, Robenek, Horst, Hoehne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A., Majewski, Jacek, Rosenblatt, David S., Fowler, Brian, Rutsch, Frank and Baumgartner, Matthias R. (2012). Mutations in ABCD4 cause a new inborn error of vitamin B-12 metabolism. Nature Genet., 44 (10). S. 1152 - 1158. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1061-4036

D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Gili, Sebastiano, Bertaina, Maurizio ORCID: 0000-0001-5727-4107, Iannaccone, Mario ORCID: 0000-0003-0571-3918, Cammann, Victoria L., Di Vece, Davide, Kato, Ken, Saglietto, Andrea ORCID: 0000-0001-9475-1507, Szawan, Konrad A., Frangieh, Antonio H., Boffini, Beatrice, Annaratone, Margherita, Sarcon, Annahita, Levinson, Rena A., Franke, Jennifer, Napp, L. Christian ORCID: 0000-0001-9945-0842, Jaguszewski, Milosz, Noutsias, Michel, Muenzel, Thomas ORCID: 0000-0001-5503-4150, Knorr, Maike, Heiner, Susanne, Katus, Hugo A., Burgdorf, Christof, Schunkert, Heribert, Thiele, Holger ORCID: 0000-0002-0169-998X, Bauersachs, Johann, Tschoepe, Carsten, Pieske, Burkert M., Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Hasenfuss, Gerd, Karakas, Mahir, Koenig, Wolfgang, Rottbauer, Wolfgang, Said, Samir M., Braun-Dullaeus, Ruediger C., Banning, Adrian ORCID: 0000-0002-2842-7861, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Opolski, Grzegorz, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Crea, Filippo, Dichtl, Wolfgang, Franz, Wolfgang M., Empen, Klaus, Felix, Stephan B., Delmas, Clement, Lairez, Olivier, El-Battrawy, Ibrahim, Akin, Ibrahim, Borggrefe, Martin, Horowitz, John D., Kozel, Martin, Tousek, Petr, Widimsky, Petr, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Biondi-Zoccai, Giuseppe ORCID: 0000-0001-6103-8510, Winchester, David E., Ukena, Christian, Neuhaus, Michael, Bax, Jeroen J., Prasad, Abhiram, Di Mario, Carlo, Boehm, Michael, Gasparini, Mauro, Ruschitzka, Frank, Bossone, Eduardo, Citro, Rodolfo, Rinaldi, Mauro, De Ferrari, Gaetano Maria, Luscher, Thomas, Ghadri, Jelena R. and Templin, Christian (2020). Impact of aspirin on takotsubo syndrome: a propensity score-based analysis of the InterTAK Registry. Eur. J. Heart Fail., 22 (2). S. 330 - 338. HOBOKEN: WILEY. ISSN 1879-0844

Dafsari, Hormos Salimi, Kawalia, Amit, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Karakaya, Mert, Malenica, Anna, Herkenrath, Peter, Nuernberg, Peter, Motameny, Susanne, Thiele, Holger and Cirak, Sebahattin (2019). Novel mutations in SLC6A5 with benign course in hyperekplexia. Cold Spring Harb. Mol. Case Stud., 5 (6). COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 2373-2873

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

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

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

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

Forstner, Andreas J., Fischer, Sascha B., Schenk, Lorena M., Strohmaier, Jana ORCID: 0000-0002-4364-1487, Maaser-Hecker, Anna, Reinbold, Celine S., Sivalingam, Sugirthan ORCID: 0000-0001-5239-5137, Hecker, Julian, Streit, Fabian ORCID: 0000-0003-1080-4339, Degenhardt, Franziska, Witt, Stephanie H., Schumacher, Johannes, Thiele, Holger ORCID: 0000-0002-0169-998X, Nuernberg, Peter, Guzman-Parra, Jose ORCID: 0000-0002-1463-6435, Orozco Diaz, Guillermo, Auburger, Georg, Albus, Margot, Borrmann-Hassenbach, Margitta, Jose Gonzalez, Maria, Gil Flores, Susana, Cabaleiro Fabeiro, Francisco J., del Rio Noriega, Francisco, Perez Perez, Fermin, Haro Gonzalez, Jesus, Rivas, Fabio, Mayoral, Fermin, Bauer, Michael, Pfennig, Andrea, Reif, Andreas, Herms, Stefan, Hoffmann, Per, Pirooznia, Mehdi ORCID: 0000-0002-4210-6458, Goes, Fernando S., Rietschel, Marcella, Noethen, Markus M. and Cichon, Sven (2020). Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families. Transl. Psychiatr., 10 (1). LONDON: SPRINGERNATURE. ISSN 2158-3188

Ganapathi, Mythily ORCID: 0000-0003-2834-0843, Argyriou, Loukas, Martinez-Azorin, Francisco ORCID: 0000-0001-6250-7745, Morlot, Susanne, Yigit, Gokhan, Lee, Teresa M., Auber, Bernd, von Gise, Alexander, Petrey, Donald S., Thiele, Holger ORCID: 0000-0002-0169-998X, Cyganek, Lukas ORCID: 0000-0001-9120-1382, Sabater-Molina, Maria ORCID: 0000-0003-1352-1748, Ahimaz, Priyanka, Cabezas-Herrera, Juan, Sorli-Garcia, Moises, Zibat, Arne, Siegelin, Markus D., Burfeind, Peter, Buchovecky, Christie M., Hasenfuss, Gerd, Honig, Barry, Li, Yun, Iglesias, Alejandro D. and Wollnik, Bernd (2020). Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Hum. Genet., 139 (11). S. 1443 - 1455. NEW YORK: SPRINGER. ISSN 1432-1203

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

Ghadri, Jelena R., Cammann, Victoria L., Jurisic, Stjepan, Seifert, Burkhardt ORCID: 0000-0002-5829-2478, Napp, L. Christian ORCID: 0000-0001-9945-0842, Diekmann, Johanna, Bataiosu, Dana Roxana, D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Ding, Katharina J., Sarcon, Annahita, Kazemian, Elycia, Birri, Tanja, Ruschitzka, Frank, Luscher, Thomas F., Templin, Christian, Jaguszewski, Milosz ORCID: 0000-0002-2555-593X, Franke, Jennifer, Katus, Hugo A., Burgdorf, Christof, Schunkert, Heribert, Thiele, Holger, Bauersachs, Johann, Tschoepe, Carsten, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Ukena, Christian, Boehm, Michael, Erbel, Raimund, Cuneo, Alessandro, Jacobshagen, Claudius, Hasenfuss, Gerd, Karakas, Mahir, Koenig, Wolfgang, Rottbauer, Wolfgang, Said, Samir M., Braun-Dullaeus, Ruediger C., Cuculi, Florim, Banning, Adrian ORCID: 0000-0002-2842-7861, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Fijalkowski, Marcin, Rynkiewicz, Andrzej ORCID: 0000-0002-5284-9511, Opolski, Grzegorz, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Crea, Filippo, Dichtl, Wolfgang ORCID: 0000-0002-0421-2110, Franz, Wolfgang M., Empen, Klaus, Felix, Stephan B., Delmas, Clement ORCID: 0000-0001-9180-9128, Lairez, Olivier, Erne, Paul, Frantz, Stefan, Prasad, Abhiram and Bax, Jeroen J. (2017). A novel clinical score (InterTAK Diagnostic Score) to differentiate takotsubo syndrome from acute coronary syndrome: results from the International Takotsubo Registry. Eur. J. Heart Fail., 19 (8). S. 1036 - 1043. HOBOKEN: WILEY. ISSN 1879-0844

Ghadri, Jelena R., Kato, Ken ORCID: 0000-0001-6993-5152, Cammann, Victoria L., Gili, Sebastiano, Jurisic, Stjepan, Di Vece, Davide, Candreva, Alessandro, Ding, Katharina J., Micek, Jozef, Szawan, Konrad A., Bacchi, Beatrice, Bianchi, Rahel, Levinson, Rena A., Wischnewsky, Manfred, Seifert, Burkhardt ORCID: 0000-0002-5829-2478, Schlossbauer, Susanne A., Citro, Rodolfo, Bossone, Eduardo, Muenzel, Thomas, Knorr, Maike, Heiner, Susanne, D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Franke, Jennifer, Sarcon, Annahita, Napp, L. Christian ORCID: 0000-0001-9945-0842, Jaguszewski, Milosz ORCID: 0000-0002-2555-593X, Noutsias, Michel, Katus, Hugo A., Burgdorf, Christof, Schunkert, Heribert, Thiele, Holger, Bauersachs, Johann, Tschoepe, Carsten, Pieske, Burkert M., Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Hasenfuss, Gerd, Karakas, Mahir, Koenig, Wolfgang, Rottbauer, Wolfgang, Said, Samir M., Braun-Dullaeus, Ruediger C., Banning, Adrian ORCID: 0000-0002-2842-7861, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Opolski, Grzegorz, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Crea, Filippo, Dichtl, Wolfgang ORCID: 0000-0002-0421-2110, Empen, Klaus, Felix, Stephan B., Delmas, Clement ORCID: 0000-0001-9180-9128, Lairez, Olivier, El-Battrawy, Ibrahim, Akin, Ibrahim, Borggrefe, Martin, Horowitz, John ORCID: 0000-0001-6883-0703, Kozel, Martin ORCID: 0000-0001-6355-6370, Tousek, Petr, Widimsky, Petr, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Winchester, David E., Ukena, Christian, Bax, Jeroen J., Prasad, Abhiram, Boehm, Michael, Luscher, Thomas F., Ruschitzka, Frank and Templin, Christian (2018). Long-Term Prognosis of Patients With Takotsubo Syndrome. J. Am. Coll. Cardiol., 72 (8). S. 874 - 883. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-3597

Ghadri, Jelena R., Sarcon, Annahita, Diekmann, Johanna, Bataiosu, Dana Roxana, Cammann, Victoria L., Jurisic, Stjepan, Napp, Lars Christian, Jaguszewski, Milosz ORCID: 0000-0002-2555-593X, Scherff, Frank, Brugger, Peter, Jancke, Lutz, Seifert, Burkhardt, Bax, Jeroen J., Ruschitzka, Frank, Luscher, Thomas F., Templin, Christian, Schwyzer, Moritz, Franke, Jennifer, Katus, Hugo A., Burgdorf, Christof, Schunkert, Heribert, Thiele, Holger, Bauersachs, Johann, Tschoepe, Carsten, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Ukena, Christian, Boehm, Michael, Erbel, Raimund, Cuneo, Alessandro, Kuck, Karl-Heinz, Jacobshagen, Claudius, Hasenfuss, Gerd, Karakas, Mahir, Koenig, Wolfgang, Rottbauer, Wolfgang, Said, Samir M., Braun-Dullaeus, Ruediger C., Cuculi, Florim, Banning, Adrian ORCID: 0000-0002-2842-7861, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Fijalkowski, Marcin, Rynkiewicz, Andrzej ORCID: 0000-0002-5284-9511, Opolski, Grzegorz, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Crea, Filippo, Dichtl, Wolfgang ORCID: 0000-0002-0421-2110, Franz, Wolfgang M., Empen, Klaus, Felix, Stephan B., Delmas, Clement ORCID: 0000-0001-9180-9128, Lairez, Olivier, Erne, Paul and Prasad, Abhiram (2016). Happy heart syndrome: role of positive emotional stress in takotsubo syndrome. Eur. Heart J., 37 (37). S. 2823 - 2830. OXFORD: OXFORD UNIV PRESS. ISSN 1522-9645

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

Gili, Sebastiano, Cammann, Victoria L., Schlossbauer, Susanne A., Kato, Ken ORCID: 0000-0001-6993-5152, D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Di Vece, Davide, Jurisic, Stjepan, Micek, Jozef, Obeid, Slayman, Bacchi, Beatrice, Szawan, Konrad A., Famos, Flurina, Sarcon, Annahita, Levinson, Rena, Ding, Katharina J., Seifert, Burkhardt, Lenoir, Olivia, Bossone, Eduardo ORCID: 0000-0003-2769-9950, Citro, Rodolfo, Franke, Jennifer, Napp, L. Christian ORCID: 0000-0001-9945-0842, Jaguszewski, Milosz, Noutsias, Michel, Muenzel, Thomas, Knorr, Maike, Heiner, Susanne, Katus, Hugo A., Burgdorf, Christof, Schunkert, Heribert, Thiele, Holger, Bauersachs, Johann, Tschoepe, Carsten, Pieske, Burkert M., Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Hasenfuss, Gerd, Karakas, Mahir, Koenig, Wolfgang, Rottbauer, Wolfgang, Said, Samir M., Braun-Dullaeus, Ruediger C., Banning, Adrian ORCID: 0000-0002-2842-7861, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Opolski, Grzegorz, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Crea, Filippo, Dichtl, Wolfgang ORCID: 0000-0002-0421-2110, Empen, Klaus, Felix, Stephan B., Delmas, Clement ORCID: 0000-0001-9180-9128, Lairez, Olivier, El-Battrawy, Ibrahim, Akin, Ibrahim, Borggrefe, Martin, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Horowitz, John D., Kozel, Martin, Tousek, Petr, Widimsky, Petr, Winchester, David E., Ukena, Christian, Gaita, Fiorenzo, Di Mario, Carlo, Wischnewsky, Manfred B., Bax, Jeroen J., Prasad, Abhiram, Boehm, Michael, Ruschitzka, Frank, Luescher, Thomas F., Ghadri, Jelena R. and Templin, Christian (2019). Cardiac arrest in takotsubo syndrome: results from the InterTAK Registry. Eur. Heart J., 40 (26). S. 2142 - 2152. OXFORD: OXFORD UNIV PRESS. ISSN 1522-9645

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

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

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

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

Hallmann, Kerstin, Kudin, Alexei P., Zsurka, Gabor ORCID: 0000-0002-6379-849X, Kornblum, Cornelia, Reimann, Jens, Stueve, Burkhard, Waltz, Stephan, Hattingen, Elke ORCID: 0000-0002-8392-9004, Thiele, Holger, Nuernberg, Peter, Rueb, Cornelia, Voos, Wolfgang, Kopatz, Jens, Neumann, Harald and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2016). Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain, 139. S. 338 - 346. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Hallmann, Kerstin, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Moskau-Hartmann, Susanna, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Korinthenberg, Rudolf ORCID: 0000-0002-4638-3460, Ruppert, Ann-Kathrin, Ozdemir, Ozkan, Weber, Yvonne, Becker, Felicitas, Lerche, Holger, Elger, Christian E., Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2014). A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology, 83 (23). S. 2183 - 2188. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Hardies, Katia, de Kovel, Carolien G. F., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Asselbergh, Bob ORCID: 0000-0003-2784-2470, Geuens, Thomas ORCID: 0000-0002-1764-6233, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick ORCID: 0000-0001-8698-3770, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Dana, Braun, Kees P. J., Lal, Dennis, Thiele, Holger, Schubert, Julian, Weber, Yvonne, van't Slot, Ruben, Nuernberg, Peter, Balling, Rudi ORCID: 0000-0003-2902-5650, Timmerman, Vincent ORCID: 0000-0002-2162-0933, Lerche, Holger, Maudsley, Stuart, Helbig, Ingo ORCID: 0000-0001-8486-0558, Suls, Arvid ORCID: 0000-0003-0328-198X, Koeleman, Bobby P. C. and De Jonghe, Peter (2015). Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain, 138. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

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

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

Hashmi, Jamil A., Fadhli, Fatima, Almatrafi, Ahmed, Afzal, Sibtain, Ramzan, Khushnooda, Thiele, Holger ORCID: 0000-0002-0169-998X, Nuernberg, Peter and Basit, Sulman ORCID: 0000-0003-4294-6825 (2020). Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family. Brain Dev., 42 (8). S. 587 - 594. AMSTERDAM: ELSEVIER. ISSN 1872-7131

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, Heimbach, Andre, Richters, Lisa Katharina, Kroeber, Sandra, Altmuller, Janine, Thiele, Holger, Nuernberg, Peter, Wappenschmidt, Barbara, Neidhardt, Guido, Rhiem, Kerstin, Schmutzler, Rita K. and Hahnen, Eric (2016). Next-generation sequencing in BRCA1/2-negative breast and ovarian cancer families. J. Clin. Oncol., 34 (15). ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

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

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

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, Wegener, Eike, Gilley, Jonathan, Angeletti, Carlo, Kurth, Ingo, Drenth, Joost P. H., Stadelmann, Christine ORCID: 0000-0003-1766-5458, Barrantes-Freer, Alonso, Brueck, Wolfgang, Thiele, Holger, Nuernberg, Peter, Gaertner, Jutta, Orsomando, Giuseppe ORCID: 0000-0001-6640-097X and Coleman, Michael P. (2019). Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. Exp. Neurol., 320. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1090-2430

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

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

Jurisic, Stjepan, Gili, Sebastiano, Cammann, Victoria L., Kato, Ken ORCID: 0000-0001-6993-5152, Szawan, Konrad A., D'Ascenzo, Fabrizio ORCID: 0000-0002-6646-9317, Jaguszewski, Milosz, Bossone, Eduardo, Citro, Rodolfo, Sarcon, Annahita, Napp, L. Christian ORCID: 0000-0001-9945-0842, Franke, Jennifer, Noutsias, Michel, Knorr, Maike, Heiner, Susanne, Burgdorf, Christof, Koenig, Wolfgang, Pott, Alexander, Kherad, Behrouz, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Meyer, Philippe, Arroja, Jose David, Banning, Adrian ORCID: 0000-0002-2842-7861, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Dworakowski, Rafal, Kaiser, Christoph, Osswald, Stefan ORCID: 0000-0002-9240-6731, Galiuto, Leonarda, Dichtl, Wolfgang, Chan, Christina, Bridgman, Paul, Beug, Daniel, Delmas, Clement, Lairez, Olivier, Kozel, Martin, Tousek, Petr, Winchester, David E., Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, El-Battrawy, Ibrahim, Akin, Ibrahim, Galuszka, Jan, Ukena, Christian, Poglajen, Gregor ORCID: 0000-0003-1777-8807, Paolini, Carla, Bilato, Claudio ORCID: 0000-0003-3474-0579, Carrilho-Ferreira, Pedro, Pinto, Fausto J., Opolski, Grzegorz, MacCarthy, Philip, Kobayashi, Yoshio, Prasad, Abhiram, Rihal, Charanjit S., Widimsky, Petr, Horowitz, John D., Di Mario, Carlo, Crea, Filippo, Tschope, Carsten, Pieske, Burkert M., Hasenfuss, Gerd, Rottbauer, Wolfgang, Braun-Dullaeus, Ruediger C., Felix, Stephan B., Borggrefe, Martin, Thiele, Holger, Bauersachs, Johann, Katus, Hugo A., Schunkert, Heribert, Muenzel, Thomas, Bohm, Michael, Bax, Jeroen J., Luscher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R. and Templin, Christian (2019). Clinical Predictors and Prognostic Impact of Recovery of Wall Motion Abnormalities in Takotsubo Syndrome: Results From the International Takotsubo Registry. J. Am. Heart Assoc., 8 (21). HOBOKEN: WILEY. ISSN 2047-9980

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

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

Karsak, Meliha, Glebov, Konstantin, Scheffold, Marina, Bajaj, Thomas, Kawalia, Amit, Karaca, Ilker, Rading, Sebastian, Kornhuber, Johannes, Peters, Oliver, Diez-Fairen, Monica ORCID: 0000-0003-1882-0309, Froelich, Lutz, Huell, Michael, Wiltfang, Jens ORCID: 0000-0003-1492-5330, Scherer, Martin, Riedel-Heller, Steffi, Schneider, Anja, Heneka, Michael T., Fliessbach, Klaus, Sharaf, Ahmed, Thiele, Holger, Lennarz, Martina, Jessen, Frank, Maier, Wolfgang, Kubisch, Christian, Ignatova, Zoya, Nuernberg, Peter, Pastor, Pau ORCID: 0000-0002-7493-8777, Walter, Jochen ORCID: 0000-0002-4678-2912 and Ramirez, Alfredo ORCID: 0000-0003-4991-763X (2020). A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. Hum. Mutat., 41 (1). S. 169 - 182. HOBOKEN: WILEY. ISSN 1098-1004

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, Mendoza-Ferreira, Natalia, Maroofian, Reza, Chelban, Viorica, Khalil, Youssef ORCID: 0000-0001-9025-3017, Mills, Philippa B., Boostani, Reza, Torbati, Paria Najarzadeh, Karimiani, Ehsan Ghayoor, Thiele, Holger ORCID: 0000-0002-0169-998X, Houlden, Henry, Wirth, Brunhilde and Karakaya, Mert (2020). Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism. Neuromusc. Disord., 30 (7). S. 583 - 590. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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

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

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

Kolvenbach, Caroline M., Frese, Sandra K., Dworschak, Gabriel C., Japp, Anna, Schmidt, Johanna M., Zaniew, Martin, Newman, William, Beaman, Glenda, Stuart, Helen, Woolf, Adrian S. ORCID: 0000-0001-5541-1358, Cervellione, Raimondo, Roesch, Wolfgang, Weber, Stefanie, Merz, Waldtraut, Hildebrandt, Friedhelm, Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Lanine, Berg, Christoph, Ludwig, Michael, Grote, Philipp, Renner, Heiko, Odermatt, Benjamin and Hilger, Alina C. (2018). MUTATIONS IN BNC2 LEAD TO AUTOSOMAL-DOMINANT LOWER URINARY TRACT OBSTRUCTION (LUTO). Pediatr. Nephrol., 33 (10). S. 1809 - 1811. NEW YORK: SPRINGER. ISSN 1432-198X

Korenke, Georg-Christoph, Eggert, Marlene, Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Steinlein, Ortrud K. (2016). Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia, 57 (3). S. E60 - 4. HOBOKEN: WILEY-BLACKWELL. ISSN 1528-1167

Kuck, Karl-Heinz, Bleiziffer, Sabine, Eggebrecht, Holger, Ensminger, Stephan, Frerker, Christian, Moellmann, Helge, Nef, Holger, Thiele, Holger ORCID: 0000-0002-0169-998X, Treede, Hendrik, Wimmer-Greinecker, Gerhard and Walther, Thomas (2020). Consensus paper of the German Cardiac Society (DGK) and the German Society for Thoracic and Cardiovascular Surgery (DGTHG) on transcatheter aortic valve implantation (TAVI) 2020. Z. Herz Thorax Gefasschir., 34 (3). S. 194 - 214. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1435-1277

Kudin, Alexei P., Baron, Gregor, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Hampel, Kevin G., Elger, Christian E., Grote, Alexander, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Nuernberg, Peter, Schulz, Herbert, Ruppert, Ann-Kathrin, Sander, Thomas, Cheng, Qing, Arner, Elias S. J., Schomburg, Lutz, Seeher, Sandra, Fradejas-Villar, Noelia, Schweizer, Ulrich ORCID: 0000-0003-1380-4780 and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2017). Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. Free Radic. Biol. Med., 106. S. 270 - 278. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1873-4596

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

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., Dejanovici, Borislav, May, Patrick ORCID: 0000-0001-8698-3770, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Gunter, Riesch, Erik, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Steinboeck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico ORCID: 0000-0001-9744-5222, Hahn, Andreas, Gormley, Padhraig ORCID: 0000-0002-8908-6968, Becker, Felicitas, Weber, Yvonne G., Cilio, Maria Roberta, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Krause, Roland ORCID: 0000-0001-9938-7126, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Lemke, Johannes R., Nuernberg, Peter, Sander, Thomas, Lerche, Holger and Neubauer, Bernd A. (2016). Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One, 11 (3). 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

Lal, Dennis, Steinbruecker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland ORCID: 0000-0001-9938-7126, Lehesjoki, Anna-Elina, Nuernberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo ORCID: 0000-0001-8486-0558, Becker, Albert J., Schoch, Susanne, Hansen, Joerg, Dorn, Thomas, Hohl, Christin, Luescher, Nicole, von Spiczak, Sarah and Lemke, Johannes R. (2015). Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Res., 115. S. 95 - 100. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-6844

Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schutz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline ORCID: 0000-0003-1272-0518, Heron, Delphine, Moller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nurnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik ORCID: 0000-0002-8387-2247, Stromme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J. V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh ORCID: 0000-0002-0658-3847, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle ORCID: 0000-0001-7310-6082, Richholt, Ryan, Koeleman, Bobby P. C., Sa, Joaquim, Mendonca, Carla ORCID: 0000-0001-9926-0598, de Kovel, Carolien G. F., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine ORCID: 0000-0001-9024-310X, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amelie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo ORCID: 0000-0001-8486-0558, Michaud, Jacques L., Laube, Bodo and Syrbe, Steffen (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology, 86 (23). S. 2171 - 2179. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Lessel, Davor ORCID: 0000-0003-4496-244X, Ozel, Ayse Bilge, Campbell, Susan E., Saadi, Abdelkrim, Arlt, Martin F., McSweeney, Keisha Melodi, Plaiasu, Vasilica, Szakszon, Katalin, Szollos, Anna, Rusu, Cristina, Rojas, Armando J., Lopez-Valdez, Jaime, Thiele, Holger, Nuernberg, Peter, Nickerson, Deborah A., Bamshad, Michael J., Li, Jun Z., Kubisch, Christian, Glover, Thomas W. and Gordon, Leslie B. (2018). Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum. Genet., 137 (11-12). S. 921 - 940. NEW YORK: SPRINGER. ISSN 1432-1203

Lessel, Davor ORCID: 0000-0003-4496-244X, Saha, Bidisha, Hisama, Fuki, Kaymakamzade, Bahar, Nurlu, Gulay, Gursoy-Oezdemir, Yasemin, Thiele, Holger, Nuernberg, Peter, Martin, George M., Kubisch, Christian ORCID: 0000-0003-4220-0978 and Oshima, Junko (2014). Atypical Aicardi-Goutieres Syndrome: Is the WRN Locus a Modifier? Am. J. Med. Genet. A, 164 (10). S. 2510 - 2514. HOBOKEN: WILEY-BLACKWELL. 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

Lessel, Davor ORCID: 0000-0003-4496-244X, Wu, Danyi, Trujillo, Carlos, Ramezani, Thomas 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 ORCID: 0000-0003-4220-0978 (2017). Dysfunction of the MDM2/p53 axis is linked to premature aging. J. Clin. Invest., 127 (10). S. 3598 - 3609. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Lessel, Ivana, Chen, Mei-Jan, Luettgen, Sabine, Arndt, Florian, Fuchs, Sigrid, Meien, Stefanie, Thiele, Holger ORCID: 0000-0002-0169-998X, Jones, Julie R., Shaw, Brandon R., Crossman, David K., Nuernberg, Peter, Korf, Bruce R., Kubisch, Christian and Lessel, Davor ORCID: 0000-0003-4496-244X (2020). Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. Hum. Genet., 139 (4). S. 483 - 499. NEW YORK: SPRINGER. ISSN 1432-1203

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

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

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. (2018). Exome sequencing in large, multiplex bipolar disorder families from Cuba. PLoS One, 13 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Malki, Liron, Sarig, Ofer, Cesarato, Nicole, Mohamad, Janan, Canter, Talia, Assaf, Sari, Pavlovsky, Mor, Vodo, Dan, Anis, Yossi, Bihari, Ofer, Malovitski, Kiril, Gat, Andrea, Thiele, Holger ORCID: 0000-0002-0169-998X, White, Bethany E. Perez, Samuelov, Liat, Nanda, Arti, Paller, Amy S., Betz, Regina C. and Sprecher, Eli (2020). Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. Genet. Med., 22 (7). S. 1227 - 1235. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

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

Mauri, Victor, Besler, Christian, Riebisch, Matthias, Al-Hammadi, Osamah, Ruf, Tobias, Gercek, Muhammed, Horn, Patrick, Grothusen, Christina, Mehr, Michael, Becher, Marc Ulrich, Mues, Christoph, Boeder, Niklas, Kreidel, Felix, Friedrichs, Kai, Westenfeld, Ralf, Braun, Daniel, Oeztuerk, Can, Baldus, Stephan, Rassaf, Tienush, Thiele, Holger, Nickenig, Georg, Hausleiter, Joerg, Moellmann, Helge, Kelm, Malte, Rudolph, Volker, von Bardeleben, Ralph-Stephan, Nef, Holger M., Luedike, Peter, Lurz, Philipp and Pfister, Roman (2020). German Multicenter Experience With a New Leaflet-Based Transcatheter Mitral Valve Repair System for Mitral Regurgitation. JACC-Cardiovasc. Interv., 13 (23). S. 2769 - 2779. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-7605

Mauri, Victor, Riebisch, Matthias, Ruf, Tobias, Gercek, Muhammed, Horn, Patrick, Grothusen, Christina, Mehr, Michael, Mues, Christoph, Boeder, Niklas, Kreidel, Felix, Friedrichs, Kai, Westenfeld, Ralf, Braun, Daniel, Oeztuerk, Can, Baldus, Stephan, Rassaf, Tienush, Thiele, Holger, Nickenig, Georg, Hausleiter, Joerg, Moellmann, Helge, Rudolph, Volker, von Bardeleben, Ralph Stephan, Nef, Holger, Luedike, Peter, Lurz, Philipp and Pfister, Roman (2020). German Multicenter Experience With a New Leaflet-Based Transcatheter Mitral Valve Repair System for Mitral Regurgitation. J. Am. Coll. Cardiol., 76 (17). S. B143 - 2. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-3597

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

Michels, Guido, Wengenmayer, Tobias, Hagl, Christian, Dohmen, Christian, Boettiger, Bernd W., Bauersachs, Johann, Markewitz, Andreas, Bauer, Adrian ORCID: 0000-0003-2598-7422, Graesner, Jan-Thorsten, Pfister, Roman, Ghanem, Alexander, Busch, Hans-Joerg, Kreimeier, Uwe, Beckmann, Andreas, Fischer, Matthias, Kill, Clemens, Janssens, Uwe, Kluge, Stefan, Born, Frank, Hoffmeister, Hans Martin, Preusch, Michael, Boeken, Udo, Riessen, Reimer and Thiele, Holger (2019). Recommendations for extracorporeal cardiopulmonary resuscitation (eCPR): consensus statement of DGIIN, DGK, DGTHG, DGfK, DGNI, DGAI, DIVI and GRC. Clin. Res. Cardiol., 108 (5). S. 455 - 465. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1861-0692

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

Miura, Mizuki, Alessandrini, Hannes, Alkhodair, Abdullah, Attinger-Toller, Adrian, Biasco, Luigi, Lurz, Philipp, Braun, Daniel, Brochet, Eric, Connelly, Kim A., de Bruijn, Sabine, Denti, Paolo, Deuschl, Florian, Estevez-Loureiro, Rodrigo, Fam, Neil, Frerker, Christian, Gavazzoni, Mara, Hausleiter, Jorg, Himbert, Dominique, Ho, Edwin, Juliard, Jean-Michel, Kaple, Ryan, Besler, Christian, Kodali, Susheel, Kreidel, Felix, Kuck, Karl-Heinz, Latib, Azeem, Lauten, Alexander, Monivas, Vanessa, Mehr, Michael, Muntane-Carol, Guillem, Nazif, Tamin, Nickenig, Georg, Pedrazzini, Giovanni, Philippon, Francois, Pozzoli, Alberto, Praz, Fabien, Puri, Rishi, Rodes-Cabau, Josep, Schafer, Ulrich, Schofer, Joachim, Sievert, Horst, Tang, Gilbert H. L., Thiele, Holger ORCID: 0000-0002-0169-998X, Rommel, Karl-Philipp, Vahanian, Alec, Von Bardeleben, Ralph Stephan, Webb, John G., Weber, Marcel ORCID: 0000-0003-4100-9522, Windecker, Stephan, Winkel, Mirjam, Zuber, Michel, Leon, Martin B., Maisano, Francesco ORCID: 0000-0002-3691-1709, Hahn, Rebecca T. and Taramasso, Maurizio (2020). Impact of Massive or Torrential Tricuspid Regurgitation in Patients Undergoing Transcatheter Tricuspid Valve Intervention. JACC-Cardiovasc. Interv., 13 (17). S. 1999 - 2010. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-7605

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, 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

Napp, L. Christian ORCID: 0000-0001-9945-0842, Cammann, Victoria L., Jaguszewski, Milosz, Szawan, Konrad A., Wischnewsky, Manfred ORCID: 0000-0003-1365-6351, Gili, Sebastiano, Knorr, Maike, Heiner, Susanne, Citro, Rodolfo, Bossone, Eduardo, D'Ascenzo, Fabrizio, Neuhaus, Michael, Franke, Jennifer, Sorici-Barb, Ioana, Noutsias, Michel, Burgdorf, Christof, Koenig, Wolfgang, Kherad, Behrouz, Sarcon, Annahita, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Pott, Alexander, Meyer, Philippe, Arroja, Jose D., Banning, Adrian, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Hauck, Christian, Paolini, Carla, Bilato, Claudio ORCID: 0000-0003-3474-0579, Imori, Yoichi, Kato, Ken, Kobayashi, Yoshio, Opolski, Grzegorz, Budnik, Monika, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Dichtl, Wolfgang, Chan, Christina, Bridgman, Paul, Beug, Daniel, Delmas, Clement, Lairez, Olivier, El-Battrawy, Ibrahim, Akin, Ibrahim, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Horowitz, John D., Polednikova, Karolina, Tousek, Petr, Widimsky, Petr, Winchester, David E., Galuszka, Jan, Ukena, Christian, Poglajen, Gregor, Carrilho-Ferreira, Pedro, Di Mario, Carlo, Prasad, Abhiram, Rihal, Charanjit S., Schulze, P. Christian, Bianco, Matteo, Crea, Filippo, Borggrefe, Martin, Maier, Lars S., Pinto, Fausto J., Braun-Dullaeus, Ruediger C., Rottbauer, Wolfgang, Katus, Hugo A., Hasenfuss, Gerd, Tschoepe, Carsten, Pieske, Burkert M., Thiele, Holger ORCID: 0000-0002-0169-998X, Schunkert, Heribert, Boehm, Michael, Felix, Stephan B., Muenzel, Thomas, Bax, Jeroen J., Bauersachs, Johann, Braunwald, Eugene, Luescher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R. and Templin, Christian (2020). Coexistence and outcome of coronary artery disease in Takotsubo syndrome. Eur. Heart J., 41 (34). S. 3255 - 3269. OXFORD: OXFORD UNIV PRESS. ISSN 1522-9645

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

Ng, Joanne ORCID: 0000-0002-7946-9965, Zhen, Juan ORCID: 0000-0002-6111-9692, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian ORCID: 0000-0003-4220-0978, Rider, Nicholas L., Morton, D. Holmes, Strauss, Kevin A., Puffenberger, Erik G., D'Agnano, Daniela, Anikster, Yair, Carducci, Claudia, Hyland, Keith, Rotstein, Michael, Leuzzi, Vincenzo ORCID: 0000-0002-2314-6139, Borck, Guntram, Reith, Maarten E. A. and Kurian, Manju A. (2014). Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain, 137. S. 1107 - 1120. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

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

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 ORCID: 0000-0002-6065-1476, Nawara, Magdalena, Rzonca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmuller, Janine, Krause, Roland 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 ORCID: 0000-0003-1876-5872 and Leshinsky-Silver, Esther (2017). Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain, 140. S. 2879 - 2895. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

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

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

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

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