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Journal Article

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, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Ozlem Simsek, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Percin, E. Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Liu, Yicheng, Banka, Siddharth ORCID: 0000-0002-8527-2210, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Elcioglu, Nursel, Prontera, Paolo ORCID: 0000-0003-4960-9223, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Stewart, A. Francis, Donnai, Dian, Strom, Tim M., Boduroglu, Koray ORCID: 0000-0001-6260-1942, Yigit, Goekhan, Li, Yun, Katsanis, Nicholas and Wollnik, Bernd (2015). RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J. Clin. Invest., 125 (9). S. 3585 - 3600. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

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

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

Dimopoulou, Aikaterini, Fischer, Bjorn, Gardeitchik, Thatjana, Schroeter, Phillipe, Kayserili, Hullya, Schlack, Claire, Li, Yun, Brum, Jaime Moritz, Barisic, Ingeborg, Castori, Marco ORCID: 0000-0002-6069-0993, Spaich, Christiane, Fletcher, Elaine, Mahayri, Zeina, Bhat, Meenakshi, Girisha, Katta M., Lachlan, Katherine, Johnson, Diana, Phadke, Shubha ORCID: 0000-0002-6624-082X, Gupta, Neerja, Simandlova, Martina, Kabra, Madhulika, David, Albert, Nijtmans, Leo, Chitayat, David, Tuysuz, Beyhan ORCID: 0000-0002-9620-5021, Brancati, Francesco, Mundlos, Stefan, Van Maldergem, Lionel ORCID: 0000-0001-8880-5214, Morava, Eva, Wollnik, Bernd and Kornak, Uwe (2013). Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol. Genet. Metab., 110 (3). S. 352 - 362. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1096-7206

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

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

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

Li, Yun, Boegershausen, Nina, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kiper, Pelin Ozlem Simsek, Plume, Nadine, Keupp, Katharina, Pohl, Esther, Pawlik, Barbara, Rachwalski, Martin, Milz, Esther, Thoenes, Michaela, Albrecht, Beate, Prott, Eva-Christina, Lehmkuehler, Margret, Demuth, Stephanie, Utine, Gulen Eda, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Frankenbusch, Katja, Borck, Guntram, Gillessen-Kaesbach, Gabriele, Yigit, Gokhan, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492 and Wollnik, Bernd (2011). A mutation screen in patients with Kabuki syndrome. Hum. Genet., 130 (6). S. 715 - 725. NEW YORK: SPRINGER. ISSN 0340-6717

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

Li, Yun, Pabst, Stefan, Kubisch, Christian ORCID: 0000-0003-4220-0978, Grohe, Christian and Wollnik, Bernd (2010). First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis. Thorax, 65 (10). S. 939 - 943. LONDON: B M J PUBLISHING GROUP. ISSN 0040-6376

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, 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, 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

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

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

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

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

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

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

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

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

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