Universität zu Köln

Journal Article

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

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

Bendon, Charlotte L., Fenwick, Aimee L., Hurst, Jane A., Nuernberg, Gudrun, Nuernberg, Peter, Wall, Steven A., Wilkie, Andrew O. M. and Johnson, David (2012). Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med. Genet., 13. LONDON: BMC. ISSN 1471-2350

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

Bolz, Hanno Joern, Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Nuernberg, Peter, Karnati, Srikanth, Swan, Daniel, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Zaki, Maha (2015). PEX6 mutation causing deaf blindness with enamel dysplasia and microcephaly. Invest. Ophthalmol. Vis. Sci., 56 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

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

Borck, Guntram, de Vries, Liat, Wu, Hsin-Jung, Smirin-Yosef, Pola, Nuernberg, Gudrun, Lagovsky, Irina, Ishida, Luis Henrique, Thierry, Patrick, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Nuernberg, Peter, Foley, John, Kubisch, Christian ORCID: 0000-0003-4220-0978 and Basel-Vanagaite, Lina (2014). Homozygous truncating PTPRF mutation causes athelia. Hum. Genet., 133 (8). S. 1041 - 1048. NEW YORK: SPRINGER. ISSN 1432-1203

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

Daud, Shakeela, Kakar, Naseebullah, Goebel, Ingrid, Hashmi, Abu Saeed, Yaqub, Tahir ORCID: 0000-0001-8698-3818, Nuernberg, Gudrun, Nuernberg, Peter, Morris-Rosendahl, Deborah J., Wasim, Muhammad, Volk, Alexander E., Kubisch, Christian ORCID: 0000-0003-4220-0978, Ahmad, Jainil and Borck, Guntram (2016). Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. Amyotroph. Lateral Scher. Frontotemp. Degenerat., 17 (3-4). S. 260 - 266. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 2167-9223

Eisenberger, Tobias, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Decker, Christian, Delle Vedove, Andrea, Neuhaus, Christine, Nuernberg, Gudrun, Toliat, Mohammad, Nuernberg, Peter, Muerbe, Dirk and Bolz, Hanno Joern (2018). A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. Genet. Med., 20 (6). S. 614 - 622. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad ORCID: 0000-0001-6127-6308, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Boerger, Doris, Bohring, Axel, Schreml, Julia, Koertge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah ORCID: 0000-0002-0668-1762, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nuernberg, Gudrun, Nuernburg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit and Bolz, Hanno J. (2013). Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies. PLoS One, 8 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Elsayed, Solaf M., Heller, Raoul, Thoenes, Michaela, Zaki, Maha S., Swan, Daniel ORCID: 0000-0001-8978-8129, Elsobky, Ezzat, Zuehlke, Christine, Ebermann, Inga, Nuernberg, Gudrun, Nuernberg, Peter and Bolz, Hanno J. (2014). Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. Eur. J. Hum. Genet., 22 (2). S. 286 - 289. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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

Gee, Heon Yung ORCID: 0000-0002-8741-6177, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Al Attrach, Ibrahim, Al Hassoun, Ibrahim, Ozturk, Savas ORCID: 0000-0002-0961-3810, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo ORCID: 0000-0002-1278-3650, Lewis, Richard A., Nuernberg, Gudrun, Nuernberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn ORCID: 0000-0002-1369-5740 and Hildebrandt, Friedhelm (2014). Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int., 85 (4). S. 880 - 888. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Geisel, Marie H., Coassin, Stefan ORCID: 0000-0001-5677-8979, Hessler, Nicole, Bauer, Marcus, Eisele, Lewin, Erbel, Raimund, Haun, Margot, Hennig, Frauke, Moskau-Hartmann, Susanna, Hoffmann, Barbara, Joeckel, Karl-Heinz, Kedenko, Lyudmyla, Kiechl, Stefan, Kollerits, Barbara, Mahabadi, Amir-Abbas, Moebus, Susanne, Nuernberg, Gudrun, Nuernberg, Peter, Paulweber, Bernhard, Vens, Maren, Willeit, Johann, Willeit, Karin, Klockgether, Thomas, Ziegler, Andreas ORCID: 0000-0002-8386-5397, Scherag, Andre and Kronenberg, Florian ORCID: 0000-0003-2229-1120 (2016). Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: The Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck Study. Atherosclerosis, 249. S. 83 - 88. CLARE: ELSEVIER IRELAND LTD. ISSN 1879-1484

Geisel, Marie H., Hessler, Nicole, Coassin, Stefan, Moskau-Hartmann, Susanna, Nuernberg, Gudrun, Eisele, Lewin, Hennig, Frauke, Bauer, Marcus, Mahabadi, Amir-Abbas, Moebus, Susanne, Erbel, Raimund, Hoffmann, Barbara, Nuernberg, Peter, Klockgether, Thomas, Joeckel, Karl-Heinz, Scherag, Andre, Kronenberg, Florian and Ziegler, Andreas (2015). Replication effort for common variants associated with carotid intima media thickness within four independent samples. Genet. Epidemiol., 39 (7). S. 550 - 552. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-2272

Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nuernberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nuernberg, Peter and Berger, Wolfgang (2014). Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome. PLoS One, 9 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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

Hessler, Nicole, Geisel, Marie Henrike, Coassin, Stefan ORCID: 0000-0001-5677-8979, Erbel, Raimund, Heilmann, Stefanie, Hennig, Frauke, Hoffmann, Barbara, Joeckel, Karl-Heinz, Moebus, Susanne, Moskau-Hartmann, Susanna, Nuernberg, Gudrun, Nuernberg, Peter, Vens, Maren, Klockgether, Thomas, Kronenberg, Florian ORCID: 0000-0003-2229-1120, Scherag, Andre and Ziegler, Andreas (2016). Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness. Stroke, 47 (12). S. 2904 - 2910. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1524-4628

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

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

Kakar, Naseebullah, Goebel, Ingrid, Daud, Shakeela, Nuernberg, Gudrun, Agha, Noor, Ahmad, Adeel, Nuernberg, Peter, Kubisch, Christian ORCID: 0000-0003-4220-0978, Ahmad, Jamil and Borck, Guntram (2012). A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly. Eur. J. Med. Genet., 55 (12). S. 727 - 732. AMSTERDAM: ELSEVIER. ISSN 1878-0849

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

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

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

Lang-Roth, Ruth, Fischer-Krall, Eva, Kornblum, Cornelia, Nuernberg, Gudrun, Meschede, Dieter, Goebel, Ingrid, Nuernberg, Peter, Beutner, Dirk, Kubisch, Christian ORCID: 0000-0003-4220-0978, Walger, Martin and Volk, Alexander E. (2017). AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance. Audiol. Neuro-Otol., 22 (1). S. 30 - 41. BASEL: KARGER. ISSN 1421-9700

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

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

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

Montalbano, Antonino, Juergensen, Lonny, Roeth, Ralph, Weiss, Birgit, Fukami, Maki ORCID: 0000-0001-9971-4035, Fricke-Otto, Susanne, Binder, Gerhard, Ogata, Tsutomu ORCID: 0000-0001-7178-9991, Decker, Eva, Nuernberg, Gudrun, Hassel, David and Rappold, Gudrun A. (2016). Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO Mol. Med., 8 (12). S. 1455 - 1470. HOBOKEN: WILEY. ISSN 1757-4684

Neitzel, Heidemarie, Varon, Raymonda, Chughtai, Sana, Dartsch, Josephine, Dutrannoy-Toensing, Veronique, Nuernberg, Peter, Nuernberg, Gudrun, Schweiger, Michal, Digweed, Martin, Hildebrand, Gabriele, Hackmann, Karl, Holtgrewe, Manuel, Sarioglu, Nanette, Schulze, Bernt, Horn, Denise and Sperling, Karl (2022). Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4. Hum. Genet., 141 (11). S. 1785 - 1795. NEW YORK: SPRINGER. ISSN 1432-1203

Olbrich, Heike, Schmidts, Miriam ORCID: 0000-0002-1714-6749, Werner, Claudius, Onoufriadis, Alexandros, Loges, Niki T., Raidt, Johanna, Banki, Nora Fanni, Shoemark, Amelia ORCID: 0000-0001-7360-6060, Burgoyne, Tom, Al Turki, Saeed, Hurles, Matthew E., Koehler, Gabriele, Schroeder, Josef, Nuernberg, Gudrun, Nuernberg, Peter, Chung, Eddie M. K., Reinhardt, Richard ORCID: 0000-0001-9376-2132, Marthin, June K., Nielsen, Kim G., Mitchison, Hannah M. and Omran, Heymut (2012). Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry. Am. J. Hum. Genet., 91 (4). S. 672 - 685. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn ORCID: 0000-0002-1369-5740, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen ORCID: 0000-0002-0658-4399, Letteboer, Stef J. F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro ORCID: 0000-0001-9868-2465, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko ORCID: 0000-0001-5541-0216, Maher, Eamonn R., Guay-Woodford, Lisa M., Neumann, Hartmut P. H., Obermueller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu ORCID: 0000-0003-1772-7161, Lewis, Richard A., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Monica Bettencourt, Zhang, Xinmin, Cavalcoli, James D., Nuernberg, Gudrun, Nuernberg, Peter, Pierce, Eric A., Jackson, Peter K., Antignac, Corinne, Saunier, Sophie ORCID: 0000-0002-1069-0047, Roepman, Ronald ORCID: 0000-0002-5178-8163, Dollfus, Helene, Khanna, Hemant and Hildebrandt, Friedhelm (2010). Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nature Genet., 42 (10). S. 840 - 853. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Rahner, Nils, Nuernberg, Gudrun, Finis, David, Nuernberg, Peter and Royer-Pokora, Brigitte (2016). A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. Ophthalmic Genet., 37 (3). S. 294 - 301. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

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Schaefer, Elise, Collet, Corinne, Genevieve, David, Vincent, Marie ORCID: 0000-0003-1010-5618, Lohmann, Dietmar R. ORCID: 0000-0002-2624-9889, Sanchez, Elodie, Bolender, Chantal, Eliot, Marie-Madeleine, Nuernberg, Gudrun, Passos-Bueno, Maria-Rita, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Van Maldergem, Lionel ORCID: 0000-0001-8880-5214 and Doray, Berenice (2014). Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. Genet. Med., 16 (9). S. 720 - 725. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan ORCID: 0000-0001-9574-7841, Nuernberg, Gudrun, Nuernberg, Peter, Kuhn, Joachim and Ozkinay, Ferda (2014). The missing link: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. Hum. Genet., 133 (1). S. 29 - 40. NEW YORK: SPRINGER. ISSN 1432-1203

Seeman, Tomas, Seemanova, Eva, Nuernberg, Gudrun, Nuernberg, Peter, Janssen, Sabine and Otto, Edgar A. (2010). Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. Pediatr. Nephrol., 25 (11). S. 2375 - 2377. NEW YORK: SPRINGER. ISSN 0931-041X

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Stephen, Louise A., Tawamie, Hasan, Davis, Gemma M., Tebbe, Lars, Nuernberg, Peter, Nuernberg, Gudrun, Thiele, Holger, Thoenes, Michaela, Boltshauser, Eugen, Uebe, Steffen, Rompel, Oliver, Reis, Andre ORCID: 0000-0002-6301-6363, Ekici, Arif B., McTeir, Lynn, Fraser, Amy M., Hall, Emma A., Mill, Pleasantine ORCID: 0000-0001-5218-134X, Daudet, Nicolas ORCID: 0000-0002-4039-4716, Cross, Courtney ORCID: 0000-0001-5345-9614, Wolfrum, Uwe, Abou Jamra, Rami, Davey, Megan G. and Bolz, Hanno J. (2015). TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). eLife, 4. CAMBRIDGE: ELIFE SCIENCES PUBLICATIONS LTD. ISSN 2050-084X

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

Thiele, Holger, du Moulin, Marcel, Barczyk, Katarzyna, George, Christel, Schwindt, Wolfram, Nuernberg, Gudrun, Frosch, Michael, Kurlemann, Gerhard, Roth, Johannes, Nuernberg, Peter and Rutsch, Frank (2010). Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutieres Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression. Hum. Mutat., 31 (11). S. E1836 - 15. MALDEN: WILEY-BLACKWELL. ISSN 1059-7794

Thoenes, Michaela, Zimmermann, Ulrike, Ebermann, Inga, Ptok, Martin, Lewis, Morag A., Thiele, Holger, Morlot, Susanne, Hess, Markus M., Gal, Andreas, Eisenberger, Tobias, Bergmann, Carsten, Nuernberg, Gudrun, Nuernberg, Peter, Steel, Karen P., Knipper, Marlies and Bolz, Hanno Joern (2015). OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J. Rare Dis., 10. LONDON: BMC. ISSN 1750-1172

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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

Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth ORCID: 0000-0001-9083-2916, Swan, Daniel ORCID: 0000-0001-8978-8129, Fateen, Ekram ORCID: 0000-0002-0777-0417, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Bolz, Hanno J. (2016). PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum. Mutat., 37 (2). S. 170 - 175. HOBOKEN: WILEY. ISSN 1098-1004

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