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Journal Article
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
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
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
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
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
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
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
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, 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
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
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
Riessland, Markus ORCID: 0000-0003-2592-5045, Kaczmarek, Anna, Schneider, Svenja, Swoboda, Kathryn J., Loehr, Heiko, Bradler, Cathleen, Grysko, Vanessa, Dimitriadi, Maria, Hosseinibarkooie, Seyyedmohsen, Torres-Benito, Laura, Peters, Miriam, Upadhyay, Aaradhita, Biglari, Nasim, Kroeber, Sandra, Hoelker, Irmgard, Garbes, Lutz, Gilissen, Christian
ORCID: 0000-0003-1693-9699, Hoischen, Alexander
ORCID: 0000-0002-8072-4476, Nuernberg, Gudrun, Nuernberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong
ORCID: 0000-0002-1323-7256, Hart, Anne C., Hammerschmidt, Matthias, Kloppenburg, Peter and Wirth, Brunhilde
ORCID: 0000-0003-4051-5191
(2017).
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Am. J. Hum. Genet., 100 (2).
S. 297 - 316.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Spielmann, Malte ORCID: 0000-0002-0583-4683, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nuernberg, Gudrun, Sowada, Nadine, Lupianez, Dario G.
ORCID: 0000-0002-3165-036X, Harabula, Izabela, Floettmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Ruestem, Altmueller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nuernberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Mundlos, Stefan and Borck, Guntram
(2016).
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Genome Res., 26 (2).
S. 183 - 192.
COLD SPRING HARBOR:
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT.
ISSN 1549-5469
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
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