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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).
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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
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ORCID: 0000-0001-7360-6060, Burgoyne, Tom, Al Turki, Saeed, Hurles, Matthew E., Koehler, Gabriele, Schroeder, Josef, Nuernberg, Gudrun, Nuernberg, Peter, Chung, Eddie M. K., Reinhardt, Richard
ORCID: 0000-0001-9376-2132, Marthin, June K., Nielsen, Kim G., Mitchison, Hannah M. and Omran, Heymut
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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry.
Am. J. Hum. Genet., 91 (4).
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CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
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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
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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.
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Rahner, Nils, Nuernberg, Gudrun, Finis, David, Nuernberg, Peter and Royer-Pokora, Brigitte (2016). A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. Ophthalmic Genet., 37 (3). S. 294 - 301. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094
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ORCID: 0000-0002-8072-4476, Nuernberg, Gudrun, Nuernberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong
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Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
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CELL PRESS.
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Schaefer, Elise, Collet, Corinne, Genevieve, David, Vincent, Marie ORCID: 0000-0003-1010-5618, Lohmann, Dietmar R.
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Genet. Med., 16 (9).
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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
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The missing link: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Hum. Genet., 133 (1).
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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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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).
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COLD SPRING HARBOR:
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT.
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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
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TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
eLife, 4.
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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
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A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Hum. Genet., 135 (2).
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NEW YORK:
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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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ORCID: 0000-0002-5777-7262, Bilguvar, Kaya, Hamed, Sherifa
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ORCID: 0000-0001-9744-5222, Salpietro, Vincenzo, Scala, Marcello
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain, 144.
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OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Yigit, Goekhan, Brown, Karen E., Kayserili, Hulya ORCID: 0000-0003-0376-499X, Pohl, Esther, Caliebe, Almuth
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Mutations in CDK5RAP2 cause Seckel syndrome.
Mol. Genet. Genom. Med., 3 (5).
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WILEY.
ISSN 2324-9269
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PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
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WILEY.
ISSN 1098-1004
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A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss.
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CELL PRESS.
ISSN 0002-9297