Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

por Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nürnberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nürnberg, Peter, Berger, Wolfgang
Publicado 2014

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

por Bendon, Charlotte L, Fenwick, Aimée L, Hurst, Jane A, Nürnberg, Gudrun, Nürnberg, Peter, Wall, Steven A, Wilkie, Andrew OM, Johnson, David
Publicado 2012

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

por Ahmad, Adeel, Daud, Shakeela, Kakar, Naseebullah, Nürnberg, Gudrun, Nürnberg, Peter, Babar, Masroor Ellahi, Thoenes, Michaela, Kubisch, Christian, Ahmad, Jamil, Bolz, Hanno Jörn
Publicado 2011

Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression

por Thiele, Holger, du Moulin, Marcel, Barczyk, Katarzyna, George, Christel, Schwindt, Wolfram, Nürnberg, Gudrun, Frosch, Michael, Kurlemann, Gerhard, Roth, Johannes, Nürnberg, Peter, Rutsch, Frank
Publicado 2010

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

por Eisenberger, Tobias, Slim, Rima, Mansour, Ahmad, Nauck, Markus, Nürnberg, Gudrun, Nürnberg, Peter, Decker, Christian, Dafinger, Claudia, Ebermann, Inga, Bergmann, Carsten, Bolz, Hanno Jörn
Publicado 2012

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

por Khan, Arif O., Becirovic, Elvir, Betz, Christian, Neuhaus, Christine, Altmüller, Janine, Maria Riedmayr, Lisa, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J.
Publicado 2017

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73

por Eisenberger, Tobias, Di Donato, Nataliya, Decker, Christian, Delle Vedove, Andrea, Neuhaus, Christine, Nürnberg, Gudrun, Toliat, Mohammad, Nürnberg, Peter, Mürbe, Dirk, Bolz, Hanno Jörn
Publicado 2018

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family

por Ahmad, Ilyas, Khan, Ayaz, Noor Ul Ayan, Hafiza, Budde, Birgit, Altmüller, Janine, Korejo, Asad Aslam, Nürnberg, Gudrun, Thiele, Holger, Tariq, Muhmmad, Nürnberg, Peter, Erdmann, Jeanette
Publicado 2022

Ethnic-specific WRN mutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry

por Saha, Bidisha, Lessel, Davor, Nampoothiri, Sheela, Rao, Anuradha S, Hisama, Fuki M, Peter, Dincy, Bennett, Chris, Nürnberg, Gudrun, Nürnberg, Peter, Martin, George M, Kubisch, Christian, Oshima, Junko
Publicado 2013

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

por Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Rösler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmüller, Janine, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Hahnen, Eric, Beck, Bodo B.
Publicado 2013

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

por Neitzel, Heidemarie, Varon, Raymonda, Chughtai, Sana, Dartsch, Josephine, Dutrannoy-Tönsing, Véronique, Nürnberg, Peter, Nürnberg, Gudrun, Schweiger, Michal, Digweed, Martin, Hildebrand, Gabriele, Hackmann, Karl, Holtgrewe, Manuel, Sarioglu, Nanette, Schulze, Bernt, Horn, Denise, Sperling, Karl
Publicado 2022

Mutations in CDK5RAP2 cause Seckel syndrome

por Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd
Publicado 2015

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

por Thoenes, Michaela, Zimmermann, Ulrike, Ebermann, Inga, Ptok, Martin, Lewis, Morag A, Thiele, Holger, Morlot, Susanne, Hess, Markus M, Gal, Andreas, Eisenberger, Tobias, Bergmann, Carsten, Nürnberg, Gudrun, Nürnberg, Peter, Steel, Karen P, Knipper, Marlies, Bolz, Hanno Jörn
Publicado 2015

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

por Spielmann, Malte, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nürnberg, Gudrun, Sowada, Nadine, Lupiáñez, Darío G., Harabula, Izabela, Flöttmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Rüstem, Altmüller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nürnberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian, Mundlos, Stefan, Borck, Guntram
Publicado 2016

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

por Stephen, Louise A, Tawamie, Hasan, Davis, Gemma M, Tebbe, Lars, Nürnberg, Peter, Nürnberg, Gudrun, Thiele, Holger, Thoenes, Michaela, Boltshauser, Eugen, Uebe, Steffen, Rompel, Oliver, Reis, André, Ekici, Arif B, McTeir, Lynn, Fraser, Amy M, Hall, Emma A, Mill, Pleasantine, Daudet, Nicolas, Cross, Courtney, Wolfrum, Uwe, Jamra, Rami Abou, Davey, Megan G, Bolz, Hanno J
Publicado 2015

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

por Neidhardt, John, Glaus, Esther, Lorenz, Birgit, Netzer, Christian, Li, Yün, Schambeck, Maria, Wittmer, Mariana, Feil, Silke, Kirschner-Schwabe, Renate, Rosenberg, Thomas, Cremers, Frans P.M., Bergen, Arthur A.B., Barthelmes, Daniel, Baraki, Husnia, Schmid, Fabian, Tanner, Gaby, Fleischhauer, Johannes, Orth, Ulrike, Becker, Christian, Wegscheider, Erika, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno Jörn, Gal, Andreas, Berger, Wolfgang
Publicado 2008

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

por Hildebrandt, Friedhelm, Heeringa, Saskia F., Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, Seelow, Dominik, Huebner, Norbert, Chernin, Gil, Vlangos, Christopher N., Zhou, Weibin, O'Toole, John F., Hoskins, Bethan E., Wolf, Matthias T. F., Hinkes, Bernward G., Chaib, Hassan, Ashraf, Shazia, Schoeb, Dominik S., Ovunc, Bugsu, Allen, Susan J., Vega-Warner, Virginia, Wise, Eric, Harville, Heather M., Lyons, Robert H., Washburn, Joseph, MacDonald, James, Nürnberg, Peter, Otto, Edgar A.
Publicado 2009

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

por Lemaire, Mathieu, Frémeaux-Bacchi, Véronique, Schaefer, Franz, Choi, Murim, Tang, Wai Ho, Le Quintrec, Moglie, Fakhouri, Fadi, Taque, Sophie, Nobili, François, Martinez, Frank, Ji, Weizhen, Overton, John D., Mane, Shrikant M., Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Morin, Denis, Deschenes, Georges, Baudouin, Véronique, Llanas, Brigitte, Collard, Laure, Majid, Mohammed A., Simkova, Eva, Nürnberg, Peter, Rioux-Leclerc, Nathalie, Moeckel, Gilbert W., Gubler, Marie Claire, Hwa, John, Loirat, Chantal, Lifton, Richard P.
Publicado 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

por Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Börger, Doris, Bohring, Axel, Schreml, Julia, Körtge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nürnberg, Gudrun, Nürnberg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit, Bolz, Hanno J.
Publicado 2013

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

por Martin, Carol-Anne, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid, Bicknell, Louise S, Leitch, Andrea, Nürnberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E, Hunt, David, Khan, Fawad, Ali, Zafar, Tinschert, Sigrid, Ding, James, Keith, Charlotte, Harley, Margaret E, Heyn, Patricia, Müller, Rolf, Hoffmann, Ingrid, Cormier-Daire, Valérie, Dollfus, Hélène, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana, Mendoza-Londono, Roberto, Moore, Anthony T, Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmüller, Janine, Höhne, Wolfgang, Hurles, Matthew E, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter, Jackson, Andrew P
Publicado 2014