Entries of Nürnberg, Peter on the publication server

Nuzhat, Nafisa , Van Schil, Kristof , Liakopoulos, Sandra, Bauwens, Miriam, Rey, Alfredo Dueñas, Käseberg, Stephan, Jäger, Melanie, Willer, Jason R. , Winter, Jennifer, Truong, Hanh M. , Gruartmoner, Nuria, Van Heetvelde, Mattias, Wolf, Joachim, Merget, Robert, Grasshoff-Derr, Sabine, Van Dorpe, Jo, Hoorens, Anne, Stöhr, Heidi, Mansard, Luke, Roux, Anne-Françoise , Langmann, Thomas, Dannhausen, Katharina, Rosenkranz, David, Wissing, Karl M., Van Lint, Michel, Rossmann, Heidi , Häuser, Friederike, Nürnberg, Peter, Thiele, Holger, Zechner, Ulrich, Pearring, Jillian N. , De Baere, Elfride and Bolz, Hanno J. (2023) CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. Journal of Clinical Investigation 133 (8). Fulltext not available.

Dumont, Martine , Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna , Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A., Allen, Jamie, Altmüller, Janine, Arnold, Norbert , Ausems, Margreet G. E. M. , Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley , Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R. , Dunning, Alison M., Engel, Christoph , Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horváth, Judit, Ikram, M. Arfan, Kaulfuß, Silke , Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M. , Niederacher, Dieter, Nürnberg, Peter , Ott, Claus-Eric , Peters, Annette , Pharoah, Paul D. P., Ramirez, Alfredo , Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar , Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael , Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F. , Devilee, Peter , Tavtigian, Sean, Bader, Gary D. , Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K. , Hahnen, Eric and Simard, Jacques (2022) Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers 14 (14), p. 3363. Fulltext not available.

Khuller, Katharina, Yigit, Gökhan, Martínez Grijalva, Carolina, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Köninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd and Kuechler, Alma (2021) MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease. European Journal of Medical Genetics 64 (10), p. 104310. Fulltext not available.

Kargapolova, Yulia , Rehimi, Rizwan, Kayserili, Hülya , Brühl, Joanna, Sofiadis, Konstantinos, Zirkel, Anne, Palikyras, Spiros, Mizi, Athanasia, Li, Yun, Yigit, Gökhan , Hoischen, Alexander , Frank, Stefan, Russ, Nicole, Trautwein, Jonathan, van Bon, Bregje, Gilissen, Christian , Laugsch, Magdalena, Gusmao, Eduardo Gade, Josipovic, Natasa , Altmüller, Janine, Nürnberg, Peter, Längst, Gernot, Kaiser, Frank J., Watrin, Erwan, Brunner, Han, Rada-Iglesias, Alvaro , Kurian, Leo , Wollnik, Bernd , Bouazoune, Karim and Papantonis, Argyris (2021) Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology. Nature Communications 12 (1). Fulltext not available.

Grassmann, Felix , Harsch, Sebastian, Brandl, Caroline , Kiel, Christina, Nürnberg, Peter, Toliat, Mohammad R., Fleckenstein, Monika, Pfau, Maximilian, Schmitz-Valckenberg, Steffen, Holz, Frank G., Chew, Emily Y., Swaroop, Anand, Ratnapriya, Rinki , Klein, Michael L., Mulyukov, Zufar, Zamiri, Parisa and Weber, Bernhard H. F. (2019) Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. JAMA Ophthalmology 137 (8), p. 867. Fulltext not available.

Hauke, Jan, Horvath, Judit, Groß, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert , Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang-Gohrke, Shan, Smogavec, Mateja, Weber, Bernhard H. F., Weber-Lassalle, Nana, Weber-Lassalle, Konstantin, Borde, Julika, Ernst, Corinna, Altmüller, Janine, Volk, Alexander E., Thiele, Holger, Hübbel, Verena, Nürnberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian , Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian , Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph , Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2018) Gene panel testing of 5589 BRCA1/2 -negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Medicine 7 (4), pp. 1349-1358. Fulltext not available.

Li, Man , Li, Yong , Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander, Huffman, Jennifer E., Tromp, Gerard , Fuchsberger, Christian, Gorski, Mathias, Lyytikäinen, Leo-Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S., Arking, Dan E., Bihlmeyer, Nathan A. , Böger, Carsten A., Carroll, Robert J., Chasman, Daniel I., Cornelis, Marilyn C., Dehghan, Abbas, Faul, Jessica D. , Feitosa, Mary F. , Gambaro, Giovanni, Gasparini, Paolo, Giulianini, Franco, Heid, Iris, Huang, Jinyan, Imboden, Medea, Jackson, Anne U., Jeff, Janina, Jhun, Min A., Katz, Ronit, Kifley, Annette, Kilpeläinen, Tuomas O. , Kumar, Ashish, Laakso, Markku, Li-Gao, Ruifang, Lohman, Kurt, Lu, Yingchang, Mägi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L., Mook-Kanamori, Dennis O., Robino, Antonietta, Ruderfer, Douglas, Salvi, Erika, Schick, Ursula M., Schulz, Christina-Alexandra, Smith, Albert V. , Smith, Jennifer A. , Traglia, Michela, Yerges-Armstrong, Laura M., Zhao, Wei, Goodarzi, Mark O., Kraja, Aldi T., Liu, Chunyu, Wessel, Jennifer , Boerwinkle, Eric, Borecki, Ingrid B., Bork-Jensen, Jette, Bottinger, Erwin P., Braga, Daniele, Brandslund, Ivan, Brody, Jennifer A., Campbell, Archie, Carey, David J., Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C., Cusi, Daniele, de Boer, Ian H., de Vries, Aiko P. J. , Denny, Joshua C., Devuyst, Olivier, Dreisbach, Albert W., Endlich, Karlhans , Esko, Tõnu, Franco, Oscar H. , Fulop, Tibor, Gerhard, Glenn S., Glümer, Charlotte, Gottesman, Omri, Grarup, Niels , Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B., Husemoen, Lise Lotte N., Jackson, Rebecca D., Jørgensen, Torben , Jørgensen, Marit E. , Kähönen, Mika, Kardia, Sharon L. R., König, Wolfgang, Kooperberg, Charles, Kriebel, Jennifer , Launer, Lenore J., Lauritzen, Torsten, Lehtimäki, Terho, Levy, Daniel, Linksted, Pamela, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J. F. , Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andres, Mitchell, Paul, Nauck, Matthias, Nürnberg, Peter, Orho-Melander, Marju, Parsa, Afshin, Pedersen, Oluf , Peters, Annette , Peters, Ulrike , Polasek, Ozren , Porteous, David, Probst-Hensch, Nicole M., Psaty, Bruce M., Qi, Lu, Raitakari, Olli T., Reiner, Alex P., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Rossouw, Jacques E., Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela, Turner, Stephen T., Uitterlinden, André G., Ulivi, Sheila, Velayutham, Dinesh, Völker, Uwe, Völzke, Henry, Waldenberger, Melanie , Wang, Jie Jin, Weir, David R., Witte, Daniel , Kuivaniemi, Helena , Fox, Caroline S., Franceschini, Nora, Goessling, Wolfram, Köttgen, Anna and Chu, Audrey Y. (2016) SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. Journal of the American Society of Nephrology 28 (3), pp. 981-994. Fulltext not available.

Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Günter , Wenzel, Jörg , Größer, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina , Bygum, Anette , Altmüller, Janine, Rütten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nürnberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra and Betz, Regina C. (2014) Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. The American Journal of Human Genetics 94 (1), pp. 135-143. Fulltext not available.

Olbrich, Heike, Schmidts, Miriam , Werner, Claudius, Onoufriadis, Alexandros, Loges, Niki T., Raidt, Johanna, Banki, Nora Fanni, Shoemark, Amelia , Burgoyne, Tom , Al Turki, Saeed, Hurles, Matthew E., Köhler, Gabriele, Schroeder, Josef, Nürnberg, Gudrun, Nürnberg, Peter, Chung, Eddie M.K., Reinhardt, Richard , 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. The American Journal of Human Genetics 91 (4), pp. 672-684. Fulltext not available.

Brinckmann, Anja, Rüther, Klaus, Williamson, Kathleen, Lorenz, Birgit, Lucke, Barbara, Nürnberg, Peter, Trijbels, Frans, Janssen, Antoon and Schuelke, Markus (2007) De novo double mutation in PAX6 and mtDNA tRNA Lys associated with atypical aniridia and mitochondrial disease. Journal of Molecular Medicine 85 (2), pp. 163-168. Fulltext not available.

Broeckel, Ulrich, Hengstenberg, Christian, Mayer, Björn, Holmer, Stephan, Martin, Lisa J. , Comuzzie, Anthony G., Blangero, John, Nürnberg, Peter, Reis, André , Riegger, Günter A.J., Jacob, Howard J. and Schunkert, Heribert (2002) A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nature Genetics 30 (2), pp. 210-214. Fulltext not available.