Items where Author is "Nuernberg, Peter"

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Schmidt, Axel and Casadei, Nicolas and Brand, Fabian and Demidov, German and Vojgani, Elaheh and Abolhassani, Ayda and Aldisi, Rana and Butler-Laporte, Guillaume and Alawathurage, T. Madhusankha and Augustin, Max and Bals, Robert and Bellinghausen, Carla and Berger, Marc Moritz and Bitzer, Michael and Bode, Christian and Boos, Jannik and Brenner, Thorsten and Cornely, Oliver A. and Eggermann, Thomas and Erber, Johanna and Feldt, Torsten and Fuchsberger, Christian and Gagneur, Julien and Goepel, Siri and Haack, Tobias and Haeberle, Helene and Hanses, Frank and Heggemann, Julia and Hehr, Ute and Hellmuth, Johannes C. and Herr, Christian and Hinney, Anke and Hoffmann, Per and Illig, Thomas and Jensen, Bjoern-Erik Ole and Keitel, Verena and Kim-Hellmuth, Sarah and Koehler, Philipp and Kurth, Ingo and Lanz, Anna-Lisa and Latz, Eicke and Lehmann, Clara and Luedde, Tom and Maj, Carlo and Mian, Michael and Miller, Abigail and Muenchhoff, Maximilian and Pink, Isabell and Protzer, Ulrike and Rohn, Hana and Rybniker, Jan and Scaggiante, Federica and Schaffeldt, Anna and Scherer, Clemens and Schieck, Maximilian and Schmidt, Susanne V. and Schommers, Philipp and Spinner, Christoph D. and Vehreschild, Maria J. G. T. and Velavan, Thirumalaisamy P. and Volland, Sonja and Wilfling, Sibylle and Winter, Christof and Richards, J. Brent and Heimbach, Andre and Becker, Kerstin and Ossowski, Stephan and Schultze, Joachim L. and Nuernberg, Peter and Noethen, Markus M. and Motameny, Susanne and Nothnagel, Michael and Riess, Olaf and Schulte, Eva C. and Ludwig, Kerstin U. (2024) Systematic assessment of COVID-19 host genetics using whole genome sequencing data. PLOS PATHOGENS, 20 (12): e1012786. ISSN 1553-7366, 1553-7374

Nuzhat, Nafisa and Van Schil, Kristof and Liakopoulos, Sandra and Bauwens, Miriam and Rey, Alfredo Duenas and Kaeseberg, Stephan and Jaeger, Melanie and Willer, Jason R. and Winter, Jennifer and Truong, Hanh M. and Gruartmoner, Nuria and Van Heetvelde, Mattias and Wolf, Joachim and Merget, Robert and Grasshoff-Derr, Sabine and Van Dorpe, Jo and Hoorens, Anne and Stoehr, Heidi and Mansard, Luke and Roux, Anne-Francoise and Langmann, Thomas and Dannhausen, Katharina and Rosenkranz, David and Wissing, Karl M. and Van Lint, Michel and Rossmann, Heidi and Haeuser, Friederike and Nuernberg, Peter and Thiele, Holger and Zechner, Ulrich and Pearring, Jillian N. and 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): e161156. ISSN 0021-9738, 1558-8238

Kargapolova, Yulia and Rehimi, Rizwan and Kayserili, Huelya and Bruehl, Joanna and Sofiadis, Konstantinos and Zirkel, Anne and Palikyras, Spiros and Mizi, Athanasia and Li, Yun and Yigit, Goekhan and Hoischen, Alexander and Frank, Stefan and Russ, Nicole and Trautwein, Jonathan and van Bon, Bregje and Gilissen, Christian and Laugsch, Magdalena and Gusmao, Eduardo Gade and Josipovic, Natasa and Altmueller, Janine and Nuernberg, Peter and Laengst, Gernot and Kaiser, Frank J. and Watrin, Erwan and Brunner, Han and Rada-Iglesias, Alvaro and Kurian, Leo and Wollnik, Bernd and 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): 3014. ISSN 2041-1723,

Grassmann, Felix and Harsch, Sebastian and Brandl, Caroline and Kiel, Christina and Nuernberg, Peter and Toliat, Mohammad R. and Fleckenstein, Monika and Pfau, Maximilian and Schmitz-Valckenberg, Steffen and Holz, Frank G. and Chew, Emily Y. and Swaroop, Anand and Ratnapriya, Rinki and Klein, Michael L. and Mulyukov, Zufar and 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). pp. 867-876. ISSN 2168-6165, 2168-6173

Wagener, Rabea and Seufert, Julian and Raimondi, Francesco and Bens, Susanne and Kleinheinz, Kortine and Nagel, Inga and Altmueller, Janine and Thiele, Holger and Huebschmann, Daniel and Kohler, Christian W. and Nuernberg, Peter and Au-Yeung, Rex and Burkhardt, Birgit and Horn, Heike and Leoncini, Lorenzo and Jaffe, Elaine S. and Ott, German and Rymkiewicz, Grzegorz and Schlesner, Matthias and Russell, Robert B. and Klapper, Wolfram and Siebert, Reiner (2019) The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma. BLOOD, 133 (9). pp. 962-966. ISSN 0006-4971, 1528-0020

Hauke, Jan and Horvath, Judit and Gross, Eva and Gehrig, Andrea and Honisch, Ellen and Hackmann, Karl and Schmidt, Gunnar and Arnold, Norbert and Faust, Ulrike and Sutter, Christian and Hentschel, Julia and Wang-Gohrke, Shan and Smogavec, Mateja and Weber, Bernhard H. F. and Weber-Lassalle, Nana and Weber-Lassalle, Konstantin and Borde, Julika and Ernst, Corinna and Altmueller, Janine and Volk, Alexander E. and Thiele, Holger and Huebbel, Verena and Nuernberg, Peter and Keupp, Katharina and Versmold, Beatrix and Pohl, Esther and Kubisch, Christian and Grill, Sabine and Paul, Victoria and Herold, Natalie and Lichey, Nadine and Rhiem, Kerstin and Ditsch, Nina and Ruckert, Christian and Wappenschmidt, Barbara and Auber, Bernd and Rump, Andreas and Niederacher, Dieter and Haaf, Thomas and Ramser, Juliane and Dworniczak, Bernd and Engel, Christoph and Meindl, Alfons and 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. ISSN 2045-7634

Li, Man and Li, Yong and Weeks, Olivia and Mijatovic, Vladan and Teumer, Alexander and Huffman, Jennifer E. and Tromp, Gerard and Fuchsberger, Christian and Gorski, Mathias and Lyytikainen, Leo-Pekka and Nutile, Teresa and Sedaghat, Sanaz and Sorice, Rossella and Tin, Adrienne and Yang, Qiong and Ahluwalia, Tarunveer S. and Arking, Dan E. and Bihlmeyer, Nathan A. and Boeger, Carsten A. and Carroll, Robert J. and Chasman, Daniel I. and Comelis, Marilyn C. and Dehghan, Abbas and Faul, Jessica D. and Feitosa, Mary F. and Gambaro, Giovanni and Gasparini, Paolo and Giulianini, Franco and Heid, Iris and Huang, Jinyan and Imboden, Medea and Jackson, Anne U. and Jeff, Janina and Jhun, Min A. and Katz, Ronit and Kifley, Annette and Kilpelainen, Tuomas and Kumar, Ashish and Laakso, Markku and Li-Gao, Ruifang and Lohman, Kurt and Lu, Yingchang and Maegi, Reedik and Malerba, Giovanni and Mihailov, Evelin and Mohlke, Karen L. and Mook-Kanamori, Dennis O. and Robino, Antonietta and Ruderfer, Douglas and Salvi, Erika and Schick, Ursula M. and Schulz, Christina-Alexandra and Smith, Albert V. and Smith, Jennifer A. and Traglia, Michela and Yerges-Armstrong, Laura M. and Zhao, Wei and Goodarzi, Mark O. and Kraja, Aldi T. and Liu, Chunyu and Wessel, Jennifer and Boerwinkle, Eric and Borecki, Ingrid B. and Bork-Jensen, Jette and Bottinger, Erwin P. and Braga, Daniele and Brandslund, Ivan and Brody, Jennifer A. and Campbell, Archie and Carey, David J. and Christensen, Cramer and Coresh, Josef and Crook, Errol and Curhan, Gary C. and Cusi, Daniele and de Boer, Ian H. and de Vries, Aiko P. J. and Denny, Joshua C. and Devuyst, Olivier and Dreisbach, Albert W. and Endlich, Karlhans and Esko, Tonu and Franco, Oscar H. and Fulop, Tibor and Gerhard, Glenn S. and Gluemer, Charlotte and Gottesman, Omri and Grarup, Niels and Gudnason, Vilmundur and Hansen, Torben and Harris, Tamara B. and Hayward, Caroline and Hocking, Lynne and Hofman, Albert and Hu, Frank B. and Husemoen, Lise Lotte N. and Jackson, Rebecca D. and Jorgensen, Torben and Jorgensen, Marit E. and Kaehoenen, Mika and Kardia, Sharon L. R. and Koenig, Wolfgang and Kooperberg, Charles and Kriebel, Jennifer and Launer, Lenore J. and Lauritzen, Torsten and Lehtimaki, Terho and Levy, Daniel and Linksted, Pamela and Linneberg, Allan and Liu, Yongmei and Loos, Ruth J. F. and Lupo, Antonio and Meisinger, Christine and Melander, Olle and Metspalu, Andres and Mitchell, Paul and Nauck, Matthias and Nuernberg, Peter and Orho-Melander, Marju and Parsa, Afshin and Pedersen, Oluf and Peters, Annette and Peters, Ulrike and Polasek, Ozren and Porteous, David and Probst-Hensch, Nicole M. and Psaty, Bruce M. and Qi, Lu and Raitakari, Olli T. and Reiner, Alex P. and Rettig, Rainer and Ridker, Paul M. and Rivadeneira, Fernando and Rossouw, Jacques E. and Schmidt, Frank and Siscovick, David and Soranzo, Nicole and Strauch, Konstantin and Toniolo, Daniela and Turner, Stephen T. and Uitterlinden, Andre G. and Ulivi, Sheila and Velayutham, Dinesh and Voelker, Uwe and Volzke, Henry and Waldenberger, Melanie and Wang, Jie Jin and Weir, David R. and Witte, Daniel and Kuivaniemi, Helena and Fox, Caroline S. and Franceschini, Nora and Goessling, Wolfram and Koettgen, Anna and Chu, Audrey Y. (2017) 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. ISSN 1046-6673, 1533-3450

Basmanav, F. Buket and Oprisoreanu, Ana-Maria and Pasternack, Sandra M. and Thiele, Holger and Fritz, Guenter and Wenzel, Joerg and Groesser, Leopold and Wehner, Maria and Wolf, Sabrina and Fagerberg, Christina and Bygum, Anette and Altmueller, Janine and Ruetten, Arno and Parmentier, Laurent and El Shabrawi-Caelen, Laila and Hafner, Christian and Nuernberg, Peter and Kruse, Roland and Schoch, Susanne and Hanneken, Sandra and Betz, Regina C. (2014) Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. AMERICAN JOURNAL OF HUMAN GENETICS, 94 (1). pp. 135-143. ISSN 0002-9297, 1537-6605

Olbrich, Heike and Schmidts, Miriam and Werner, Claudius and Onoufriadis, Alexandros and Loges, Niki T. and Raidt, Johanna and Banki, Nora Fanni and Shoemark, Amelia and Burgoyne, Tom and Al Turki, Saeed and Hurles, Matthew E. and Koehler, Gabriele and Schroeder, Josef and Nuernberg, Gudrun and Nuernberg, Peter and Chung, Eddie M. K. and Reinhardt, Richard and Marthin, June K. and Nielsen, Kim G. and Mitchison, Hannah M. and Omran, Heymut (2012) Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry. AMERICAN JOURNAL OF HUMAN GENETICS, 91 (4). pp. 672-684. ISSN 0002-9297

Krumbiegel, Mandy and Pasutto, Francesca and Schloetzer-Schrehardt, Ursula and Uebe, Steffen and Zenkel, Matthias and Mardin, Christian Y. and Weisschuh, Nicole and Paoli, Daniela and Gramer, Eugen and Becker, Christian and Ekici, Arif B. and Weber, Bernhard H. F. and Nuernberg, Peter and Kruse, Friedrich E. and Reis, Andre (2011) Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS, 19 (2). pp. 186-193. ISSN 1018-4813

Neidhardt, John and Glaus, Esther and Lorenz, Birgit and Netzer, Christian and Li, Yuen and Schambeck, Maria and Wittmer, Mariana and Feil, Silke and Kirschner-Schwabe, Renate and Rosenberg, Thomas and Cremers, Frans P. M. and Bergen, Arthur A. B. and Barthelmes, Daniel and Baraki, Husnia and Schmid, Fabian and Tanner, Gaby and Fleischhauer, Johannes and Orth, Ulrike and Becker, Christian and Wegscheider, Erika and Nuernberg, Gudrun and Nuernberg, Peter and Bolz, Hanno Joern and Gal, Andreas and Berger, Wolfgang (2008) Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. MOLECULAR VISION, 14 (129). pp. 1081-1093. ISSN 1090-0535

Brinckmann, Anja and Ruether, Klaus and Williamson, Kathleen and Lorenz, Birgit and Lucke, Barbara and Nuernberg, Peter and Trijbels, Frans and 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-JMM, 85 (2). pp. 163-168. ISSN 0946-2716

Broeckel, Ulrich and Hengstenberg, Christian and Mayer, Bjoern and Holmer, Stephan and Martin, Lisa J. and Comuzzie, Anthony G. and Blangero, John and Nuernberg, Peter and Reis, Andre and Riegger, Guenter A. J. and 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. ISSN 1061-4036