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Veröffentlichungsdatum
Anzahl der Publikationen: 9
2022
Schmidt, Julia; Dreha-Kulaczewski, Steffi; Zafeiriou, Maria-Patapia; Schreiber, Marie-Kristin; Wilken, Bernd; Funke, Rudolf; Neuhofer, Christiane M.; Altmueller, Janine; Thiele, Holger; Nuernberg, Peter; Biskup, Saskia; Li, Yun; Zimmermann, Wolfram Hubertus; Kaulfuss, Silke; Yigit, Goekhan und Wollnik, Bernd
(2022):
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
In: Frontiers in Cell and Developmental Biology, Bd. 10, 1025332
2021
Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; Ridder, Willem de; Winter, Jonathan de; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; Warrenburg, Bart P. van de; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M.; Lewis, Richard A.; Millan, Francisca; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schols, Ludger; Nuernberg, Peter; Nürnberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark und Senderek, Jan
(2021):
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
In: Brain, Bd. 144: S. 1422-1434
2019
Hauke, Jan; Hahnen, Eric; Schneider, Stephanie; Reuss, Alexander; Richters, Lisa; Kommoss, Stefan; Heimbach, Andre; Marme, Frederik; Schmidt, Sandra; Prieske, Katharina; Gevensleben, Heidrun; Burges, Alexander; Borde, Julika; De Gregorio, Nikolaus; Nuernberg, Peter; El-Balat, Ahmed; Thiele, Holger; Hilpert, Felix; Altmüller, Janine; Meier, Werner; Dietrich, Dimo; Kimmig, Rainer; Schoemig-Markiefka, Birgid; Kast, Karin; Braicu, Elena Ioana; Baumann, Klaus; Jackisch, Christian; Park-Simon, Tjoung-Won; Ernst, Corinna; Hanker, Lars; Pfisterer, Jacobus; Schnelzer, Andreas; du Bois, Andreas; Schmutzler, Rita K. und Harter, Philipp
(2019):
Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
In: Journal of Medical Genetics, Bd. 56, Nr. 9: S. 574-580
[PDF, 705kB]
Weber-Lassalle, Nana; Borde, Julika; Weber-Lassalle, Konstantin; Horvath, Judit; Niederacher, Dieter; Arnold, Norbert; Kaulfuss, Silke; Ernst, Corinna; Paul, Victoria G.; Honisch, Ellen; Klaschik, Kristina; Volk, Alexander E.; Kubisch, Christian; Rapp, Steffen; Lichey, Nadine; Altmüller, Janine; Lepkes, Louisa; Pohl-Rescigno, Esther; Thiele, Holger; Nuernberg, Peter; Larsen, Mirjam; Richters, Lisa; Rhiem, Kerstin; Wappenschmidt, Barbara; Engel, Christoph; Meindl, Alfons; Schmutzler, Rita K.; Hahnen, Eric und Hauke, Jan
(2019):
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
In: Breast Cancer Research, Bd. 21, 55
2018
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; Huebbel, Verena; Nuernberg, 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. und 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.
In: Cancer Medicine, Bd. 7, Nr. 4: S. 1349-1358
Abou-Khalil, Bassel; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Balding, David J.; Bast, Thomas; Baum, Larry; Becker, Albert J.; Becker, Felicitas; Berghuis, Bianca; Berkovic, Samuel F.; Boysen, Katja E.; Bradfield, Jonathan P.; Brody, Lawrence C.; Buono, Russell J.; Campbell, Ellen; Cascino, Gregory D.; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cherny, Stacey S.; Chinthapalli, Krishna; Coffey, Alison J.; Compston, Alastair; Coppola, Antonietta; Cossette, Patrick; Craig, John J.; Haan, Gerrit-Jan de; Jonghe, Peter de; Kovel, Carolien G. F. de; Delanty, Norman; Depondt, Chantal; Devinsky, Orrin; Dlugos, Dennis J.; Doherty, Colin P.; Elger, Christian E.; Eriksson, Johan G.; Ferraro, Thomas N.; Feucht, Martha; Francis, Ben; Franke, Andre; French, Jacqueline A.; Freytag, Saskia; Gaus, Verena; Geller, Eric B.; Gieger, Christian; Glauser, Tracy; Glynn, Simon; Goldstein, David B.; Gui, Hongsheng; Guo, Youling; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Haut, Sheryl; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Hjalgrim, Helle; Iacomino, Michele; Ingason, Andres; Jamnadas-Khoda, Jennifer; Johnson, Michael R.; Kalviainen, Reetta; Kantanen, Anne-Mari; Kasperaviciute, Dalia; Kasteleijn-Nolst Trenité, Dorothée; Kirsch, Heidi E.; Knowlton, Robert C.; Koeleman, Bobby P. C.; Krause, Roland; Krenn, Martin; Kunz, Wolfram S.; Kuzniecky, Ruben; Kwan, Patrick; Lal, Dennis; Lau, Yu-Lung; Lehesjoki, Anna-Elina; Lerche, Holger; Leu, Costin; Lieb, Wolfgang; Lindhout, Dick; Lo, Warren D.; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Malovini, Alberto; Marson, Anthony G.; Mayer, Thomas; McCormack, Mark; Mills, James L.; Mirza, Nasir; Moerzinger, Martina; Moller, Rikke S.; Molloy, Anne M.; Muhle, Hiltrud; Newton, Mark; Ng, Ping-Wing; Nöthen, Markus M.; Nuernberg, Peter; O'Brien, Terence J.; Oliver, Karen L.; Palotie, Aarno; Pangilinan, Faith; Peter, Sarah; Petrovski, Slave; Poduri, Annapurna; Privitera, Michael; Radtke, Rodney; Rau, Sarah; Reif, Philipp S.; Reinthaler, Eva M.; Rosenow, Felix; Sander, Josemir W.; Sander, Thomas; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Sham, Pak C.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Slattery, Lisa; Smith, Alexander; Smith, David F.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Steinhoff, Bernhard J.; Stephani, Ulrich; Stevelink, Remi; Strauch, Konstantin; Striano, Pasquale; Stroink, Hans; Surges, Rainer; Tan, K. Meng; Thio, Liu Lin; Thomas, G. Neil; Todaro, Marian; Tozzi, Rossana; Vari, Maria S.; Vining, Eileen P. G.; Visscher, Frank; Spiczak, Sarah von; Walley, Nicole M.; Weber, Yvonne G.; Wei, Zhi; Weisenberg, Judith; Whelan, Christopher D.; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Yang, Wanling; Zara, Federico und Zimprich, Fritz
(2018):
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
In: Nature Communications, Bd. 9, 5269
[PDF, 1MB]
Linnekamp, Janneke F.; Hooff, Sander R. van; Prasetyanti, Pramudita R.; Kandimalla, Raju; Buikhuisen, Joyce Y.; Fessler, Evelyn; Ramesh, Prashanthi; Lee, Kelly A. S. T.; Bochove, Grehor G. W.; Jong, Johan H. de; Cameron, Kate; Leersum, Ronald van; Rodermond, Hans M.; Franitza, Marek; Nuernberg, Peter; Mangiapane, Laura R.; Wang, Xin; Clevers, Hans; Vermeulen, Louis; Stassi, Giorgio und Medema, Jan Paul
(2018):
Consensus molecular subtypes of colorectal cancer are recapitulated in in vitro and in vivo models.
In: Cell Death and Differentiation, Bd. 25, Nr. 3: S. 616-633
2017
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.; Comelis, 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; 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; Boer, Ian H. de; Vries, Aiko P. J. de; Denny, Joshua C.; Devuyst, Olivier; Dreisbach, Albert W.; Endlich, Karlhans; Esko, Tonu; Franco, Oscar H.; Fulop, Tibor; Gerhard, Glenn S.; Gluemer, 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.; Jorgensen, Torben; Jørgensen, Marit E.; Kähönen, Mika; Kardia, Sharon L. R.; König, Wolfgang; Kooperberg, Charles; Kriebel, Jennifer; Launer, Lenore J.; Lauritzen, Torsten; Lehtimaki, 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; Nuernberg, 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 und Chu, Audrey Y.
(2017):
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.
In: Journal of the American Society of Nephrology, Bd. 28, Nr. 3: S. 981-994
2015
Lal, Dennis; Ruppert, Ann-Kathrin; Trucks, Holger; Schulz, Herbert; Kovel, Carolien G. de; Kasteleijn-Nolst Trenité, Dorothée; Sonsma, Anja C. M.; Koeleman, Bobby P.; Lindhout, Dick; Weber, Yvonne G.; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J.; Kunz, Wolfram S.; Surges, Rainer; Elger, Christian E.; Gaus, Verena; Schmitz, Bettina; Helbig, Ingo; Muhle, Hiltrud; Stephani, Ulrich; Klein, Karl M.; Rosenow, Felix; Neubauer, Bernd A.; Reinthaler, Eva M.; Zimprich, Fritz; Feucht, Martha; Møller, Rikke S.; Hjalgrim, Helle; De Jonghe, Peter; Suls, Arvid; Lieb, Wolfgang; Franke, Andre; Strauch, Konstantin; Gieger, Christian; Schurmann, Claudia; Schminke, Ulf; Nuernberg, Peter und Sander, Thomas
(2015):
Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies.
In: PLOS Genetics 11(5), UNSP e1005226 [PDF, 356kB]
In: PLOS Genetics 11(5), UNSP e1005226 [PDF, 356kB]