Not logged in De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders Brunet, Theresa; Zech, Michael; Schatz, Ulrich A.; Adamovicova, Miriam; Wagner, Matias; Graf, Elisabeth; Berutti, Riccardo; Weigand, Heike; Jech, Robert; Meitinger, Thomas; Winkelmann, Juliane; Brugger, Melanie Share Save
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Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun Share Save
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction Schormair, Barbara; Zhao, Chen; Bell, Steven; Didriksen, Maria; Nawaz, Muhammad S.; Schandra, Nathalie; Stefani, Ambra; Hoegl, Birgit; Dauvilliers, Yves; Bachmann, Cornelius G.; Kemlink, David; Sonka, Karel; Paulus, Walter; Trenkwalder, Claudia; Oertel, Wolfgang H.; Hornyak, Magdolna; Teder-Laving, Maris; Metspalu, Andres; Hadjigeorgiou, Georgios M.; Polo, Olli; Fietze, Ingo; Ross, Owen A.; Wszolek, Zbigniew K.; Ibrahim, Abubaker; Bergmann, Melanie; Kittke, Volker; Harrer, Philip; Dowsett, Joseph; Chenini, Sofiene; Ostrowski, Sisse Rye; Sorensen, Erik; Erikstrup, Christian; Pedersen, Ole B.; Bruun, Mie Topholm; Nielsen, Kaspar R.; Butterworth, Adam S.; Soranzo, Nicole; Ouwehand, Willem H.; Roberts, David J.; Danesh, John; Burchell, Brendan; Furlotte, Nicholas A.; Nandakumar, Priyanka; Earley, Christopher J.; Ondo, William G.; Xiong, Lan; Desautels, Alex; Perola, Markus; Vodicka, Pavel; Dina, Christian; Stoll, Monika; Franke, Andre; Lieb, Wolfgang; Stewart, Alexandre F. R.; Shah, Svati H.; Gieger, Christian; Peters, Annette; Rye, David B.; Rouleau, Guy A.; Berger, Klaus; Stefansson, Hreinn; Ullum, Henrik; Stefansson, Kari; Hinds, David A.; Di Angelantonio, Emanuele; Oexle, Konrad; Winkelmann, Juliane Share Save
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders Indelicato, Elisabetta; Romito, Luigi Michele; Harrer, Philip; Andreasi, Nico Golfre; Colangelo, Isabel; Kopajtich, Robert; Winkelmann, Juliane; Prokisch, Holger; Garavaglia, Barbara; Zech, Michael Share Save
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L.; Zott, Benedikt; Sekulic, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; Morgia, Chiara La; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sorensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Jamra, Rami Abou; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco; Wagner, Matias Share Save
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity Harrer, Philip; Inderhees, Julica; Zhao, Chen; Schormair, Barbara; Tilch, Erik; Gieger, Christian; Peters, Annette; Joehren, Olaf; Fleming, Thomas; Nawroth, Peter P.; Berger, Klaus; Hermesdorf, Marco; Winkelmann, Juliane; Schwaninger, Markus; Oexle, Konrad Share Save
Epigenome-wide association study of dietary fatty acid intake de Luna, Julia Lange; Nounu, Aayah; Neumeyer, Sonja; Sinke, Lucy; Wilson, Rory; Hellbach, Fabian; Matias-Garcia, Pamela R.; Delerue, Thomas; Winkelmann, Juliane; Peters, Annette; Thorand, Barbara; Beekman, Marian; Heijmans, Bastiaan T.; Slagboom, Eline; Gieger, Christian; Linseisen, Jakob; Waldenberger, Melanie Share Save
A patient-enriched MEIS1 coding variant causes a restless legs syndrome-like phenotype in mice Leu, Chia-Luen; Lam, Daniel D.; Salminen, Aaro, V; Wefers, Benedikt; Becker, Lore; Garrett, Lillian; Rozman, Jan; Wurst, Wolfgang; de Angelis, Martin Hrabe; Hoelter, Sabine M.; Winkelmann, Juliane; Williams, Rhiannan H. Share Save
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Usual dietary intake and change in DNA methylation over years: EWAS in KORA FF4 and KORA fit Hellbach, Fabian; Freuer, Dennis; Meisinger, Christa; Peters, Annette; Winkelmann, Juliane; Costeira, Ricardo; Hauner, Hans; Baumeister, Sebastian-Edgar; Bell, Jordana T.; Waldenberger, Melanie; Linseisen, Jakob Share Save
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Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction Harrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, Friederike; Thomsen, Mirja; Mandel, Vanessa; Svorenova, Tatiana; Ostrozovicova, Miriam; Kulcsarova, Kristina; Berutti, Riccardo; Busch, Hauke; Ott, Fabian; Kopajtich, Robert; Prokisch, Holger; Kumar, Kishore R.; Mencacci, Niccolo E.; Kurian, Manju A.; Di Fonzo, Alessio; Boesch, Sylvia; Kuehn, Andrea A.; Bluemlein, Ulrike; Lohmann, Katja; Haslinger, Bernhard; Weise, David; Jech, Robert; Winkelmann, Juliane; Zech, Michael Share Save
Episignature analysis of moderate effects and mosaics Oexle, Konrad; Zech, Michael; Stuehn, Lara G.; Siegert, Sandy; Brunet, Theresa; Schmidt, Wolfgang M.; Wagner, Matias; Schmidt, Axel; Engels, Hartmut; Tilch, Erik; Monestier, Olivier; Destree, Anne; Hanker, Britta; Boesch, Sylvia; Jech, Robert; Berutti, Riccardo; Kaiser, Frank; Haslinger, Bernhard; Haack, Tobias B.; Garavaglia, Barbara; Krawitz, Peter; Winkelmann, Juliane; Mirza-Schreiber, Nazanin Share Save
Epigenetic Association Analyses and Risk Prediction of RLS Harrer, Philip; Mirza-Schreiber, Nazanin; Mandel, Vanessa; Roeber, Sigrun; Stefani, Ambra; Naher, Shamsun; Wagner, Matias; Gieger, Christian; Waldenberger, Melanie; Peters, Annette; Hoegl, Birgit; Herms, Jochen; Schormair, Barbara; Zhao, Chen; Winkelmann, Juliane; Oexle, Konrad Share Save
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies Smallwood, Kelly; Watt, Kristin E. N.; Ide, Satoru; Baltrunaite, Kristina; Brunswick, Chad; Inskeep, Katherine; Capannari, Corrine; Adam, Margaret P.; Begtrup, Amber; Bertola, Debora R.; Demmer, Laurie; Demo, Erin; Devinsky, Orrin; Gallagher, Emily R.; Sacoto, Maria J. Guillen; Jech, Robert; Keren, Boris; Kussmann, Jennifer; Ladda, Roger; Lansdon, Lisa A.; Lunke, Sebastian; Mardy, Anne; McWalters, Kirsty; Person, Richard; Raiti, Laura; Saitoh, Noriko; Saunders, Carol J.; Schnur, Rhonda; Skorvanek, Matej; Sell, Susan L.; Slavotinek, Anne; Sullivan, Bonnie R.; Stark, Zornitza; Symonds, Joseph D.; Wenger, Tara; Weber, Sacha; Whalen, Sandra; White, Susan M.; Winkelmann, Juliane; Zech, Michael; Zeidler, Shimriet; Maeshima, Kazuhiro; Stottmann, Rolf W.; Trainor, Paul A.; Weaver, K. Nicole Share Save
Variants in ATP5F1B are associated with dominantly inherited dystonia Nasca, Alessia; Mencacci, Niccolo E.; Invernizzi, Federica; Zech, Michael; Sarmiento, Ignacio J. Keller; Legati, Andrea; Frascarelli, Chiara; Bustos, Bernabe, I; Romito, Luigi M.; Krainc, Dimitri; Winkelmann, Juliane; Carecchio, Miryam; Nardocci, Nardo; Zorzi, Giovanna; Prokisch, Holger; Lubbe, Steven J.; Garavaglia, Barbara; Ghezzi, Daniele Share Save
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