부산대학교 도서관

Chen, SW; Francioli, LC; Goodrich, JK; Collins, RL; Kanai, M; Wang, QB; Alfoldi, J; Watts, NA; Vittal, C; Gauthier, LD; Poterba, T; Wilson, MW; Tarasova, Y; Phu, W; Grant, R; Yohannes, MT; Koenig, Z; Farjoun, Y; Banks, E; Donnelly, S; Gabriel, S; Gupta, N; Ferriera, S; Tolonen, C; Novod, S; Bergelson, L; Roazen, D; Ruano-Rubio, V; Covarrubias, M; Llanwarne, C; Petrillo, N; Wade, G; Jeandet, T; Munshi, R; Tibbetts, K; O'Donnell-Luria, A; Solomonson, M; Seed, C; Martin, AR; Talkowski, ME; Rehm, HL; Daly, MJ; Tiao, G; Neale, BM; MacArthur, DG; Karczewski, KJ; Abreu, M; Salinas, CAA; Ahmad, T; Albert, CM; Ardissino, D; Armean, IM; Atkinson, EG; Atzmon, G; Barnard, J; Baxter, SM; Beaugerie, L; Benjamin, EJ; Benjamin, D; Boehnke, M; Bonnycastle, LL; Bottinger, EP; Bowden, DW; Bown, MJ; Brand, H; Brant, S; Brookings, T; Bryant, S; Calvo, SE; Campos, H; Chambers, JC; Chan, JC; Chao, KR; Chapman, S; Chasman, DI; Chisholm, R; Cho, J; Chowdhury, R; Chung, MK; Chung, WK; Cibulskis, K; Cohen, B; Connolly, KM; Correa, A; Cummings, BB; Dabelea, D; Danesh, J; Darbar, D; Darnowsky, P; Denny, J; Duggirala, R; Dupuis, J; Ellinor, PT; Elosua, R; Emery, J; England, E; Erdmann, J; Esko, T; Evangelista, E; Fatkin, D; Florez, J; Franke, A; Fu, J; Farkkila, M; Garimella, K; Gentry, J; Getz, G; Glahn, DC; Glaser, B; Glatt, SJ; Goldstein, D; Gonzalez, C; Groop, L; Gudmundsson, S; Haessly, A; Haiman, C; Hall, I; Hanis, CL; Harms, M; Hiltunen, M; Holi, MM; Hultman, CM; Jalas, C; Kallela, M; Kaplan, D; Kaprio, J; Kathiresan, S; Kenny, EE; Kim, BJ; Kim, YJ; King, D; Kirov, G; Kooner, J; Koskinen, S; Krumholz, HM; Kugathasan, S; Kwak, SH; Laakso, M; Lake, N; Langsford, T; Laricchia, KM; Lehtimaki, T; Lek, M; Lipscomb, E; Loos, RJF; Lu, WH; Lubitz, SA; Luna, TT; Ma, RCW; Marcus, GM; Marrugat, J; Mattila, KM; McCarroll, S; McCarthy, MI; McCauley, JL; McGovern, D; McPherson, R; Meigs, JB; Melander, O; Metspalu, A; Meyers, D; Minikel, EV; Mitchell, BD; Mootha, VK; Naheed, A; Nazarian, S; Nilsson, PM; O'Donovan, MC; Okada, Y; Ongur, D; Orozco, L; Owen, MJ; Palmer, C; Palmer, ND; Palotie, A; Park, KS; Pato, C; Pulver, AE; Rader, D; Rahman, N; Reiner, A; Remes, AM; Rhodes, D; Rich, S; Rioux, JD; Ripatti, S; Roden, DM; Rotter, JI; Sahakian, N; Saleheen, D; Salomaa, V; Saltzman, A; Samani, NJ; Samocha, KE; Sanchis-Juan, A; Scharf, J; Schleicher, M; Schunkert, H; Schonherr, S; Seaby, EG; Shah, SH; Shand, M; Sharpe, T; Shoemaker, MB; Shyong, T; Silverman, EK; Singer-Berk, M; Sklar, P; Smith, JT; Smith, JG; Soininen, H; Sokol, H; Son, RG; Soto, J; Spector, T; Stevens, C; Stitziel, NO; Sullivan, PF; Suvisaari, J; Tai, ES; Taylor, KD; Teo, YY; Tsuang, M; Tuomi, T; Turner, D; Tusie-Luna, T; Vartiainen, E; Vawter, M; Wang, L; Wang, A; Ware, JS; Watkins, H; Weersma, RK; Weisburd, B; Wessman, M; Whiffin, N; Wilson, JG; Xavier, RJ

Nature. 625(7993):92-100

Whiffin, N; Armean, IM; Kleinman, A; Marshall, JL; Minikel, EV; Goodrich, JK; Quaife, NM; Cole, JB; Wang, QB; Karczewski, KJ; Cummings, BB; Francioli, L; Laricchia, K; Guan, AN; Alipanahi, B; Morrison, P; Baptista, MAS; Merchant, KM; Banks, E; Bergelson, L; Cibulskis, K; Collins, RL; Connolly, KM; Covarrubias, M; Cummings, B; Daly, MJ; Donnelly, S; Farjoun, Y; Ferriera, S; Gabriel, S; Gauthier, LD; Gentry, J; Gupta, N; Jeandet, T; Kaplan, D; Laricchia, KM; Llanwarne, C; Munshi, R; Neale, BM; Novod, S; O'Donnell-Luria, AH; Petrillo, N; Poterba, T; Roazen, D; Ruano-Rubio, V; Saltzman, A; Samocha, KE; Schleicher, M; Seed, C; Solomonson, M; Soto, J; Tiao, GC; Tibbetts, K; Tolonen, C; Vittal, C; Wade, G; Wang, AR; Watts, NA; Weisburd, B; Aguilar-Salinas, CA; Ahmad, T; Albert, CM; Ardissino, D; Atzmon, G; Barnard, J; Beaugerie, L; Benjamin, EJ; Boehnke, M; Bonnycastle, LL; Bottinger, EP; Bowden, DW; Bown, MJ; Chambers, JC; Chan, JAC; Chasman, D; Cho, J; Chung, MAK; Cohen, B; Correa, A; Dabelea, D; Darbar, D; Duggirala, R; Dupuis, J; Ellinor, PT; Elosua, R; Erdmann, J; Farkkila, M; Florez, J; Franke, A; Getz, G; Glaser, B; Glatt, SJ; Goldstein, D; Gonzalez, C; Groop, L; Haiman, C; Hanis, C; Harms, M; Hiltunen, M; Holi, MM; Hultman, CM; Kallela, M; Kaprio, J; Kathiresan, S; Kim, BJ; Kim, YJ; Kirov, G; Kooner, J; Koskinen, S; Krumholz, HM; Kugathasan, S; Kwak, SH; Laakso, M; Lehtimaki, T; Loos, RJF; Lubitz, SA; Ma, RCW; MacArthur, DG; Marrugat, J; Mattila, KM; McCarroll, S; McCarthy, MI; McGovern, D; McPherson, R; Meigs, JB; Melander, O; Metspalu, A; Nilsson, PM; O'Donovan, MC; Ongur, D; Orozco, L; Owen, MJ; Palmer, CNA; Palotie, A; Park, KS; Pato, C; Pulver, AE; Rahman, N; Remes, AM; Riou, JD; Ripatti, S; Roden, DM; Saleheen, D; Salomaa, V; Samani, NJ; Scharf, J; Schunkert, H; Shoemaker, MB; Sklar, P; Soininen, H; Sokol, H; Spector, T; Sullivan, PF; Suvisaari, J; Tai, ES; Teo, YY; Tiinamaija, T; Tsuang, M; Turner, D; Tusie-Luna, T; Vartiainen, E; Vawter, MP; Ware, JS; Watkins, H; Weersma, RK; Wessman, M; Wilson, JG; Xavier, RJ; Havulinna, AS; Iliadou, B; Lee, JJ; Nadkarni, GN; Whiteman, C; Agee, M; Auton, A; Bell, RK; Bryc, K; Elson, SL; Fontanillas, P; Furlotte, NA; Hicks, B; Hinds, DA; Huber, KE; Jewett, EM; Jiang, YN; Lin, KH; Litterman, NK; McIntyre, MH; McManus, KF; Mountain, JL; Noblin, ES; Northover, CAM; Pitts, SJ; Poznik, GD; Sathirapongsasuti, JF; Shelton, JF; Shringarpure, S; Tian, C; Tung, JYY; Vacic, V; Wang, X; Wilson, CH; Daly, M; Esko, T; Hultman, C; Milani, L; Pato, M; Alfoldi, J; Cannon, P

Nature medicine. 27(2):355-355

Whiffin, N; Armean, IM; Kleinman, A; Marshall, JL; Minikel, EV; Goodrich, JK; Quaife, NM; Cole, JB; Wang, Q; Karczewski, KJ; Cummings, BB; Francioli, L; Laricchia, K; Guan, A; Alipanahi, B; Morrison, P; Baptista, MAS; Merchant, KM; Ware, JS; Havulinna, AS; Iliadou, B; Lee, JJ; Nadkarni, GN; Whiteman, C; Daly, M; Esko, T; Hultman, C; Loos, RJF; Milani, L; Palotie, A; Pato, C; Pato, M; Saleheen, D; Sullivan, PF; Alföldi, J; Cannon, P; MacArthur, DG

Nature medicine. 26(6):869-877

Chao KR; Wang L; Panchal R; Liao C; Abderrazzaq H; Ye R; Schultz P; Compitello J; Grant RH; Kosmicki JA; Weisburd B; Phu W; Wilson MW; Laricchia KM; Goodrich JK; Goldstein D; Goldstein JI; Vittal C; Poterba T; Baxter S; Watts NA; Solomonson M; Tiao G; Rehm HL; Neale BM; Talkowski ME; MacArthur DG; O'Donnell-Luria A; Karczewski KJ; Radivojac P; Daly MJ; Samocha KE

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. ana.topf@ncl.ac.uk.; Cox D; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Zaharieva IT; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Di Leo V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Department of Life Sciences, University of Trieste, Trieste, Italy.; Sarparanta J; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Jonson PH; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Sealy IM; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.; Smolnikov A; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.; White RJ; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.; Vihola A; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland.; Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Merteroglu M; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Laboratory of Angiogenesis and Cancer Metabolism, Department of Biology, University of Padua, Padua, Italy.; Wali N; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Venturini C; Division of Infection and Immunity, University College London, London, UK.; Vroling B; Bio-Prodict, Nijmegen, The Netherlands.; Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Cummings BB; Laboratory of Angiogenesis and Cancer Metabolism, Department of Biology, University of Padua, Padua, Italy.; Harris E; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, UK.; Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Henderson M; Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Barresi R; IRCCS San Camillo Hospital, Venice, Italy.; Duff J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Patrick J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Al-Husayni S; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Biancalana V; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France.; Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Bodi I; Department of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, UK.; Bommireddipalli S; Kids Neuroscience Centre, the Children's Hospital at Westmead, the University of Sydney and the Children's Medical Research Institute, Westmead, New South Wales, Australia.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Cairns A; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia.; Chiew MT; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.; Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.; Cooper ST; Kids Neuroscience Centre, the Children's Hospital at Westmead, the University of Sydney and the Children's Medical Research Institute, Westmead, New South Wales, Australia.; Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Erasmus CE; Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen, The Netherlands.; Fassad MR; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Grosmann C; Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA, USA.; Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Lornage X; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France.; Löscher WN; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Malfatti E; APHP, Neuromuscular Reference Center Nord-Est-Ile-de-France, Henri Mondor Hospital, Université Paris Est, U955, INSERM, Creteil, France.; Manzur A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Martí P; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain.; Mongini TE; Department of Neurosciences Rita Levi Montalcini, Università degli Studi di Torino, Torino, Italy.; Muelas N; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain.; Department of Medicine, Universitat de Valencia, Valencia, Spain.; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Valencia, Spain.; Nishikawa A; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Ogonuki N; RIKEN BioResource Research Center, Tsukuba, Japan.; O'Grady GL; Starship Children's Health, Auckland District Health Board, Auckland, New Zealand.; O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Paquay S; Cliniques Universitaires St-Luc, Centre de Référence Neuromusculaire, Université de Louvain, Brussels, Belgium.; Phadke R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Pletcher BA; Division of Clinical Genetics, Department of Pediatrics, Rutgers New Jersey Medical School, Newark, NJ, USA.; Romero NB; Neuromuscular Morphology Unit, Myology Institute, Sorbonne Université, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France (APHP), GH Pitié-Salpêtrière, Paris, France.; Schouten M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Shah S; Department of Neurology, Perth Children's Hospital, Nedlands, Western Australia, Australia.; Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.; Sznajer Y; Center for Human Genetic, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Tasca G; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Tuite A; Division of Clinical Genetics, Department of Pediatrics, Rutgers New Jersey Medical School, Newark, NJ, USA.; Van den Bergh P; Cliniques Universitaires St-Luc, Centre de Référence Neuromusculaire, Université de Louvain, Brussels, Belgium.; VanNoy G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.; Wanschitz JV; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Wraige E; Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Yoshimura K; Department Neurology, Nankoku Hospital, Kochi, Japan.; Oates EC; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.; Nakagawa O; Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.; Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France.; Vilchez JJ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Cordell HJ; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Udd B; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland.; Busch-Nentwich EM; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.; Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, UCL & Great Ormond Street Hospital Trust, London, UK.; Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. volker.straub@ncl.ac.uk.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Lee AS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Ayers LJ; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Kosicki M; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA.; Chan WM; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Howard Hughes Medical Institute, Chevy Chase, MD.; Fozo LN; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Pratt BM; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Collins TE; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Zhao B; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Rose MF; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Department of Pathology, Boston Children's Hospital, Boston, MA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.; Medical Genetics Training Program, Harvard Medical School, Boston, MA.; Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Fu JM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA.; Wong I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Zhao X; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA.; Tenney AP; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Lee C; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Harvard College, Cambridge, MA.; Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Barry BJ; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Howard Hughes Medical Institute, Chevy Chase, MD.; Bradford VR; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Lee EA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Department of Genetics, Harvard Medical School, Boston, MA.; Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA.; Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA.; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA.; Pennacchio LA; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA.; Engle EC; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Howard Hughes Medical Institute, Chevy Chase, MD.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Medical Genetics Training Program, Harvard Medical School, Boston, MA.; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, MA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Laricchia KM; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Lake NJ; Yale School of Medicine, New Haven, Connecticut 06510, USA.; Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Watts NA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Shand M; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Haessly A; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Gauthier L; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Benjamin D; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Banks E; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Soto J; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Garimella K; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Emery J; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Rehm HL; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; MacArthur DG; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales 2010, Australia.; Tiao G; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Lek M; Yale School of Medicine, New Haven, Connecticut 06510, USA.; Mootha VK; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Howard Hughes Medical Institute and Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Calvo SE; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

Yang C; Center for Translational Research, Children's National Research Institute, 111 Michigan Ave NW, Washington, DC, 20010, USA.; Harafuji N; Center for Translational Research, Children's National Research Institute, 111 Michigan Ave NW, Washington, DC, 20010, USA.; O'Connor AK; Center for Translational Research, Children's National Research Institute, 111 Michigan Ave NW, Washington, DC, 20010, USA.; Kesterson RA; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35294, USA.; Watts JA; Center for Translational Research, Children's National Research Institute, 111 Michigan Ave NW, Washington, DC, 20010, USA.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35294, USA.; Majmundar AJ; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Braun DA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Fathy HM; Alexandria Faculty of Medicine, University of Alexandria, Alexandria, Egypt.; Mane S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT, USA.; Shril S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Hildebrandt F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Guay-Woodford LM; Center for Translational Research, Children's National Research Institute, 111 Michigan Ave NW, Washington, DC, 20010, USA. LGuaywoo@childrensnational.org.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35294, USA. LGuaywoo@childrensnational.org.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Gudmundsson S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. konradk@broadinstitute.org.; Francioli LC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Cummings BB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.; Alföldi J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Wang Q; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.; Collins RL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Ganna A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland, Helsinki, Finland.; Birnbaum DP; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Gauthier LD; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Rhodes D; Centre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London and Barts Health NHS Trust, London, UK.; Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Seaby EG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Kosmicki JA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.; Walters RK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tashman K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Farjoun Y; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Banks E; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Poterba T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wang A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Seed C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Whiffin N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK.; Chong JX; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Samocha KE; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Pierce-Hoffman E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Zappala Z; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Vertex Pharmaceuticals Inc, Boston, MA, USA.; O'Donnell-Luria AH; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Minikel EV; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Weisburd B; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Ware JS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK.; Vittal C; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Armean IM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Bergelson L; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cibulskis K; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Connolly KM; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Covarrubias M; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Donnelly S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ferriera S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gabriel S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gentry J; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gupta N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Jeandet T; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Kaplan D; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Llanwarne C; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Munshi R; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Novod S; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Petrillo N; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Roazen D; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ruano-Rubio V; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Saltzman A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Schleicher M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Soto J; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tibbetts K; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tolonen C; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wade G; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland, Helsinki, Finland.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. d.macarthur@garvan.org.au.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. d.macarthur@garvan.org.au.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia. d.macarthur@garvan.org.au.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. d.macarthur@garvan.org.au.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: PubMed not MEDLINE; MEDLINE

Collins RL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.; Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Zhao X; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Alföldi J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Francioli LC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Khera AV; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Lowther C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Gauthier LD; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wang H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Baumann A; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Munshi R; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Walker M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Whelan CW; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Huang Y; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Brookings T; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Sharpe T; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stone MR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Valkanas E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.; Fu J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Ruano-Rubio V; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stevens C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gupta N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cusick C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Margolin L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.; Lin HJ; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.; Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.; Post WS; Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Chen YI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.; Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.; Nusbaum C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cellarity Inc., Cambridge, MA, USA.; Philippakis A; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lander E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Department of Biology, MIT, Cambridge, MA, USA.; Gabriel S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Kathiresan S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Division of Cardiology, Massachusetts General Hospital, Boston, MA, USA.; Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Banks E; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. talkowsk@broadinstitute.org.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. talkowsk@broadinstitute.org.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. talkowsk@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. talkowsk@broadinstitute.org.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: PubMed not MEDLINE; MEDLINE