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Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L.; Wang, Harold Z.; Currall, Benjamin B.; O’Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E.; Whelan, Christopher W.; Hao, Stephanie P.; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L.; Zhao, Xuefang; Austin-Tse, Christina A.; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S.; Lucente, Diane; Gauthier, Laura D.; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E.; MacKenzie, Tippi C.; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C.; Brandt, Alicia; Vetrini, Francesco; DiVito, Michelle; Sanders, Stephan J.; MacArthur, Daniel G.; Hodge, Jennelle C.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Vora, Neeta L.; Levy, Brynn; Brand, Harrison; Wapner, Ronald J.; Talkowski, Michael E.

In The American Journal of Human Genetics 7 September 2023 110(9):1454-1469

Lek, Monkol; Karczewski, Konrad J; Minikel, Eric V; Samocha, Kaitlin E; Banks, Eric; Fennell, Timothy; O'Donnell-Luria, Anne H; Ware, James S; Hill, Andrew J; Cummings, Beryl B; Tukiainen, Taru; Birnbaum, Daniel P; Kosmicki, Jack A; Duncan, Laramie E; Estrada, Karol; Zhao, Fengmei; Zou, James; Pierce-Hoffman, Emma; Berghout, Joanne; Cooper, David N; Deflaux, Nicole; DePristo, Mark; Do, Ron; Flannick, Jason; Fromer, Menachem; Gauthier, Laura; Goldstein, Jackie; Gupta, Namrata; Howrigan, Daniel; Kiezun, Adam; Kurki, Mitja I; Moonshine, Ami Levy; Natarajan, Pradeep; Orozco, Lorena; Peloso, Gina M; Poplin, Ryan; Rivas, Manuel A; Ruano-Rubio, Valentin; Rose, Samuel A; Ruderfer, Douglas M; Shakir, Khalid; Stenson, Peter D; Stevens, Christine; Thomas, Brett P; Tiao, Grace; Tusie-Luna, Maria T; Weisburd, Ben; Won, Hong-Hee; Yu, Dongmei; Altshuler, David M; Ardissino, Diego; Boehnke, Michael; Danesh, John; Donnelly, Stacey; Elosua, Roberto; Florez, Jose C; Gabriel, Stacey B; Getz, Gad; Glatt, Stephen J; Hultman, Christina M; Kathiresan, Sekar; Laakso, Markku; McCarroll, Steven; McCarthy, Mark I; McGovern, Dermot; McPherson, Ruth; Neale, Benjamin M; Palotie, Aarno; Purcell, Shaun M; Saleheen, Danish; Scharf, Jeremiah M; Sklar, Pamela; Sullivan, Patrick F; Tuomilehto, Jaakko; Tsuang, Ming T; Watkins, Hugh C; Wilson, James G; Daly, Mark J; MacArthur, Daniel G; Exome Aggregation Consortium

Nature. 536(7616)

Billingsley, Kimberley J.; Ding, Jinhui; Jerez, Pilar Alvarez; Illarionova, Anastasia; Levine, Kristin; Grenn, Francis P.; Makarious, Mary B.; Moore, Anni; Vitale, Daniel; Reed, Xylena; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; UK Brain Expression Consortium UKBEC, Ruth; Chia, Ruth W.; Scholz, Sonja J.; Traynor, Bryan L.; Dalgard, Clifton J.; Ehrlich, Debra; Tanaka, Toshiko; Ferrucci, Luigi G.; Beach, Thomas E.; Serrano, Geidy P.; Quinn, John J.; Bubb, Vivien; Collins, Ryan L.; Zhao, Xuefang; Walker, Mark; Pierce-Hoffman, Emma; Brand, Harrison E.; Talkowski, Michael; Casey, Bradford; Cookson, Mark R.; Markham, Androo A.; Nalls, Mike; Mahmoud, Medhat; Sedlazeck, Fritz J.; Blauwendraat, Cornelis; Gibbs, J. Raphael B.; Singleton, Andrew

ANNALS OF NEUROLOGY; FEB 3 2023, 11p.

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NATURE MEDICINE; JAN 19 2023, 28p.

Weng, Patricia L.; Majmundar, Amar J.; Khan, Kamal; Lim, Tze Y.; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina F.; Aggarwal, Vimla S.; Bier, Louise E.; Heinzen, Erin L.; Onuchic-Whitford, Ana C.; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M.; Klambt, Verena; Kolb, Amy; Mao, Youying; Moufawad El Achkar, Christelle; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo B.; Altmuller, Janine; Benz, Marcus R.; Yano, Shoji; Mikati, Mohamad A.; Gunduz, Talha; Cope, Heidi; Shashi, Vandana; Trachtman, Howard; Bodria, Monica; Caridi, Gianluca; Pisani, Isabella; Fiaccadori, Enrico; AbuMaziad, Asmaa S.; Martinez-Agosto, Julian A.; Yadin, Ora; Zuckerman, Jonathan; Kim, Arang; John-Kroegel, Ulrike; Tyndall, Amanda V.; Parboosingh, Jillian S.; Innes, A. Micheil; Bierzynska, Agnieszka; Koziell, Ania B.; Muorah, Mordi; Saleem, Moin A.; Hoefele, Julia; Riedhammer, Korbinian M.; Gharavi, Ali G.; Jobanputra, Vaidehi; Pierce-Hoffman, Emma; Seaby, Eleanor G.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Mane, Shrikant; D'Agati, Vivette D.; Pollak, Martin R.; Ghiggeri, Gian Marco; Lifton, Richard P.; Goldstein, David B.; Davis, Erica E.; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone

American Journal of Human Genetics. Feb 4, 2021, Vol. 108 Issue 2, 357

Karczewski, Konrad J.; Francioli, Laurent C.; Tiao, Grace; Cummings, Beryl B.; Alfoldi, Jessica; Wang, Qingbo; Collins, Ryan L.; Laricchia, Kristen M.; Ganna, Andrea; Birnbaum, Daniel P.; Gauthier, Laura D.; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A.; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M.; Seaby, Eleanor G.; Kosmicki, Jack A.; Walters, Raymond K.; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X.; Samocha, Kaitlin E.; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H.; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S.; Vittal, Christopher; Armean, Irina M.; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M.; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E.; Neale, Benjamin M.; Daly, Mark J.; MacArthur, Daniel G.; Genome Aggregation Database Consor

NATURE; MAY 28 2020, 581 7809, p434-p+, 22p.

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

Wang Q; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, 02115, USA.; Pierce-Hoffman E; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Cummings BB; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.; Program in Biomedical and Biological Sciences, Harvard Medical School, Boston, MA, 02115, USA.; Alföldi J; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.; Francioli LC; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.; Gauthier LD; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Hill AJ; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, 98195, USA.; O'Donnell-Luria AH; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.; Karczewski KJ; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.; MacArthur DG; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. danmac@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA. danmac@broadinstitute.org.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia. danmac@broadinstitute.org.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia. danmac@broadinstitute.org.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: PubMed not MEDLINE; MEDLINE

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; 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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; 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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

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In: Nature Medicine. (Nature Medicine, January 2024, 30(1):302)