Zobrazeno 21 - 30
of 174
pro vyhledávání: '"Talkowski ME"'
Autor:
Duyzend MH; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Cacheiro P; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Jacobsen JOB; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Giordano J; Department of Obstetrics & Gynecology, Columbia University Medical Center, New York, New York, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA., Wapner RJ; Department of Obstetrics & Gynecology, Columbia University Medical Center, New York, New York, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.; Program in Biological and Biomedical Sciences, Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts, USA.; Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.; Institute for Systems Genomics, University of Connecticut, Farmington, Connecticut, USA., Smedley D; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 454-464. Date of Electronic Publication: 2024 Jan 19.
Autor:
Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Mar 07; Vol. 111 (3), pp. 619.
Autor:
Rohm D; Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA.; Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, USA., Black JB; Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA.; Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, USA., McCutcheon SR; Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA.; Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, USA., Barrera A; Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, USA.; Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27708, USA., Morone DJ; Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA.; Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, USA., Nuttle X; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., de Esch CE; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Tai DJC; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Talkowski ME; Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Iglesias N; Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA.; Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, USA., Gersbach CA; Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA.; Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, USA.; Department of Surgery, Duke University Medical Center, Durham, NC 27710, USA.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Mar 04. Date of Electronic Publication: 2024 Mar 04.
Autor:
Babadi M; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA. mehrtash@broadinstitute.org., Fu JM; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, 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., Lee SK; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Smirnov AN; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gauthier LD; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Walker M; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Benjamin DI; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Zhao X; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, 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 and Stanley Center for Psychiatric Research, 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., Wong I; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Collins RL; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Sanchis-Juan A; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, 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., Brand H; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, 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., Banks E; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Talkowski ME; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, 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.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. talkowsk@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. talkowsk@broadinstitute.org.
Publikováno v:
Nature genetics [Nat Genet] 2024 Mar; Vol. 56 (3), pp. 553.
Autor:
Chen S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. siwei@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. siwei@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., Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., 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., Kanai 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., Wang Q; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan., 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., 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., Vittal 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., Gauthier LD; Data Science 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., Wilson MW; 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., Tarasova Y; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Phu W; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Grant R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Yohannes MT; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Koenig Z; 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; Richards Lab, Lady Davis Institute, Montreal, Quebec, Canada., Banks E; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Donnelly S; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gabriel S; Broad Genomics, 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., Ferriera S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Tolonen C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Novod S; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bergelson L; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Roazen D; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ruano-Rubio V; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Covarrubias M; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Llanwarne C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Petrillo N; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wade G; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Jeandet T; 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., Tibbetts K; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Donnell-Luria A; 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 Genetics and Genomics, Boston Children's 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., Seed 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., Martin AR; 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., 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.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rehm HL; 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., 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 (FIMM), Helsinki, Finland., 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., 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., 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, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., 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.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.
Publikováno v:
Nature [Nature] 2024 Feb; Vol. 626 (7997), pp. E1.
Autor:
Mahmoud M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Huang Y; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA., Garimella K; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA., Audano PA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Wan W; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA., Prasad N; Discovery Life Sciences, Huntsville, AL, 35806, USA., Handsaker RE; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA., Hall S; Discovery Life Sciences, Huntsville, AL, 35806, USA., Pionzio A; Discovery Life Sciences, Huntsville, AL, 35806, USA., Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Levy SE; HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.; Department of Computer Science, Rice University, Houston, TX, USA. fritz.sedlazeck@bcm.edu.
Publikováno v:
Nature communications [Nat Commun] 2024 Jan 29; Vol. 15 (1), pp. 837. Date of Electronic Publication: 2024 Jan 29.
Autor:
Nuttle X; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA. Electronic address: anuttle@mgh.harvard.edu., Burt ND; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Currall B; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Moysés-Oliveira M; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA., Mohajeri K; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA; PhD program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA., Bhavsar R; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA., Lucente D; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Yadav R; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA., Tai DJC; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA., Gusella JF; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA; Harvard Stem Cell Institute, Cambridge, MA, USA., Talkowski ME; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA. Electronic address: mtalkowski@mgh.harvard.edu.
Publikováno v:
Cell reports methods [Cell Rep Methods] 2024 Jan 22; Vol. 4 (1), pp. 100672. Date of Electronic Publication: 2023 Dec 12.
Autor:
Harripaul R; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Morini E; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Salani M; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA., Logan E; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA., Kirchner E; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA., Bolduc J; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA., Chekuri A; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Currall B; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Yadav R; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Erdin S; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Gao D; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA. dgao2@mgh.harvard.edu.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. dgao2@mgh.harvard.edu., Slaugenhaupt S; Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA. slaugenhaupt@mgh.harvard.edu.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. slaugenhaupt@mgh.harvard.edu.
Publikováno v:
Scientific reports [Sci Rep] 2024 Jan 04; Vol. 14 (1), pp. 570. Date of Electronic Publication: 2024 Jan 04.
Autor:
Chen S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. siwei@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. siwei@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., Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., 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., Kanai 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., Wang Q; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan., 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., 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., Vittal 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., Gauthier LD; Data Science 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., Wilson MW; 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., Tarasova Y; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Phu W; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Grant R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Yohannes MT; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Koenig Z; 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; Richards Lab, Lady Davis Institute, Montreal, Quebec, Canada., Banks E; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Donnelly S; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gabriel S; Broad Genomics, 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., Ferriera S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Tolonen C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Novod S; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bergelson L; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Roazen D; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ruano-Rubio V; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Covarrubias M; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Llanwarne C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Petrillo N; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wade G; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Jeandet T; 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., Tibbetts K; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Donnell-Luria A; 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 Genetics and Genomics, Boston Children's 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., Seed 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., Martin AR; 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., 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.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rehm HL; 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., 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 (FIMM), Helsinki, Finland., 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., 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., 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, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., 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.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.
Publikováno v:
Nature [Nature] 2024 Jan; Vol. 625 (7993), pp. 92-100. Date of Electronic Publication: 2023 Dec 06.
Autor:
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.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Dec 27. Date of Electronic Publication: 2023 Dec 27.