المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736

المؤلفون: Zhao Y, Luquette LJ, Veit AD, Wang X, Xi R, Viswanadham VV, Shao DD, Walsh CA, Yang HW, Johnson MD, Park PJ

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2024 Apr 29. Date of Electronic Publication: 2024 Apr 29.

نوع المنشور: Preprint

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

المؤلفون: Ganz J; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Luquette LJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA., Bizzotto S; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Sorbonne Université, Institut du Cerveau (Paris Brain Institute) ICM, Inserm, CNRS, Hôpital de la Pitié Salpêtrière, 75013 Paris, France., Miller MB; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA., Zhou Z; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Bohrson CL; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA., Jin H; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA., Tran AV; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA., Viswanadham VV; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA., McDonough G; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA., Brown K; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA., Chahine Y; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA., Chhouk B; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA., Galor A; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA. Electronic address: peter_park@hms.harvard.edu., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: christopher.walsh@childrens.harvard.edu.

المصدر: Cell [Cell] 2024 Apr 11; Vol. 187 (8), pp. 1955-1970.e23. Date of Electronic Publication: 2024 Mar 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

مواضيع طبية MeSH: Aging*/genetics , Aging*/pathology , Neurons*/metabolism , Neurons*/pathology , Oligodendroglia*/metabolism , Oligodendroglia*/pathology , Brain*/metabolism , Brain*/pathology, Humans ; Chromatin/genetics ; Chromatin/metabolism ; Mutation ; Single-Cell Gene Expression Analysis ; Whole Genome Sequencing ; Polymorphism, Single Nucleotide ; INDEL Mutation ; Biological Specimen Banks ; Oligodendrocyte Precursor Cells/metabolism ; Oligodendrocyte Precursor Cells/pathology

المؤلفون: Rodin RE; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Dou Y; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Kwon M; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Sherman MA; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Department of Electrical Engineering and Computer Science, MIT, Cambridge, MA, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., D'Gama AM; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Doan RN; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Rento LM; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Girskis KM; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Bohrson CL; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Kim SN; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Nadig A; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Luquette LJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Gulhan DC; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. peter_park@hms.harvard.edu.; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA. peter_park@hms.harvard.edu., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA. Christopher.walsh@childrens.harvard.edu.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA. Christopher.walsh@childrens.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Christopher.walsh@childrens.harvard.edu.

مؤلفون مشاركون: Brain Somatic Mosaicism Network

المصدر: Nature neuroscience [Nat Neurosci] 2023 Oct; Vol. 26 (10), pp. 1833.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Ganz J; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Luquette LJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA., Bizzotto S; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Sorbonne Université, Institut du Cerveau (Paris Brain Institute) ICM, Inserm, CNRS, Ho pital de la Pitié Salpe triére, Paris, France., Bohrson CL; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA., Jin H; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA., Miller MB; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Departments of Pathology and Neurology, Brigham and Women's Hospital, Boston, MA 02115, USA., Zhou Z; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Galor A; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Jan 14. Date of Electronic Publication: 2023 Jan 14.

نوع المنشور: Preprint

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

المؤلفون: Luquette LJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Miller MB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Division of Neuropathology, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Zhou Z; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Bohrson CL; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Zhao Y; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Jin H; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Gulhan D; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Ganz J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Bizzotto S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Kirkham S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Hochepied T; Center for Inflammation Research, Flanders Institute for Biotechnolpogy (VIB), Ghent, Belgium.; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium., Libert C; Center for Inflammation Research, Flanders Institute for Biotechnolpogy (VIB), Ghent, Belgium.; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium., Galor A; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Kim J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea., Lodato MA; Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA, USA., Garaycoechea JI; Hubrecht Institute-KNAW, University Medical Center Utrecht, Utrecht, the Netherlands., Gawad C; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Chan Zuckerberg Biohub, San Francisco, CA, USA., West J; BioSkryb, Durham, NC, USA., Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. Christopher.Walsh@childrens.harvard.edu.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA. Christopher.Walsh@childrens.harvard.edu.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA. Christopher.Walsh@childrens.harvard.edu., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. peter_park@hms.harvard.edu.

المصدر: Nature genetics [Nat Genet] 2022 Oct; Vol. 54 (10), pp. 1564-1571. Date of Electronic Publication: 2022 Sep 26.

نوع المنشور: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: 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

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing*/methods , Point Mutation*, Genome, Human/genetics ; Humans ; INDEL Mutation/genetics ; Neurons ; Nucleotides ; Polymorphism, Single Nucleotide/genetics ; Single-Cell Analysis

المؤلفون: Miller MB; Division of Neuropathology, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Huang AY; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Kim J; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea., Zhou Z; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Kirkham SL; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Maury EA; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Bioinformatics and Integrative Genomics Program, Harvard-MIT MD-PhD Program, Harvard Medical School, Boston, MA, USA., Ziegenfuss JS; Department of Molecular, Cell and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA., Reed HC; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Allegheny College, Meadville, PA, USA., Neil JE; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Boston, MA, USA., Rento L; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Boston, MA, USA., Ryu SC; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Ma CC; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Luquette LJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Ames HM; Department of Pathology, University of Maryland School of Medicine, Baltimore, MD, USA., Oakley DH; Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA., Frosch MP; Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA., Hyman BT; Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA., Lodato MA; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA. michael.lodato@umassmed.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. michael.lodato@umassmed.edu.; Department of Molecular, Cell and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA. michael.lodato@umassmed.edu., Lee EA; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA. ealice.lee@childrens.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. ealice.lee@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. ealice.lee@childrens.harvard.edu., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. christopher.walsh@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.; Howard Hughes Medical Institute, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.; Department of Neurology, Harvard Medical School, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.

المصدر: Nature [Nature] 2022 Apr; Vol. 604 (7907), pp. 714-722. Date of Electronic Publication: 2022 Apr 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Alzheimer Disease*/genetics , Alzheimer Disease*/pathology , Neurons*/pathology, Aging ; DNA ; Exons ; Genomics ; Hippocampus/cytology ; Humans ; Mutation Rate ; Nucleotides ; Prefrontal Cortex/cytology ; Whole Genome Sequencing

المؤلفون: Luquette LJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. peter_park@hms.harvard.edu.

المصدر: Cell research [Cell Res] 2021 Sep; Vol. 31 (9), pp. 949-950.

نوع المنشور: Journal Article; Comment

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9425763 Publication Model: Print Cited Medium: Internet ISSN: 1748-7838 (Electronic) Linking ISSN: 10010602 NLM ISO Abbreviation: Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Mutation Accumulation*, Mutation

المؤلفون: Rodin RE; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Dou Y; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Kwon M; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Sherman MA; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Department of Electrical Engineering and Computer Science, MIT, Cambridge, MA, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., D'Gama AM; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Doan RN; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Rento LM; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Girskis KM; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Bohrson CL; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Kim SN; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Nadig A; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Luquette LJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Gulhan DC; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. peter_park@hms.harvard.edu.; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA. peter_park@hms.harvard.edu., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA. Christopher.walsh@childrens.harvard.edu.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA. Christopher.walsh@childrens.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Christopher.walsh@childrens.harvard.edu.

مؤلفون مشاركون: Brain Somatic Mosaicism Network

المصدر: Nature neuroscience [Nat Neurosci] 2021 Apr; Vol. 24 (4), pp. 611.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Wang Y; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI, 48109, USA., Bae T; Department of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA., Thorpe J; Program in Biochemistry, Cellular and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, MD, 21205, USA., Sherman MA; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; MIT Department of Electrical Engineering and Computer Science, Cambridge, MA, USA., Jones AG; Department of Cell, Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA., Cho S; Department of Neurology, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, 21205, USA.; Present Address: Arcus Biosciences, Hayward, CA, 94545, USA., Daily K; Sage Bionetworks, Seattle, WA, USA., Dou Y; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Ganz J; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Galor A; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Lobon I; Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), PRBB, 08003, Barcelona, Catalonia, Spain.; Department of Cell Biology, Physiology and Immunology, and Institute of Neurosciences, University of Barcelona, 08028, Barcelona, Spain., Pattni R; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA., Rosenbluh C; Department of Cell, Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA., Tomasi S; Child Study Center, Yale University, New Haven, CT, 06520, USA., Tomasini L; Child Study Center, Yale University, New Haven, CT, 06520, USA., Yang X; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Zhou B; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA., Akbarian S; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Ball LL; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Bizzotto S; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Emery SB; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Doan R; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Fasching L; Child Study Center, Yale University, New Haven, CT, 06520, USA., Jang Y; Department of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA., Juan D; Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), PRBB, 08003, Barcelona, Catalonia, Spain., Lizano E; Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), PRBB, 08003, Barcelona, Catalonia, Spain., Luquette LJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Moldovan JB; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Narurkar R; Lieber Institute for Brain Development, Baltimore, MD, 21205, USA., Oetjens MT; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Rodin RE; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Sekar S; Department of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA., Shin JH; Lieber Institute for Brain Development, Baltimore, MD, 21205, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA., Soriano E; Department of Cell Biology, Physiology and Immunology, and Institute of Neurosciences, University of Barcelona, 08028, Barcelona, Spain.; Vall d'Hebron Institut de Recerca, 08035, Barcelona, Spain.; Centro de Investigación en Red sobre Enfermedades Neurodegenerativas (CIBERNED), 28031, Madrid, Spain.; ICREA Academia, 08010 Barcelona, Spain., Straub RE; Lieber Institute for Brain Development, Baltimore, MD, 21205, USA., Zhou W; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI, 48109, USA., Chess A; Department of Cell, Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Icahn Institute for Data Science and Genomic Technologies, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Marquès-Bonet T; Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), PRBB, 08003, Barcelona, Catalonia, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), 08010, Barcelona, Spain.; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), 08036, Barcelona, Spain.; Institut Català de Paleontologia Miquel Crusafont, Universitat Autònoma de Barcelona, 08193, Cerdanyola del Vallès, Barcelona, Spain., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Peters MA; Sage Bionetworks, Seattle, WA, USA., Pevsner J; Department of Neurology, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, 21205, USA., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Weinberger DR; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, 21205, USA.; Lieber Institute for Brain Development, Baltimore, MD, 21205, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Department of Neuroscience, Johns Hopkins School of Medicine, Baltimore, MD, USA., Vaccarino FM; Child Study Center, Yale University, New Haven, CT, 06520, USA.; Department of Neuroscience, Yale University, New Haven, 06520, CT, USA., Moran JV; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Urban AE; Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Tashia and John Morgridge Faculty Scholar, Stanford Child Health Research Institute, Stanford, CA, 94305, USA., Kidd JM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI, 48109, USA., Mills RE; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI, 48109, USA., Abyzov A; Department of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA. Abyzov.Alexej@mayo.edu.

مؤلفون مشاركون: Brain Somatic Mosaicism Network

المصدر: Genome biology [Genome Biol] 2021 Mar 29; Vol. 22 (1), pp. 92. Date of Electronic Publication: 2021 Mar 29.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*/methods , Genetic Variation*, Brain/*metabolism, Alleles ; Chromosome Mapping ; Computational Biology/methods ; Genomics/methods ; Germ Cells/metabolism ; High-Throughput Nucleotide Sequencing ; Humans ; Organ Specificity/genetics ; Polymorphism, Single Nucleotide