Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Gold NB"'
Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders.
Autor:
Bick SL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, 02114; Harvard Medical School, Boston, MA, 02115., Nathan A; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115., Park H; Division of Newborn Medicine, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, 02115; Harvard Medical School, Boston, MA, 02115., Green RC; Mass General Brigham, Boston, MA, 02114; Broad Institute of MIT and Harvard, Cambridge, MA, 02142; Ariadne Labs, Boston, MA, 02215; Harvard Medical School, Boston, MA, 02115., Wojcik MH; Division of Newborn Medicine, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115; Harvard Medical School, Boston, MA, 02115; Broad Institute of MIT and Harvard, Cambridge, MA, 02142., Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, 02115; Harvard Medical School, Boston, MA, 02115. Electronic address: ngold@mgh.harvard.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 28, pp. 101284. Date of Electronic Publication: 2024 Sep 28.
Autor:
Minten T, Gold NB, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H, Bick D, Green RC
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Sep 16. Date of Electronic Publication: 2024 Sep 16.
Autor:
Smith HS; Department of Population Medicine, Precision Medicine Translational Research (PROMoTeR) Center, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA 02215, USA; Center for Bioethics, Harvard Medical School, Boston, MA 02215, USA., Zettler B; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Ariadne Labs, Boston, MA 02215, USA., Genetti CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Hickingbotham MR; Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA 02215, USA., Coleman TF; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Lebo M; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Boston, MA 02139, USA; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02215, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Nagy A; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Boston, MA 02139, USA., Zouk H; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Boston, MA 02139, USA; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02215, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Mahanta L; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Boston, MA 02139, USA., Christensen KD; Department of Population Medicine, Precision Medicine Translational Research (PROMoTeR) Center, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA 02215, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Pereira S; Center for Medical Ethics & Health Policy, Baylor College of Medicine, Houston, TX 77030, USA., Shah ND; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA; Dartmouth Health Children's, Lebanon, NH 03756, USA., Gold NB; Massachusetts General Hospital for Children, Division of Medical Genetics and Metabolism, Boston, MA 02114, USA; Harvard Medical School, Department of Pediatrics, Boston, MA 02115, USA., Walmsley S; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Ariadne Labs, Boston, MA 02215, USA., Edwards S; The E.WE Foundation, Huntsville, AL 35813, USA., Homayouni R; Department of Foundational Medical Studies, Oakland University William Beaumont School of Medicine, Rochester, MI 48309, USA., Krasan GP; Department of Pediatrics, Corewell Health William Beaumont University Hospital, Royal Oak, MI 48073, USA., Hakonarson H; Center for Applied Genomics, The Joseph Stokes Jr. Research Institute of Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Horowitz CR; Department of Population Health Science and Policy, Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics & Genomic Sciences Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Korf BR; Department of Genetics, UAB Heersink School of Medicine, Birmingham, AL 35233, USA., McGuire AL; Center for Medical Ethics & Health Policy, Baylor College of Medicine, Houston, TX 77030, USA., Holm IA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Department of Pediatrics, Boston, MA 02115, USA. Electronic address: ingrid.holm@childrens.harvard.edu., Green RC; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Ariadne Labs, Boston, MA 02215, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Sep 10. Date of Electronic Publication: 2024 Sep 10.
Autor:
Bowen AB; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Rapalino O; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Jaimes C; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Ratai EM; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Zhong Y; Department of Neurology, Child Neurology Division, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Thiele EA; Department of Neurology, Child Neurology Division, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Ganetzky RD; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Gold NB; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Walker MA; Department of Neurology, Child Neurology Division, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul 26, pp. e63825. Date of Electronic Publication: 2024 Jul 26.
Autor:
Shepherdson JL; Medical Scientist Training Program, Washington University School of Medicine, St. Louis, MO, USA., Hutchison K; Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Don DW; Department of Biology, Chungnam National University, Daejeon 34134, Korea., McGillivray G; Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Choi TI; Department of Biology, Chungnam National University, Daejeon 34134, Korea., Allan CA; Hudson Institute of Medical Research, Monash University, and Department of Endocrinology, Monash Health, Melbourne, Australia., Amor DJ; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville 3052, VIC, Australia., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Basel DG; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., Buch LD; Greenwood Genetic Center, Greenwood, SC, USA., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Carroll R; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Crawford A; Medical Genomics Research, Illumina Inc, San Diego, CA, USA., Dunø M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France; INSERM UMR1231, Equipe GAD, Université de Bourgogne-Franche Comté, 21000 Dijon, France., Gilfillan CP; Eastern Health Clinical School, Monash University, Melbourne, VIC, Australia; Department of Endocrinology, Eastern Health, Box Hill Hospital, Melbourne, VIC, Australia., Gold NB; Harvard Medical School, Boston, MA, USA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA, USA., Gripp KW; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE, USA., Hobson E; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK., Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Innes AM; Departments of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, 44000 Nantes, France., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Amel Riazat Kesh L; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, 44000 Nantes, France., Lecoquierre F; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Lockhart P; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville 3052, VIC, Australia., Maraval J; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France; INSERM UMR1231, Equipe GAD, Université de Bourgogne-Franche Comté, 21000 Dijon, France., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., McCarrier J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., McCarthy J; Department of Endocrinology, Eastern Health, Box Hill Hospital, Melbourne, VIC, Australia., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo 162-8655, Japan., Moey LH; Department of Genetics, Penang General Hospital, George Town, Penang, Malaysia., Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Patel R; Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA., Pope K; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Schnur RE; GeneDx, Gaithersburg, MD 20877, USA., Shaw M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., Taylor JP; Medical Genomics Research, Illumina Inc, San Diego, CA, USA., Wadman E; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE, USA., Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., White SM; Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville 3052, VIC, Australia., Wong LC; Medical Genetics, Kaiser Permanente Downey Medical Center, Downey, CA, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Corbett MA; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Nicolet CM; Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Farnham PJ; Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Kim CH; Department of Biology, Chungnam National University, Daejeon 34134, Korea. Electronic address: zebrakim@cnu.ac.kr., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: mshinawi@wustl.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Mar 07; Vol. 111 (3), pp. 487-508. Date of Electronic Publication: 2024 Feb 06.
Autor:
Romo L; Harvard Medical Genetics Training Program, Boston Children's Hospital Boston., Gold NB; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital for Children and Harvard Medical School., Walker MA; Division of Child Neurology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Publikováno v:
Current opinion in endocrinology, diabetes, and obesity [Curr Opin Endocrinol Diabetes Obes] 2024 Feb 01; Vol. 31 (1), pp. 34-42. Date of Electronic Publication: 2023 Dec 04.
Autor:
Koch I; https://ror.org/00sfn8y78 Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA., Slovik M; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel., Zhang Y; https://ror.org/0207yh398 Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan, PR China., Liu B; https://ror.org/0207yh398 Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan, PR China., Rennie M; https://ror.org/00vtgdb53 School of Molecular Biosciences, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow, UK., Konz E; https://ror.org/00sfn8y78 Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA., Cogne B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Daana M; Child Development Centers, Clalit Health Care Services, Jerusalem, Israel., Davids L; Department of Neurosciences, Children's Healthcare of Atlanta, Atlanta, GA, USA., Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Gold NB; Massachusetts General Hospital for Children, Boston, MA, USA.; https://ror.org/03wevmz92 Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Holtz AM; https://ror.org/03wevmz92 Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Mor-Shaked H; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel., Neira Fresneda J; https://ror.org/03czfpz43 Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Niederhoffer KY; https://ror.org/0160cpw27 Department of Medical Genetics, University of Alberta, Edmonton, Canada., Nizon M; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Simon M; https://ror.org/0575yy874 Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Wevers M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Yanovsky-Dagan S; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel., Atanassov BS; Department of Pharmacology and Therapeutics, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA., Toth R; MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK., Gao C; https://ror.org/0207yh398 Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan, PR China., Bustos F; https://ror.org/00sfn8y78 Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA Francisco.bustos@sanfordhealth.org.; Department of Pediatrics, University of South Dakota, Sioux Falls, SD, USA., Harel T; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel tamarhe@hadassah.org.il.; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.
Publikováno v:
Life science alliance [Life Sci Alliance] 2024 Jan 05; Vol. 7 (3). Date of Electronic Publication: 2024 Jan 05 (Print Publication: 2024).
Autor:
Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA; Harvard Medical School, Boston, MA. Electronic address: ngold@mgh.harvard.edu., Nadel A; Harvard Medical School, Boston, MA; Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, MA., Green RC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Ariadne Labs, Boston, MA; Department of Medicine, Harvard Medical School, Boston, MA; Broad Institute, Boston, MA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jan; Vol. 26 (1), pp. 101008. Date of Electronic Publication: 2023 Oct 17.
Autor:
Nagarur A; From the Departments of Medicine (A.N., A.Z.F.), Radiology (T.T.P.), Surgery (E.R.W.), and Pediatrics (N.B.G.), Massachusetts General Hospital, and the Departments of Medicine (A.N., A.Z.F.), Radiology (T.T.P.), Surgery (E.R.W.), and Pediatrics (N.B.G.), Harvard Medical School - both in Boston., Pierce TT; From the Departments of Medicine (A.N., A.Z.F.), Radiology (T.T.P.), Surgery (E.R.W.), and Pediatrics (N.B.G.), Massachusetts General Hospital, and the Departments of Medicine (A.N., A.Z.F.), Radiology (T.T.P.), Surgery (E.R.W.), and Pediatrics (N.B.G.), Harvard Medical School - both in Boston., Fenves AZ; From the Departments of Medicine (A.N., A.Z.F.), Radiology (T.T.P.), Surgery (E.R.W.), and Pediatrics (N.B.G.), Massachusetts General Hospital, and the Departments of Medicine (A.N., A.Z.F.), Radiology (T.T.P.), Surgery (E.R.W.), and Pediatrics (N.B.G.), Harvard Medical School - both in Boston., Witkowski ER; From the Departments of Medicine (A.N., A.Z.F.), Radiology (T.T.P.), Surgery (E.R.W.), and Pediatrics (N.B.G.), Massachusetts General Hospital, and the Departments of Medicine (A.N., A.Z.F.), Radiology (T.T.P.), Surgery (E.R.W.), and Pediatrics (N.B.G.), Harvard Medical School - both in Boston., Gold NB; From the Departments of Medicine (A.N., A.Z.F.), Radiology (T.T.P.), Surgery (E.R.W.), and Pediatrics (N.B.G.), Massachusetts General Hospital, and the Departments of Medicine (A.N., A.Z.F.), Radiology (T.T.P.), Surgery (E.R.W.), and Pediatrics (N.B.G.), Harvard Medical School - both in Boston.
Publikováno v:
The New England journal of medicine [N Engl J Med] 2023 Sep 28; Vol. 389 (13), pp. 1221-1230.
Autor:
Gold JI; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia; Philadelphia, PA, USA., Madhavan S; Harvard Medical School, Boston, MA, USA.; Harvard Business School, Cambridge, MA, USA., Park J; Department of Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Zouk H; Harvard Medical School, Boston, MA, USA.; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge MA, USA.; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA., Perez E; Mass General Brigham Personalized Medicine, Cambridge MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Strong A; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia; Philadelphia, PA, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Drivas TG; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Karaa A; Massachusetts General Hospital for Children, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Yudkoff M; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia; Philadelphia, PA, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rader D; Department of Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Green RC; Harvard Medical School, Boston, MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Broad Institute, Boston, MA, USA.; Ariadne Labs, Boston, MA, USA., Gold NB; Massachusetts General Hospital for Children, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Publikováno v:
HGG advances [HGG Adv] 2023 Jul 29; Vol. 4 (4), pp. 100226. Date of Electronic Publication: 2023 Jul 29 (Print Publication: 2023).