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An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Haghighi, Alireza; Krier, Joel B; Toth-Petroczy, Agnes; Cassa, Christopher A; Frank, Natasha Y; Carmichael, Nikkola; Fieg, Elizabeth; Bjonnes, Andrew; Mohanty, Anwoy; Briere, Lauren C; Lincoln, Sharyn; Lucia, Stephanie; Gupta, Vandana A; Söylemez, Onuralp; Sutti, Sheila; Kooshesh, Kameron; Qiu, Haiyan; Fay, Christopher J; Perroni, Victoria; Valerius, Jamie; Hanna, Meredith; Frank, Alexander; Ouahed, Jodie; Snapper, Scott B; Pantazi, Angeliki; Chopra, Sameer S; Leshchiner, Ignaty; Stitziel, Nathan O; Feldweg, Anna; Mannstadt, Michael; Loscalzo, Joseph; Sweetser, David A; Liao, Eric; Stoler, Joan M; Nowak, Catherine B; Sanchez-Lara, Pedro A; Klein, Ophir D; Perry, Hazel; Patsopoulos, Nikolaos A; Raychaudhuri, Soumya; Goessling, Wolfram; Green, Robert C; Seidman, Christine E; MacRae, Calum A; Sunyaev, Shamil R; Maas, Richard L; Vuzman, Dana.
Afiliación
  • Haghighi A; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Krier JB; 2Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Toth-Petroczy A; 3Department of Genetics, Harvard Medical School, Boston, MA 02115 USA.
  • Cassa CA; 4Howard Hughes Medical Institute, Brigham and Womens Hospital, Boston, MA 02115 USA.
  • Frank NY; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.
  • Carmichael N; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Fieg E; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Bjonnes A; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Mohanty A; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.
  • Briere LC; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Lincoln S; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.
  • Lucia S; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Gupta VA; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Söylemez O; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Sutti S; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Kooshesh K; 6Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114 USA.
  • Qiu H; 7Division of Genetics and Genomics, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Fay CJ; 7Division of Genetics and Genomics, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Perroni V; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Valerius J; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Hanna M; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Frank A; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Ouahed J; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Snapper SB; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Pantazi A; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Chopra SS; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Leshchiner I; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Stitziel NO; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Feldweg A; 8Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Mannstadt M; 8Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Loscalzo J; 9Division of Gastroenterology, Hepatology and Endoscopy, Department of Medicine, Brigham and Womens Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Sweetser DA; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Liao E; 10Dana-Farber Cancer Institute, Boston, MA 02115 USA.
  • Stoler JM; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.
  • Nowak CB; 11Cardiovascular Division, Department of Medicine; Department of Genetics; McDonnell Genome Institute, Washington University School of Medicine, St Louis, MO 63110 USA.
  • Sanchez-Lara PA; 12Department of Medicine, Brigham and Womens Hospital, Harvard Medical School, Boston, MA 02215 USA.
  • Klein OD; 13Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Harvard Medical School, Boston, MA 02114 USA.
  • Perry H; 12Department of Medicine, Brigham and Womens Hospital, Harvard Medical School, Boston, MA 02215 USA.
  • Patsopoulos NA; 6Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114 USA.
  • Raychaudhuri S; 14Division of Plastic and Reconstructive Surgery, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114 USA.
  • Goessling W; 7Division of Genetics and Genomics, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Green RC; 7Division of Genetics and Genomics, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.
  • Seidman CE; 15Feingold Center for Children, Childrens Hospital Boston at Waltham, Waltham, MA 02453 USA.
  • MacRae CA; 16Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048 USA.
  • Sunyaev SR; 17Department of Orofacial Sciences, University of California San Francisco, San Francisco, CA 94143 USA.
  • Maas RL; 17Department of Orofacial Sciences, University of California San Francisco, San Francisco, CA 94143 USA.
  • Vuzman D; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.
NPJ Genom Med ; 3: 21, 2018.
Article en En | MEDLINE | ID: mdl-30131872
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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: NPJ Genom Med Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: NPJ Genom Med Año: 2018 Tipo del documento: Article