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Insights into genetics, human biology and disease gleaned from family based genomic studies.
Posey, Jennifer E; O'Donnell-Luria, Anne H; Chong, Jessica X; Harel, Tamar; Jhangiani, Shalini N; Coban Akdemir, Zeynep H; Buyske, Steven; Pehlivan, Davut; Carvalho, Claudia M B; Baxter, Samantha; Sobreira, Nara; Liu, Pengfei; Wu, Nan; Rosenfeld, Jill A; Kumar, Sushant; Avramopoulos, Dimitri; White, Janson J; Doheny, Kimberly F; Witmer, P Dane; Boehm, Corinne; Sutton, V Reid; Muzny, Donna M; Boerwinkle, Eric; Günel, Murat; Nickerson, Deborah A; Mane, Shrikant; MacArthur, Daniel G; Gibbs, Richard A; Hamosh, Ada; Lifton, Richard P; Matise, Tara C; Rehm, Heidi L; Gerstein, Mark; Bamshad, Michael J; Valle, David; Lupski, James R.
Afiliação
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jennifer.posey@bcm.edu.
  • O'Donnell-Luria AH; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Chong JX; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Harel T; Boston Children's Hospital, Boston, MA, USA.
  • Jhangiani SN; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Coban Akdemir ZH; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Buyske S; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Carvalho CMB; Department of Genetics, Rutgers University, Piscataway, NJ, USA.
  • Baxter S; Department of Statistics, Rutgers University, Piscataway, NJ, USA.
  • Sobreira N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Wu N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Rosenfeld JA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
  • Kumar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Avramopoulos D; Baylor Genetics Laboratory, Houston, TX, USA.
  • White JJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Doheny KF; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Witmer PD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Boehm C; Computational Biology and Bioinformatics Program, Yale University Medical School, New Haven, CT, USA.
  • Sutton VR; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
  • Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Boerwinkle E; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Günel M; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
  • Nickerson DA; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Mane S; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
  • MacArthur DG; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Gibbs RA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
  • Hamosh A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Lifton RP; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Matise TC; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Rehm HL; Human Genetics Center, University of Texas Health Science Center, Houston, TX, USA.
  • Gerstein M; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
  • Bamshad MJ; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
  • Valle D; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Lupski JR; Yale Center for Genome Analysis, Yale School of Medicine, Yale University, New Haven, CT, USA.
Genet Med ; 21(4): 798-812, 2019 04.
Article em En | MEDLINE | ID: mdl-30655598
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Heterogeneidade Genética / Genômica / Doenças Genéticas Inatas Limite: Humans País como assunto: America do norte Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Heterogeneidade Genética / Genômica / Doenças Genéticas Inatas Limite: Humans País como assunto: America do norte Idioma: En Ano de publicação: 2019 Tipo de documento: Article