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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Chong, Jessica X; Buckingham, Kati J; Jhangiani, Shalini N; Boehm, Corinne; Sobreira, Nara; Smith, Joshua D; Harrell, Tanya M; McMillin, Margaret J; Wiszniewski, Wojciech; Gambin, Tomasz; Coban Akdemir, Zeynep H; Doheny, Kimberly; Scott, Alan F; Avramopoulos, Dimitri; Chakravarti, Aravinda; Hoover-Fong, Julie; Mathews, Debra; Witmer, P Dane; Ling, Hua; Hetrick, Kurt; Watkins, Lee; Patterson, Karynne E; Reinier, Frederic; Blue, Elizabeth; Muzny, Donna; Kircher, Martin; Bilguvar, Kaya; López-Giráldez, Francesc; Sutton, V Reid; Tabor, Holly K; Leal, Suzanne M; Gunel, Murat; Mane, Shrikant; Gibbs, Richard A; Boerwinkle, Eric; Hamosh, Ada; Shendure, Jay; Lupski, James R; Lifton, Richard P; Valle, David; Nickerson, Deborah A; Bamshad, Michael J.
Afiliación
  • Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Buckingham KJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Boehm C; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Sobreira N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Harrell TM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • McMillin MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Doheny K; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Scott AF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Avramopoulos D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Chakravarti A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Hoover-Fong J; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Mathews D; Johns Hopkins Berman Institute of Bioethics, Baltimore, MD 21205, USA.
  • Witmer PD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Ling H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Hetrick K; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Watkins L; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Patterson KE; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Reinier F; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Blue E; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
  • Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Kircher M; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Bilguvar K; Department of Genetics and Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510, USA.
  • López-Giráldez F; Department of Genetics and Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510, USA.
  • Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Tabor HK; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Leal SM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gunel M; Department of Genetics and Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510, USA.
  • Mane S; Department of Genetics and Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510, USA.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
  • Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lifton RP; Department of Genetics and Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
  • Valle D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: mbamshad@uw.edu.
Am J Hum Genet ; 97(2): 199-215, 2015 Aug 06.
Article en En | MEDLINE | ID: mdl-26166479
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas / Genética Médica / Enfermedades Genéticas Congénitas Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas / Genética Médica / Enfermedades Genéticas Congénitas Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos