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Paper Details

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Am J Hum Genet
436
2015
2,, 937 genes, Mendelian conditions, genes, human
Genetic Diseases, Inborn, Genetics, Medical, Humans, Phenotype, Proteins
Author NameAffiliation
Jessica X ChongUniversity of Washington
Jessica X ChongUniversity of Washington
Kati J BuckinghamUniversity of Washington
Shalini N JhangianiBaylor College of Medicine
Corinne BoehmMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Nara SobreiraMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Joshua D SmithUniversity of Washington
Joshua D SmithUniversity of Washington
Tanya M HarrellUniversity of Washington
Margaret J McMillinUniversity of Washington
Wojciech WiszniewskiBaylor College of Medicine
Tomasz GambinBaylor College of Medicine
Zeynep Coban AkdemirBaylor College of Medicine
Kimberly F DohenyMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, USA Center for Inherited Disease Research
Alan F ScottMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Dimitrios AvramopoulosMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Aravinda ChakravartiMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Aravinda ChakravartiMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Julie Hoover-FongMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Debra J H MathewsJohns Hopkins Berman Institute of Bioethics
Philip D WitmerMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, USA Center for Inherited Disease Research
Hua LingMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, USA Center for Inherited Disease Research
Kurt N HetrickMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, USA Center for Inherited Disease Research
Lee WatkinsMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, USA Center for Inherited Disease Research
Karynne E PattersonUniversity of Washington
Frederic ReinierUniversity of Washington
Elizabeth E BlueUniversity of Washington
Elizabeth E BlueUniversity of Washington
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Martin KircherUniversity of Washington
Kaya BilguvarDepartment of Genetics and Yale Center for Genome Analysis, Yale University School of Medicine
Francesc L??pez-Gir??ldezDepartment of Genetics and Yale Center for Genome Analysis, Yale University School of Medicine
Vernon R SuttonBaylor College of Medicine
Holly K TaborUniversity of Washington, USA Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute
Suzanne M LealBaylor College of Medicine, USA Center for Statistical Genetics
Murat GunelDepartment of Genetics and Yale Center for Genome Analysis, Yale University School of Medicine
Shrikant ManeDepartment of Genetics and Yale Center for Genome Analysis, Yale University School of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Eric BoerwinkleBaylor College of Medicine, University of Texas Health Science Center at Houston
Eric BoerwinkleBaylor College of Medicine, University of Texas Health Science Center at Houston
Ada HamoshMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Jay ShendureUniversity of Washington
Jay ShendureUniversity of Washington
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
Richard P LiftonDepartment of Genetics and Yale Center for Genome Analysis, Yale University School of Medicine, USA Howard Hughes Medical Institute
Richard P LiftonDepartment of Genetics and Yale Center for Genome Analysis, Yale University School of Medicine, USA Howard Hughes Medical Institute
David ValleMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
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