Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
Autorzy:
Zhu N; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Department of Systems Biology, Columbia University Medical Center, New York, NY, USA. Welch CL; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA. Wang J; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Department of Systems Biology, Columbia University Medical Center, New York, NY, USA. Allen PM; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA. Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA. Ma L; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA. King AK; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA. Krishnan U; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA. Rosenzweig EB; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Department of Medicine, Columbia University Medical Center, New York, NY, USA. Ivy DD; Department of Pediatric Cardiology, Children's Hospital Colorado, Denver, CO, USA. Austin ED; Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA. Hamid R; Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA. Pauciulo MW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of CincinnatiCollege of Medicine, Cincinnati, OH, USA. Lutz KA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. Nichols WC; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of CincinnatiCollege of Medicine, Cincinnati, OH, USA. Reid JG; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA. Overton JD; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA. Baras A; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA. DeweyFE; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA. Shen Y; Department of Systems Biology, Columbia University Medical Center, New York, NY, USA.; Department of Biomedical Informatics, Columbia University, New York, NY, USA. Chung WK; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA. .; Department of Medicine, Columbia University Medical Center, New York, NY, USA. .; Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, USA. .; New York, USA. .
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Źródło:
Genome medicine [Genome Med] 2018 Jul 20; Vol. 10 (1), pp. 56. Date of Electronic Publication: 2018 Jul 20.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Autorzy:
DeweyFE; Regeneron Genetics Center, Tarrytown, NY 10591, USA. .dewey@regeneron.com. Murray MF; Geisinger Health System, Danville, PA 17822, USA. Overton JD; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Habegger L; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Leader JB; Geisinger Health System, Danville, PA 17822, USA. Fetterolf SN; Geisinger Health System, Danville, PA 17822, USA. O'Dushlaine C; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Van Hout CV; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Staples J; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Metpally R; Geisinger Health System, Danville, PA 17822, USA. Pendergrass SA; Geisinger Health System, Danville, PA 17822, USA. Giovanni MA; Geisinger Health System, Danville, PA 17822, USA. Kirchner HL; Geisinger Health System, Danville, PA 17822, USA. Balasubramanian S; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Abul-Husn NS; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Hartzel DN; Geisinger Health System, Danville, PA 17822, USA. Lavage DR; Geisinger Health System, Danville, PA 17822, USA. Kost KA; Geisinger Health System, Danville, PA 17822, USA. Packer JS; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Lopez AE; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Penn J; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Mukherjee S; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Gosalia N; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Kanagaraj M; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Li AH; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Mitnaul LJ; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Adams LJ; Geisinger Health System, Danville, PA 17822, USA. Person TN; Geisinger Health System, Danville, PA 17822, USA. Praveen K; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Marcketta A; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Lebo MS; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA. Austin-Tse CA; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA. Mason-Suares HM; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA. Bruse S; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Mellis S; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA. Phillips R; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA. Stahl N; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA. Murphy A; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA. Economides A; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Skelding KA; Geisinger Health System, Danville, PA 17822, USA. Still CD; Geisinger Health System, Danville, PA 17822, USA. Elmore JR; Geisinger Health System, Danville, PA 17822, USA. Borecki IB; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Yancopoulos GD; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA. Davis FD; Geisinger Health System, Danville, PA 17822, USA. Faucett WA; Geisinger Health System, Danville, PA 17822, USA. Gottesman O; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Ritchie MD; Geisinger Health System, Danville, PA 17822, USA. Shuldiner AR; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Reid JG; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Ledbetter DH; Geisinger Health System, Danville, PA 17822, USA. Baras A; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Carey DJ; Geisinger Health System, Danville, PA 17822, USA. .dewey@regeneron.com.
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Autorzy:
Abul-Husn NS; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Manickam K; Geisinger Health System, Danville, PA 17822, USA. Jones LK; Geisinger Health System, Danville, PA 17822, USA. Wright EA; Geisinger Health System, Danville, PA 17822, USA. Hartzel DN; Geisinger Health System, Danville, PA 17822, USA. Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY 10591, USA. O'Dushlaine C; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Leader JB; Geisinger Health System, Danville, PA 17822, USA. Lester Kirchner H; Geisinger Health System, Danville, PA 17822, USA. Lindbuchler DM; Geisinger Health System, Danville, PA 17822, USA. Barr ML; Geisinger Health System, Danville, PA 17822, USA. Giovanni MA; Geisinger Health System, Danville, PA 17822, USA. Ritchie MD; Geisinger Health System, Danville, PA 17822, USA. Overton JD; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Reid JG; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Metpally RP; Geisinger Health System, Danville, PA 17822, USA. Wardeh AH; Geisinger Health System, Danville, PA 17822, USA. Borecki IB; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Yancopoulos GD; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Baras A; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Shuldiner AR; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Gottesman O; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Ledbetter DH; Geisinger Health System, Danville, PA 17822, USA. Carey DJ; Geisinger Health System, Danville, PA 17822, USA. DeweyFE; Regeneron Genetics Center, Tarrytown, NY 10591, USA. Murray MF; Geisinger Health System, Danville, PA 17822, USA. .
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data.
Autorzy:
DeweyFE; Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America; Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America; Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America. Grove ME; Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America; Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America; Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America. Priest JR; Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America; Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America; Division of Pediatric Cardiology, Stanford University, Stanford, California, United States of America. Waggott D; Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America; Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America. Batra P; Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America; Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America. Miller CL; Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America; Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America. Wheeler M; Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America; Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America; Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America. Zia A; Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California, United States of America; Department of Genetics, Stanford University, Stanford, California, United States of America. Pan C; Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California, United States of America; Department of Genetics, Stanford University, Stanford, California, United States of America. Karzcewski KJ; Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California, United States of America; Department of Genetics, Stanford University, Stanford, California, United States of America; Biomedical Informatics Training Program, Stanford University, Stanford, California, United States of America. Miyake C; Division of Pediatric Cardiology, Stanford University, Stanford, California, United States of America. Whirl-Carrillo M; Department of Genetics, Stanford University, Stanford, California, United States of America. Klein TE; Department of Genetics, Stanford University, Stanford, California, United States of America. Datta S; Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California, United States of America. Altman RB; Department of Genetics, Stanford University, Stanford, California, United States of America. Snyder M; Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California, United States of America; Department of Genetics, Stanford University, Stanford, California, United States of America. Quertermous T; Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America; Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America. Ashley EA; Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America; Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America; Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America; Department of Genetics, Stanford University, Stanford, California, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2015 Oct 08; Vol. 11 (10), pp. e1005496. Date of Electronic Publication: 2015 Oct 08 (Print Publication: 2015).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
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