المؤلفون: Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, United States.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States., Mathison AJ; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, United States., Stodola T; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States., Evans DB; Division of Surgical Oncology, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; LaBahn Pancreatic Cancer Program, Medical College of Wisconsin, Milwaukee, WI, United States., Abrudan JL; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, United States., Demos W; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, United States., Tschannen M; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, United States., Aldakkak M; Division of Surgical Oncology, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States., Geurts J; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, United States.; Genetic Counseling Program, Medical College of Wisconsin, Milwaukee, WI, United States., Lomberk G; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, United States.; LaBahn Pancreatic Cancer Program, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, WI, United States., Tsai S; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Surgical Oncology, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; LaBahn Pancreatic Cancer Program, Medical College of Wisconsin, Milwaukee, WI, United States., Urrutia R; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, United States.; LaBahn Pancreatic Cancer Program, Medical College of Wisconsin, Milwaukee, WI, United States.

المصدر: Frontiers in oncology [Front Oncol] 2021 Mar 05; Vol. 11, pp. 606820. Date of Electronic Publication: 2021 Mar 05 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE

المؤلفون: Sheppard S; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Biswas S; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Li MH; Division of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA., Jayaraman V; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Slack I; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Romasko EJ; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sasson A; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Brunton J; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rajagopalan R; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sarmady M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Abrudan JL; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Jairam S; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., DeChene ET; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Ying X; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Choi J; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wilkens A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Raible SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Scarano MI; Division of Genetics, Cooper University Health Care, Camden, NY, USA., Santani A; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pennington JW; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Luo M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Conlin LK; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Devkota B; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dulik MC; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Spinner NB; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Krantz ID; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. krantz@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. krantz@email.chop.edu.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Dec; Vol. 20 (12), pp. 1663-1676. Date of Electronic Publication: 2018 Jun 15.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing* , Pathology, Molecular* , Exome Sequencing*, Hearing Loss/*genetics, Child, Preschool ; Exome/genetics ; Female ; Hearing Loss/diagnosis ; Hearing Loss/pathology ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Phenotype

المؤلفون: Gulia-Nuss M; Department of Entomology, Purdue University, West Lafayette, Indiana 47907, USA., Nuss AB; Department of Entomology, Purdue University, West Lafayette, Indiana 47907, USA., Meyer JM; Department of Entomology, Purdue University, West Lafayette, Indiana 47907, USA., Sonenshine DE; Department of Biological Sciences, Old Dominion University, Norfolk, Virginina 23529, USA., Roe RM; Department of Entomology, North Carolina State University, Raleigh, North Carolina 27695, USA., Waterhouse RM; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.; Swiss Institute of Bioinformatics, Geneva 1211, Switzerland.; Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Sattelle DB; Centre for Respiratory Biology, UCL Respiratory Department, Division of Medicine, University College London, Rayne Building, 5 University Street, London WC1E 6JF, UK., de la Fuente J; SaBio, Instituto de Investigación en Recursos Cinegéticos, IREC-CSIC-UCLM-JCCM, Ronda de Toledo sn, Ciudad Real 13005, Spain.; Department of Veterinary Pathobiology, Center for Veterinary Health Sciences, Oklahoma State University, 250 McElroy Hall, Stillwater, Oklahama 74078, USA., Ribeiro JM; Laboratory of Malaria and Vector Research, NIAID, Rockville, Maryland 20852, USA., Megy K; VectorBase/EMBL-EBI, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK., Thimmapuram J; Bioinformatics Core, Purdue University, West Lafayette, Indiana 47907, USA., Miller JR; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Walenz BP; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Koren S; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Hostetler JB; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Thiagarajan M; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Joardar VS; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Hannick LI; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Bidwell S; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Hammond MP; VectorBase/EMBL-EBI, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK., Young S; Genome Sequencing and Analysis Program, Broad Institute, Cambridge, Massachusetts 02142, USA., Zeng Q; Genome Sequencing and Analysis Program, Broad Institute, Cambridge, Massachusetts 02142, USA., Abrudan JL; Department of Biological Sciences, University of Notre Dame, Notre Dame, Indiana 46556, USA., Almeida FC; Departament de Genètica &Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona, Barcelona E-08028, Spain., Ayllón N; SaBio, Instituto de Investigación en Recursos Cinegéticos, IREC-CSIC-UCLM-JCCM, Ronda de Toledo sn, Ciudad Real 13005, Spain., Bhide K; Bioinformatics Core, Purdue University, West Lafayette, Indiana 47907, USA., Bissinger BW; Department of Entomology, North Carolina State University, Raleigh, North Carolina 27695, USA., Bonzon-Kulichenko E; Vascular Physiopathology, Centro Nacional de Investigaciones Cardiovasculares, Madrid 28029, Spain., Buckingham SD; Centre for Respiratory Biology, UCL Respiratory Department, Division of Medicine, University College London, Rayne Building, 5 University Street, London WC1E 6JF, UK., Caffrey DR; Department of Medicine, Division of Infectious Diseases, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA., Caimano MJ; Department of Medicine, University of Connecticut Health Center, Farmington, Connecticut 06030, USA., Croset V; Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Lausanne CH-1015, Switzerland., Driscoll T; Genetics, Bioinformatics, and Computational Biology Program, Virginia Bioinformatics Institute at Virginia Tech, Blacksburg, Virginia 24061, USA., Gilbert D; Department of Biology, Indiana University, Bloomington, Indiana 47405, USA., Gillespie JJ; Genetics, Bioinformatics, and Computational Biology Program, Virginia Bioinformatics Institute at Virginia Tech, Blacksburg, Virginia 24061, USA., Giraldo-Calderón GI; Department of Entomology, Purdue University, West Lafayette, Indiana 47907, USA.; Department of Biological Sciences, University of Notre Dame, Notre Dame, Indiana 46556, USA., Grabowski JM; Department of Entomology, Purdue University, West Lafayette, Indiana 47907, USA.; Department Biological Sciences, Markey Center for Structural Biology, Purdue University, West Lafayette, Indiana 47907, USA., Jiang D; Department of Biochemistry, Virginia Tech, Blacksburg, Virginia 24061, USA., Khalil SMS; Department of Microbial Molecular Biology, Agricultural Genetic Engineering Research Institute, Giza 12619, Egypt., Kim D; Department of Entomology, Texas A&M University, College Station, Texas 77843, USA., Kocan KM; Department of Veterinary Pathobiology, Center for Veterinary Health Sciences, Oklahoma State University, 250 McElroy Hall, Stillwater, Oklahama 74078, USA., Koči J; Department of Entomology, Kansas State University, Manhattan, Kansas 66506, USA., Kuhn RJ; Department Biological Sciences, Markey Center for Structural Biology, Purdue University, West Lafayette, Indiana 47907, USA., Kurtti TJ; Department of Entomology, University of Minnesota, St Paul, Minnesota 55108, USA., Lees K; Department of Neurosystems, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, UK., Lang EG; Department of Entomology, Purdue University, West Lafayette, Indiana 47907, USA., Kennedy RC; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, California 94143, USA., Kwon H; Department of Entomology, Texas A&M University, College Station, Texas 77843, USA., Perera R; Department Biological Sciences, Markey Center for Structural Biology, Purdue University, West Lafayette, Indiana 47907, USA., Qi Y; Department of Biochemistry, Virginia Tech, Blacksburg, Virginia 24061, USA., Radolf JD; Department of Medicine, University of Connecticut Health Center, Farmington, Connecticut 06030, USA., Sakamoto JM; Department of Entomology, The Pennsylvania State University, University Park, Pennsylvania 16802, USA., Sánchez-Gracia A; Departament de Genètica &Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona, Barcelona E-08028, Spain., Severo MS; Department of Entomology, Center for Disease Vector Research, University of California, Riverside, California 92506, USA., Silverman N; Department of Medicine, Division of Infectious Diseases, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA., Šimo L; Department of Entomology, Kansas State University, Manhattan, Kansas 66506, USA., Tojo M; Department of Pathology, Cambridge Genomic Services, University of Cambridge, Cambridge CB2 1QP, UK.; Department of Physiology, School of Medicine-CIMUS-Instituto de Investigaciones Sanitarias, University of Santiago de Compostela, Santiago de Compostela 15782, Spain., Tornador C; Department of Experimental and Health Sciences, Universidad Pompeu Fabra, Barcelona 08003, Spain., Van Zee JP; Department of Entomology, Purdue University, West Lafayette, Indiana 47907, USA., Vázquez J; Vascular Physiopathology, Centro Nacional de Investigaciones Cardiovasculares, Madrid 28029, Spain., Vieira FG; Departament de Genètica &Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona, Barcelona E-08028, Spain., Villar M; SaBio, Instituto de Investigación en Recursos Cinegéticos, IREC-CSIC-UCLM-JCCM, Ronda de Toledo sn, Ciudad Real 13005, Spain., Wespiser AR; Department of Medicine, Division of Infectious Diseases, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA., Yang Y; Department of Entomology, Texas A&M University, College Station, Texas 77843, USA., Zhu J; Department of Entomology, North Carolina State University, Raleigh, North Carolina 27695, USA., Arensburger P; Department of Biological Sciences, California State Polytechnic University, Pomona, California 91768, USA., Pietrantonio PV; Department of Entomology, Texas A&M University, College Station, Texas 77843, USA., Barker SC; Parasitology Section, School of Chemistry &Molecular Biosciences, University of Queensland, Brisbane, Queensland 4072, Australia., Shao R; GeneCology Research Centre, Faculty of Science, Health, Education and Engineering, University of the Sunshine Coast, Maroochydore, Queensland 4556, Australia., Zdobnov EM; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.; Swiss Institute of Bioinformatics, Geneva 1211, Switzerland., Hauser F; Department of Biology, Center for Functional and Comparative Insect Genomics, University of Copenhagen, Copenhagen DK-2100, Denmark., Grimmelikhuijzen CJP; Department of Biology, Center for Functional and Comparative Insect Genomics, University of Copenhagen, Copenhagen DK-2100, Denmark., Park Y; Department of Entomology, Kansas State University, Manhattan, Kansas 66506, USA., Rozas J; Departament de Genètica &Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona, Barcelona E-08028, Spain., Benton R; Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Lausanne CH-1015, Switzerland., Pedra JHF; Department of Entomology, Center for Disease Vector Research, University of California, Riverside, California 92506, USA., Nelson DR; Department of Microbiology, Immunology &Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA., Unger MF; Department of Biological Sciences, University of Notre Dame, Notre Dame, Indiana 46556, USA., Tubio JMC; Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.; Department of Biochemistry, Genetics and Immunology, University of Vigo, Vigo 36310, Spain., Tu Z; Department of Biochemistry, Virginia Tech, Blacksburg, Virginia 24061, USA., Robertson HM; Department of Entomology, University of Illinois at Urbana-Champaign, Urbana, Illinois 61801, USA., Shumway M; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Sutton G; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Wortman JR; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Lawson D; VectorBase/EMBL-EBI, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK., Wikel SK; Department of Medical Sciences, Frank H. Netter MD School of Medicine at Quinnipiac University, Hamden, Connecticut 06518, USA., Nene VM; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Fraser CM; Institute for Genome Sciences, University of Maryland, School of Medicine, Baltimore, Maryland 21201, USA., Collins FH; Department of Biological Sciences, University of Notre Dame, Notre Dame, Indiana 46556, USA., Birren B; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Nelson KE; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Caler E; J. Craig Venter Institute, Rockville, Maryland 20850, USA., Hill CA; Department of Entomology, Purdue University, West Lafayette, Indiana 47907, USA.

المصدر: Nature communications [Nat Commun] 2016 Feb 09; Vol. 7, pp. 10507. Date of Electronic Publication: 2016 Feb 09.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Anaplasma phagocytophilum*, Arachnid Vectors/*genetics , Genome/*genetics , Ixodes/*genetics , Ligand-Gated Ion Channels/*genetics, Animals ; Gene Expression Profiling ; Genomics ; Lyme Disease/transmission ; Oocytes ; Xenopus laevis

المؤلفون: Li MH; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. lim@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. lim@email.chop.edu., Abrudan JL; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. AbrudanP@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. AbrudanP@email.chop.edu., Dulik MC; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. DulikM@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. DulikM@email.chop.edu., Sasson A; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. sassona@email.chop.edu., Brunton J; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. joshua.s.brunton@gmail.com.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. joshua.s.brunton@gmail.com., Jayaraman V; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. JayaramanV1@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. JayaramanV1@email.chop.edu., Dugan N; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. dugann@email.chop.edu.; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. dugann@email.chop.edu., Haley D; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. daniellemhaley@gmail.com.; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. daniellemhaley@gmail.com., Rajagopalan R; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. rajagopalanr@email.chop.edu.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. rajagopalanr@email.chop.edu., Biswas S; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. biswass1@email.chop.edu., Sarmady M; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. sarmadym@email.chop.edu., DeChene ET; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. DecheneE@email.chop.edu.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. DecheneE@email.chop.edu., Deardorff MA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. DEARDORFF@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. DEARDORFF@email.chop.edu., Wilkens A; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Wilkens@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. Wilkens@email.chop.edu., Noon SE; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. NoonS@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. NoonS@email.chop.edu., Scarano MI; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. scaranom@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. scaranom@email.chop.edu., Santani AB; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. SANTANI@email.chop.edu.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. SANTANI@email.chop.edu., White PS; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. peter.white@cchmc.org.; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. peter.white@cchmc.org.; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. peter.white@cchmc.org.; Present address: Department of Pediatrics, Cincinnati Children's Hospital and Medical Center, and Department of Biomedical Informatics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA. peter.white@cchmc.org., Pennington J; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. penningtonj@email.chop.edu., Conlin LK; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. conlinl@email.chop.edu.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. conlinl@email.chop.edu., Spinner NB; Department of Pathology & Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. SPINNER@email.chop.edu.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. SPINNER@email.chop.edu., Krantz ID; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. KRANTZ@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Room 1012G, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. KRANTZ@email.chop.edu., Vetter VL; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. vetter@email.chop.edu.; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. vetter@email.chop.edu.

المصدر: Human genomics [Hum Genomics] 2015 Jul 19; Vol. 9, pp. 15. Date of Electronic Publication: 2015 Jul 19.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Death, Sudden, Cardiac* , Genomics*, Exome/*genetics , High-Throughput Nucleotide Sequencing/*methods, Adolescent ; Alleles ; Child ; Genome, Human ; Humans ; Sequence Analysis, DNA ; Young Adult

المؤلفون: Amendola LM; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Dorschner MO; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA;, Robertson PD; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;, Salama JS; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Hart R; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Shirts BH; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA;, Murray ML; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Pathology, University of Washington, Seattle, Washington 98195, USA;, Tokita MJ; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Gallego CJ; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Kim DS; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;, Bennett JT; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA;, Crosslin DR; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;, Ranchalis J; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Jones KL; Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA;, Rosenthal EA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Jarvik ER; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Itsara A; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Turner EH; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA;, Herman DS; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA;, Schleit J; Department of Pathology, University of Washington, Seattle, Washington 98195, USA;, Burt A; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Jamal SM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington 98195, USA;, Abrudan JL; Department of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA;, Johnson AD; The Framingham Heart Study, Division of Intramural Research, National Heart, Lung and Blood Institute, Framingham, Massachusetts 01702, USA;, Conlin LK; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA;, Dulik MC; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA;, Santani A; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA;, Metterville DR; Laboratory of Molecular Medicine, Partners Healthcare, Boston, Massachusetts 02115, USA;, Kelly M; Partners Healthcare Personalized Medicine, Partners Healthcare, Boston, Massachusetts 02115, USA;, Foreman AK; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA;, Lee K; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA;, Taylor KD; Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics at Harbor-UCLA, Torrence, California 90502, USA;, Guo X; Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics at Harbor-UCLA, Torrence, California 90502, USA;, Crooks K; Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27514, USA;, Kiedrowski LA; Department of Cancer Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA;, Raffel LJ; Medical Genetics Research Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA;, Gordon O; Medical Genetics Research Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA;, Machini K; Laboratory of Molecular Medicine, Partners Healthcare, Boston, Massachusetts 02115, USA; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA; Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA;, Desnick RJ; Department of Genetic and Genomic Medicine, Division of Medical Genetics, Mount Sinai Hospital, New York, New York 10029, USA;, Biesecker LG; Genetic Diseases Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA;, Lubitz SA; Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA;, Mulchandani S; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA;, Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA;, Joffe S; Department of Medical Ethics and Health Policy, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA;, Richards CS; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97239, USA;, Yang Y; Department of Pediatrics, Division of Infectious Disease, Los Angeles Biomedical Research Institute and Department of Pediatrics at Harbor-UCLA, Torrence, California 90502, USA;, Rotter JI; Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics at Harbor-UCLA, Torrence, California 90502, USA;, Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia 22908, USA;, O'Donnell CJ; The Framingham Heart Study, Division of Intramural Research, National Heart, Lung and Blood Institute, Framingham, Massachusetts 01702, USA; Division of Cardiology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA;, Berg JS; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA;, Spinner NB; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA;, Evans JP; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA;, Fullerton SM; Department of Bioethics and Humanities, University of Washington, Seattle, Washington 98195, USA;, Leppig KA; Genetic Services, Group Health Cooperative, Seattle, Washington 98112, USA;, Bennett RL; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Bird T; Department of Neurology, University of Washington, Seattle, Washington 98195, USA; Veterans Affairs Puget Sound Health Care System Geriatric Research, Education, and Clinical Center, Seattle, Washington 98108, USA;, Sybert VP; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Dermatology, Group Health Cooperative, Seattle, Washington 98112, USA;, Grady WM; Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA; Department of Medicine, Division of Gastroenterology, University of Washington, Seattle, Washington 98195, USA;, Tabor HK; Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington 98105, USA;, Kim JH; Department of Anesthesiology and Pain Medicine, University of Washington, Seattle, Washington 98195, USA;, Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA; Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA;, Wilfond B; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington 98105, USA; Department of Pediatrics, Division of Bioethics, University of Washington, Seattle, Washington 98195, USA., Motulsky AG; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;, Scott CR; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington 98195, USA;, Pritchard CC; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA;, Walsh TD; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Burke W; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Bioethics and Humanities, University of Washington, Seattle, Washington 98195, USA;, Raskind WH; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA;, Byers P; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Pathology, University of Washington, Seattle, Washington 98195, USA;, Hisama FM; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;, Rehm H; Laboratory of Molecular Medicine, Partners Healthcare, Boston, Massachusetts 02115, USA; Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA;, Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;, Jarvik GP; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

المصدر: Genome research [Genome Res] 2015 Mar; Vol. 25 (3), pp. 305-15. Date of Electronic Publication: 2015 Jan 30.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: Exome* , Genomics*/methods , Incidental Findings*, Adult ; Black People/genetics ; Female ; Gene Frequency ; Genes, Dominant ; Genetic Association Studies ; Genetic Testing ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; White People/genetics

المؤلفون: Nowling RJ; Department of Computer Science & Engineering, University of Notre Dame, Notre Dame, IN 46656, USA., Abrudan JL, Shoue DA, Abdul-Wahid B, Wadsworth M, Stayback G, Collins FH, McDowell MA, Izaguirre JA

المصدر: Parasites & vectors [Parasit Vectors] 2013 May 24; Vol. 6, pp. 150. Date of Electronic Publication: 2013 May 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Validation Study

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101462774 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-3305 (Electronic) Linking ISSN: 17563305 NLM ISO Abbreviation: Parasit Vectors Subsets: MEDLINE

مواضيع طبية MeSH: Arthropod Vectors/*genetics , Computational Biology/*methods , Entomology/*methods , Molecular Biology/*methods , Receptors, G-Protein-Coupled/*genetics, Aedes/genetics ; Animals ; Anopheles/genetics ; Gene Expression Profiling ; Pediculus/genetics ; Real-Time Polymerase Chain Reaction