المؤلفون: Dalton K, Preston Cg, Steven M. Harrison, Lawrence J. Babb, Bryan Wulf, Heidi L. Rehm, Selina S. Dwight, Jimmy Zhen, J. M. Cherry, Deborah I. Ritter, Kristy Lee, Erin Rooney Riggs, Madhavrao R, Cheng S, Jessica L. Mester, Ronak Y. Patel, Matthew Wright, Tong H, Jennifer L. Goldstein, Carlos Bustamante, Julianne M. O’Daniel, Xi Luo, Hannah Wand, Cheung G, Helio A. Costa, Zastrow Db, Jonathan S. Berg, Mandell Me, Sai Lakshmi Subramanian, Sharon E. Plon, Alice B. Popejoy, Arturo Lopez Pineda, Michael A. Iacocca, Marina T. DiStefano, Aleksandar Milosavljevic

المصدر: Genome Medicine
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Process (engineering), Computer science, Interface (Java), Genomics, QH426-470, Variant curation, Resource (project management), Genetics, Humans, Genetic Testing, Clinical genetics, Molecular Biology, Genetics (clinical), Genome, Human, Suite, Precision medicine, Genetic Variation, Pathogenicity, Data science, Identification (information), Workflow, Clinical Genome Resource Consortium, Medicine, Molecular Medicine, Software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebcfcda7df773ca429b64266180178c9
https://pubmed.ncbi.nlm.nih.gov/35039090

المؤلفون: Preston CG; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Wright MW; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Madhavrao R; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Harrison SM; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Goldstein JL; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Luo X; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA., Wand H; Center for Inherited Cardiovascular Disease, Stanford Health Care, Stanford, CA, 94305, USA., Wulf B; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Cheung G; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Mandell ME; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Tong H; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Cheng S; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Iacocca MA; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Pineda AL; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA., Popejoy AB; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA., Dalton K; Department of Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA., Zhen J; Department of Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA., Dwight SS; Grace Science LLC, Menlo Park, CA, 94025, USA., Babb L; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., DiStefano M; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., O'Daniel JM; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Lee K; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Riggs ER; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, 17837, USA., Zastrow DB; Sutter Health, Mountain View, CA, 94040, USA., Mester JL; GeneDx Inc., Gaithersburg, MD, 20877, USA., Ritter DI; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA., Patel RY; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Subramanian SL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Milosavljevic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Berg JS; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., Plon SE; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Cherry JM; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA., Bustamante CD; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA., Costa HA; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA. hcosta@stanford.edu.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA. hcosta@stanford.edu.

مؤلفون مشاركون: Clinical Genome Resource (ClinGen)

المصدر: Genome medicine [Genome Med] 2022 Jan 18; Vol. 14 (1), pp. 6. Date of Electronic Publication: 2022 Jan 18.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation* , Genome, Human*, Humans ; Genetic Testing ; Genomics

المؤلفون: Chen YH; Translational Gastroenterology Unit, University of Oxford, Oxford, United Kingdom., Zastrow DB; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif., Metcalfe RD; Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, Australia., Gartner L; Translational Gastroenterology Unit, University of Oxford, Oxford, United Kingdom., Krause F; Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany., Morton CJ; Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, Australia., Marwaha S; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif., Fresard L; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif; Department of Pathology, Stanford School of Medicine, Stanford, Calif., Huang Y; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif., Zhao C; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif., McCormack C; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif., Bick D; Hudson Alpha Institute for Biotechnology, Huntsville, Ala., Worthey EA; Hudson Alpha Institute for Biotechnology, Huntsville, Ala., Eng CM; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif; Baylor College of Medicine, Houston, Tex., Gold J; Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif., Undiagnosed Diseases Network; National Institutes of Health Undiagnosed Diseases Network, Common Fund, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, Md., Montgomery SB; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif; Department of Pathology, Stanford School of Medicine, Stanford, Calif; Department of Genetics, Stanford University School of Medicine, Stanford, Calif., Fisher PG; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif; Department of Neurology, Stanford University School of Medicine, Stanford University, Stanford, Calif., Ashley EA; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif; Department of Genetics, Stanford University School of Medicine, Stanford, Calif., Wheeler MT; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif; Department of Medicine, Stanford School of Medicine, Stanford, Calif., Parker MW; Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, Australia; St Vincent's Institute of Medical Research, Melbourne, Australia., Shanmugasundaram V; Bristol-Myers Squibb, Cambridge, Mass., Putoczki TL; Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology, The University of Melbourne, Melbourne, Australia., Schmidt-Arras D; Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany., Laurence A; Translational Gastroenterology Unit, University of Oxford, Oxford, United Kingdom. Electronic address: arian.laurence@ndm.ox.ac.uk., Bernstein JA; Center for Undiagnosed Diseases, Stanford University, Stanford, Calif; Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif., Griffin MDW; Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, Australia., Uhlig HH; Translational Gastroenterology Unit, University of Oxford, Oxford, United Kingdom; Department of Paediatrics, University of Oxford, Oxford, United Kingdom; Oxford National Institute for Health Research Biomedical Research Centre, Oxford, United Kingdom.

المصدر: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2021 Aug; Vol. 148 (2), pp. 585-598. Date of Electronic Publication: 2021 Mar 23.

نوع المنشور: Case Reports; Clinical Trial; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Cytokine Receptor gp130*/chemistry , Cytokine Receptor gp130*/genetics , Cytokine Receptor gp130*/immunology , Job Syndrome*/genetics , Job Syndrome*/immunology , Molecular Dynamics Simulation* , Mutation, Missense*, Child ; Cytokines/genetics ; Cytokines/immunology ; Genes, Recessive ; Humans ; Male ; RNA-Seq ; Signal Transduction/genetics ; Signal Transduction/immunology ; Exome Sequencing

المؤلفون: Bonder MJ; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge, UK. bondermj@gmail.com.; European Molecular Biology Laboratory, Genome Biology Unit, Heidelberg, Germany. bondermj@gmail.com.; Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany. bondermj@gmail.com., Smail C; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA. csmail@stanford.edu.; Genomic Medicine Center, Children's Mercy Research Institute and Children's Mercy Kansas City, Kansas City, MO, USA. csmail@stanford.edu., Gloudemans MJ; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA., Frésard L; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA., Jakubosky D; Biomedical Sciences Graduate Program, University of California, San Diego, La Jolla, CA, USA.; Department of Biomedical Informatics, University of California, San Diego, La Jolla, CA, USA., D'Antonio M; Department of Pediatrics and Rady Children's Hospital, University of California, San Diego, La Jolla, CA, USA., Li X; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China., Ferraro NM; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA., Carcamo-Orive I; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Mirauta B; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge, UK., Seaton DD; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge, UK., Cai N; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Helmholtz Pioneer Campus, Helmholtz Zentrum München, Neuherberg, Germany., Vakili D; UCL Great Ormond Street Institute of Child Health, University College London, London, UK.; Faculty of Medicine, Imperial College London, London, UK., Horta D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge, UK., Zhao C; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Zastrow DB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Bonner DE; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Wheeler MT; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Kilpinen H; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; UCL Great Ormond Street Institute of Child Health, University College London, London, UK.; Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.; Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland., Knowles JW; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Smith EN; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA, USA., Frazer KA; Department of Pediatrics and Rady Children's Hospital, University of California, San Diego, La Jolla, CA, USA.; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA, USA., Montgomery SB; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA. smontgom@stanford.edu.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA. smontgom@stanford.edu., Stegle O; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge, UK. oliver.stegle@embl.de.; European Molecular Biology Laboratory, Genome Biology Unit, Heidelberg, Germany. oliver.stegle@embl.de.; Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany. oliver.stegle@embl.de.; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK. oliver.stegle@embl.de.

مؤلفون مشاركون: HipSci Consortium, iPSCORE consortium, Undiagnosed Diseases Network, PhLiPS consortium

المصدر: Nature genetics [Nat Genet] 2021 Mar; Vol. 53 (3), pp. 313-321. Date of Electronic Publication: 2021 Mar 04.

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. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation* , Quantitative Trait Loci*, Induced Pluripotent Stem Cells/*physiology, Bardet-Biedl Syndrome/genetics ; Calcium Channels/genetics ; Cell Line ; Cerebellar Ataxia/genetics ; DNA Methylation ; Gene Expression ; Humans ; Induced Pluripotent Stem Cells/cytology ; Polymorphism, Single Nucleotide ; Proteins/genetics ; Rare Diseases/genetics ; Regulatory Sequences, Nucleic Acid ; Sequence Analysis, RNA ; Whole Genome Sequencing

المؤلفون: Burke EA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Sturgeon M; Department of Pediatrics, University of Iowa, Iowa City, IA, USA., Zastrow DB; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA., Fernandez L; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA., Prybol C; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA., Marwaha S; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA., Frothingham EP; Mid-Valley Children's Clinic, Albany, OR, USA., Ward PA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Fresard L; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA., Montgomery SB; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA., Enns GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Fisher PG; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA., Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Harding B; Departments of Pathology and Lab Medicine (Neuropathology), Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Carrington B; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Bishop K; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Sood R; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Huang Y; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Elkahloun A; Microarray Core, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, IA, USA., Wheeler MT; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA., Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.

المصدر: Journal of neurogenetics [J Neurogenet] 2021 Mar-Jun; Vol. 35 (2), pp. 74-83. Date of Electronic Publication: 2021 May 10.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8406473 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1563-5260 (Electronic) Linking ISSN: 01677063 NLM ISO Abbreviation: J Neurogenet Subsets: MEDLINE

مواضيع طبية MeSH: Myoclonic Epilepsies, Progressive/*genetics , Potassium Channels/*genetics, Animals ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Mutation ; Myoclonic Epilepsies, Progressive/physiopathology ; Pedigree ; Phenotype ; Zebrafish

المؤلفون: Frésard L; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA. lfresard@stanford.edu., Smail C; Biomedical Informatics Program, Stanford University, Stanford, CA, USA., Ferraro NM; Biomedical Informatics Program, Stanford University, Stanford, CA, USA., Teran NA; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA., Li X; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA., Smith KS; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA., Bonner D; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Kernohan KD; Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Marwaha S; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Stanford Cardiovascular Institute, School of Medicine, Stanford University, Stanford, CA, USA., Zappala Z; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA., Balliu B; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA., Davis JR; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA., Liu B; Department of Biology, School of Humanities and Sciences, Stanford University, Stanford, CA, USA., Prybol CJ; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA., Kohler JN; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Zastrow DB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Reuter CM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Fisk DG; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA., Grove ME; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA., Davidson JM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Joshi R; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA., Strober BJ; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Utiramerur S; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA., Lind L; Department of Medical Sciences, Cardiovascular Epidemiology, Uppsala University, Uppsala, Sweden., Ingelsson E; Stanford Cardiovascular Institute, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA., Battle A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Bejerano G; Department of Computer Science, Stanford University, Stanford, CA, USA.; Department of Pediatrics, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Developmental Biology, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA., Bernstein JA; Department of Pediatrics, School of Medicine, Stanford University, Stanford, CA, USA., Ashley EA; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Merker JD; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA.; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA.; Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School Medicine, Chapel Hill, NC, USA., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Stanford Cardiovascular Institute, School of Medicine, Stanford University, Stanford, CA, USA., Montgomery SB; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA. smontgom@stanford.edu.; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA. smontgom@stanford.edu.

مؤلفون مشاركون: Undiagnosed Diseases Network, Care4Rare Canada Consortium

المصدر: Nature medicine [Nat Med] 2019 Jun; Vol. 25 (6), pp. 911-919. Date of Electronic Publication: 2019 Jun 03.

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

بيانات الدورية: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

مواضيع طبية MeSH: Rare Diseases/*genetics, Acid Ceramidase/genetics ; Case-Control Studies ; Child ; Child, Preschool ; Cohort Studies ; Female ; Genetic Variation ; Humans ; Male ; Models, Genetic ; Mutation ; Oxidoreductases Acting on CH-CH Group Donors/genetics ; Potassium Channels/genetics ; RNA/blood ; RNA/genetics ; RNA Splicing/genetics ; Rare Diseases/blood ; Sequence Analysis, RNA ; Exome Sequencing

المؤلفون: Kumar A; Department of Pediatrics, Stanford School of Medicine, Stanford, California., Zastrow DB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California., Kravets EJ; Department of Pediatrics, Stanford School of Medicine, Stanford, California., Beleford D; Institute for Human Genetics and Division of Medical Genetics, Pediatrics, San Francisco, California., Ruzhnikov MRZ; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Department of Neurology, Stanford School of Medicine, Stanford, California., Grove ME; Clinical Genomics Program, Stanford Health Care, Stanford, California., Dries AM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California., Kohler JN; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California., Waggott DM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California., Yang Y; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Huang Y; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California., Mackenzie KM; Department of Neurology, Stanford School of Medicine, Stanford, California., Eng CM; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Fisher PG; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Department of Neurology, Stanford School of Medicine, Stanford, California., Ashley EA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Department of Medicine, Stanford University School of Medicine, Stanford, California.; Department of Genetics, Stanford School of Medicine, Stanford, California., Teng JM; Department of Dermatology, Stanford School of Medicine, Stanford, California., Stevenson DA; Department of Pediatrics, Stanford School of Medicine, Stanford, California., Shieh JT; Institute for Human Genetics and Division of Medical Genetics, Pediatrics, San Francisco, California., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Department of Medicine, Stanford University School of Medicine, Stanford, California., Bernstein JA; Department of Pediatrics, Stanford School of Medicine, Stanford, California.; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jun; Vol. 179 (6), pp. 966-977. Date of Electronic Publication: 2019 Mar 28.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype*, Neurocutaneous Syndromes/*diagnosis, Alleles ; Child ; Diagnosis, Differential ; GTP-Binding Protein alpha Subunits/genetics ; GTP-Binding Protein alpha Subunits, Gq-G11/genetics ; Genotype ; Humans ; Infant ; Magnetic Resonance Angiography ; Magnetic Resonance Imaging ; Male ; Mutation ; Neurocutaneous Syndromes/genetics ; Skin/pathology ; Exome Sequencing

SCR Disease Name: Phacomatosis pigmentovascularis

المؤلفون: Zastrow DB; Center for Undiagnosed Diseases, Stanford University, Stanford, California., Kohler JN; Center for Undiagnosed Diseases, Stanford University, Stanford, California., Bonner D; Center for Undiagnosed Diseases, Stanford University, Stanford, California., Reuter CM; Center for Undiagnosed Diseases, Stanford University, Stanford, California., Fernandez L; Center for Undiagnosed Diseases, Stanford University, Stanford, California., Grove ME; Clinical Genomics Program, Stanford Health Care, Stanford, California., Fisk DG; Clinical Genomics Program, Stanford Health Care, Stanford, California., Yang Y; Baylor College of Medicine, Houston, Texas., Eng CM; Baylor College of Medicine, Houston, Texas., Ward PA; Baylor College of Medicine, Houston, Texas., Bick D; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Worthey EA; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Fisher PG; Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Department of Neurology, Stanford University School of Medicine, Stanford, California.; Department of Pediatrics, Stanford University School of Medicine, Stanford, California., Ashley EA; Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Clinical Genomics Program, Stanford Health Care, Stanford, California.; Department of Genetics, Stanford University School of Medicine, Stanford, California.; Department of Medicine, Stanford University School of Medicine, Stanford, California., Bernstein JA; Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Department of Pediatrics, Stanford University School of Medicine, Stanford, California., Wheeler MT; Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Department of Medicine, Stanford University School of Medicine, Stanford, California.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: Journal of genetic counseling [J Genet Couns] 2019 Apr; Vol. 28 (2), pp. 213-228.

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

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Exome Sequencing*, Rare Diseases/*diagnosis , Undiagnosed Diseases/*genetics, Exome ; Female ; Follow-Up Studies ; Humans ; Male ; Phenotype ; Rare Diseases/genetics ; Sequence Analysis, DNA

المؤلفون: Zastrow DB; Palo Alto Medical Foundation, Palo Alto, California.; Stanford University, Stanford, California., Baudet H; University of North Carolina, Chapel Hill, North Carolina., Shen W; ARUP Laboratories, Salt Lake City, Utah.; University of Utah, Salt Lake City, Utah., Thomas A; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York., Si Y; GeneDx, Gaithersburg, Maryland., Weaver MA; American College of Medical Genetics and Genomics, Bethesda, Maryland., Lager AM; Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, Illinois., Liu J; Marshfield Clinic Research Institute, Marshfield, Wisconsin., Mangels R; Stanford University, Stanford, California., Dwight SS; Stanford University, Stanford, California., Wright MW; Stanford University, Stanford, California., Dobrowolski SF; University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Eilbeck K; University of Utah, Salt Lake City, Utah., Enns GM; Stanford University, Stanford, California., Feigenbaum A; Rady Children's Hospital and University of California, San Diego, California., Lichter-Konecki U; Children's Hospital of Pittsburg of UPMC, University of Pittsburgh, Pittsburgh, Pennsylvania., Lyon E; ARUP Laboratories, Salt Lake City, Utah.; University of Utah, Salt Lake City, Utah., Pasquali M; ARUP Laboratories, Salt Lake City, Utah.; University of Utah, Salt Lake City, Utah., Watson M; American College of Medical Genetics and Genomics, Bethesda, Maryland., Blau N; Dietmar-Hopp Metabolic Center, University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany., Steiner RD; Marshfield Clinic Research Institute, Marshfield, Wisconsin.; University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Craigen WJ; Baylor College of Medicine, Houston, Texas., Mao R; ARUP Laboratories, Salt Lake City, Utah.; University of Utah, Salt Lake City, Utah.

مؤلفون مشاركون: ClinGen Inborn Errors of Metabolism Working Group

المصدر: Human mutation [Hum Mutat] 2018 Nov; Vol. 39 (11), pp. 1569-1580.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat

مواضيع طبية MeSH: Genome, Human/*genetics , Metabolism, Inborn Errors/*genetics , Phenylalanine Hydroxylase/*genetics, Databases, Genetic ; Gene Frequency/genetics ; Genetic Testing ; Genetic Variation/genetics ; Humans

المؤلفون: Zastrow DB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Zornio PA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Dries A; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Kohler J; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Fernandez L; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Waggott D; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Walkiewicz M; Baylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA., Eng CM; Baylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA., Manning MA; Department of Pathology, Stanford School of Medicine, Stanford, California 94305, USA.; Department of Pediatrics, Stanford School of Medicine, Stanford, California 94305, USA., Farrelly E; Lucille Packard Children's Hospital Stanford, Palo Alto, California 94304, USA., Fisher PG; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Department of Pediatrics, Stanford School of Medicine, Stanford, California 94305, USA.; Department of Neurology, Stanford School of Medicine, Stanford, California 94304, USA., Ashley EA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.; Department of Genetics, Stanford School of Medicine, Stanford, California 94305, USA., Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Department of Pediatrics, Stanford School of Medicine, Stanford, California 94305, USA.; Lucille Packard Children's Hospital Stanford, Palo Alto, California 94304, USA., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2017 Jan; Vol. 3 (1), pp. a001388.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Print Cited Medium: Print ISSN: 2373-2873 (Print) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: PubMed not MEDLINE