Identification and characterization of centromeric sequences in Xenopus laevis .

Autor: Smith OK; Department of Biochemistry, Stanford University School of Medicine, Stanford, California 94305-5307, USA.; Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, California 94305, USA., Limouse C; Department of Biochemistry, Stanford University School of Medicine, Stanford, California 94305-5307, USA., Fryer KA; Department of Biochemistry, Stanford University School of Medicine, Stanford, California 94305-5307, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305-5120, USA., Teran NA; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305-5120, USA., Sundararajan K; Department of Biochemistry, Stanford University School of Medicine, Stanford, California 94305-5307, USA., Heald R; Department of Molecular and Cell Biology, University of California Berkeley, Berkeley, California 94720-3200, USA., Straight AF; Department of Biochemistry, Stanford University School of Medicine, Stanford, California 94305-5307, USA.

Publikováno v: Genome research [Genome Res] 2021 Jun; Vol. 31 (6), pp. 958-967. Date of Electronic Publication: 2021 Apr 19.

Uncovering Deletion/Insertion Mutations in Veno-Occlusive Disease with Immunodeficiency Syndrome in An Iranian Family: A Case Report.

Autor: Mohammadi, Parastoo¹, Noruzinia, Mehrdad² Noruzinia@modares.ac.ir, Ebadi, Mostafa¹, Ghoraeian, Pegah³

Publikováno v: Cell Journal (Yakhteh). Aug2024, Vol. 26 Issue 8, p515-522. 8p.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

Autor: 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.

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

Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension.

Autor: Wang, Xiaomeng^1,2, Ling, Zhengbao², Luo, Tengfei², Zhou, Qiao^1,3, Zhao, Guihu^1,3,4, Li, Bin^1,3,4, Xia, Kun^2,5 xiakun@sklmg.edu.cn, Li, Jinchen^1,2,3,4 lijinchen@csu.edu.cn

Publikováno v: Journal of Autism & Developmental Disorders. Feb2024, Vol. 54 Issue 2, p749-764. 16p.

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

Autor: Sanders SJ; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: stephan.sanders@ucsf.edu., He X; Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA., Willsey AJ; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA., Ercan-Sencicek AG; Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT 06520, USA., Samocha KE; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02114, USA., Cicek AE; Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA 15213, USA; Department of Computer Engineering, Bilkent University, Ankara, 0680, Turkey., Murtha MT; Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT 06520, USA., Bal VH; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA., Bishop SL; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA., Dong S; Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871, People's Republic of China., Goldberg AP; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Jinlu C; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Keaney JF 3rd; Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT 06520, USA., Klei L; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA., Mandell JD; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA., Moreno-De-Luca D; Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06520, USA., Poultney CS; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Robinson EB; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Smith L; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA., Solli-Nowlan T; TheLab, Inc., Los Angeles, CA 90068, USA., Su MY; Program in Biophysics, Harvard University, Boston, MA 02115, USA., Teran NA; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Walker MF; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA., Werling DM; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA., Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, T617, Houston, TX 77030, USA., Cantor RM; Departments of Human Genetics and Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, 695 Charles E. Young Drive South, Los Angeles, CA 90095-7088, USA., Fombonne E; Department of Psychiatry and Institute for Development and disability, Oregon Health & Science University, Portland, OR 97239, USA., Geschwind DH; Neurogenetics Program, Department of Neurology and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Grice DE; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Lord C; Center for Autism and the Developing Brain, Weill Cornell Medical College, White Plains, NY 10605, USA., Lowe JK; Neurogenetics Program, Department of Neurology and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Mane SM; Yale Center for Genomic Analysis, Yale University School of Medicine, New Haven, CT 06520, USA., Martin DM; Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA., Morrow EM; Department of Molecular Biology, Cell Biology and Biochemistry and Department of Psychiatry and Human Behavior, Brown University, 70 Ship Street, Box G-E4, Providence, RI 02912, USA., Talkowski ME; Center for Human Genetic Research, Departments of Neurology, Psychiatry, and Pathology, Massachusetts General Hospital, Boston, MA 02114, USA., Sutcliffe JS; Department of Molecular Physiology & Biophysics, 6133 MRB III, Center for Molecular Neuroscience, Vanderbilt University, Nashville, TN 37232, USA., Walsh CA; Howard Hughes Medical Institute and Division of Genetics and Genomics, Children's Hospital Boston, and Neurology and Pediatrics, Harvard Medical School Center for Life Sciences, 3 Blackfan Circle, Boston, MA 02115, USA., Yu TW; Howard Hughes Medical Institute and Division of Genetics and Genomics, Children's Hospital Boston, and Neurology and Pediatrics, Harvard Medical School Center for Life Sciences, 3 Blackfan Circle, Boston, MA 02115, USA., Ledbetter DH; Autism & Developmental Medicine Institute, Geisinger Health System, Danville, PA 17822, USA., Martin CL; Autism & Developmental Medicine Institute, Geisinger Health System, Danville, PA 17822, USA., Cook EH; Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, 1747 W. Roosevelt Road, Room 155, Chicago, IL 60637 USA., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Daly MJ; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Devlin B; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA., Roeder K; Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA 15213, USA; Department of Statistics, Carnegie Mellon University, Pittsburgh, PA 15213, USA., State MW; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: matthew.state@ucsf.edu.

Publikováno v: Neuron [Neuron] 2015 Sep 23; Vol. 87 (6), pp. 1215-1233.