Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

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Title: Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Authors: Cheng H; Baylor Genetics, Houston, TX, 77021, USA., Dharmadhikari AV; Baylor Genetics, Houston, TX, 77021, USA., Varland S; Department of Biomedicine, University of Bergen, N-5020 Bergen, Norway; Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway., Ma N; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Domingo D; School of Biological Sciences, Faculty of Genes and Evolution, the University of Adelaide, Adelaide, SA 5000, Australia., Kleyner R; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA., Rope AF; Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR 97227, USA., Yoon M; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA., Stray-Pedersen A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, N-0424 Oslo, and Institute of Clinical Medicine, University of Oslo, N-0318 Oslo, Norway., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Crews SR; Department of Pharmacology, Creighton University Medical School, Omaha, NE, 68178, USA., Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Conboy E; Department of Clinical Genomics, Mayo Clinic, MN 55905, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, MN 55905, USA., Xia F; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Walkiewicz M; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; The National Institute of Allergy and Infectious Disease, The National Institutes of Health, Bethesda, MD 20892, USA., Longoni M; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Harvard Medical School, Boston, MA 02114, USA., High FA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands., den Hollander N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands., Naidu S; Kennedy Krieger Institute, 801 North Broadway Baltimore, MD 21205, USA., Mahida S; Kennedy Krieger Institute, 801 North Broadway Baltimore, MD 21205, USA., Palmer EE; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW 2031, Australia., Murray L; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia., Lim D; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Mindelsohn Way, Birmingham B15 2TG, UK., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL 33155, USA., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK., Giusto S; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy., Stracuzzi E; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy., Romano C; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy., Beighley JS; Department of Psychiatry, University of Washington, Seattle WA, 98195, USA., Bernier RA; Department of Psychiatry, University of Washington, Seattle WA, 98195, USA., Küry S; Department of Medical Genetics, Centre Hospitalier Universitaire, Nantes 44093, France., Nizon M; Department of Medical Genetics, Centre Hospitalier Universitaire, Nantes 44093, France., Corbett MA; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia., Shaw M; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia., Gardner A; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia., Barnett C; Paediatric and Reproductive Genetics, South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, SA 5006, Australia., Armstrong R; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, SA 5006, Australia; School of Biological Sciences, University of Adelaide, Adelaide, SA 5000, Australia., Van Dijck A; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium., Vandeweyer G; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Schieving J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Jongmans MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9PL, UK; Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK., Rojas SK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Person R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium., Yang Y; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Wu JC; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX 77030, USA., Arnesen T; Department of Biomedicine, University of Bergen, N-5020 Bergen, Norway; Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Molecular Biology, University of Bergen, N-5020 Bergen, Norway., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032, USA., Gecz J; School of Biological Sciences, Faculty of Genes and Evolution, the University of Adelaide, Adelaide, SA 5000, Australia; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia., Stessman HAF; Department of Pharmacology, Creighton University Medical School, Omaha, NE, 68178, USA., Meng L; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: lmeng@bcm.edu., Lyon GJ; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address: gholsonjlyon@gmail.com.
Source: American journal of human genetics [Am J Hum Genet] 2018 May 03; Vol. 102 (5), pp. 985-994. Date of Electronic Publication: 2018 Apr 12.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2018.03.004