Your browser doesn't support javascript.
loading
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Cheng, Hanyin; Dharmadhikari, Avinash V; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F; Yoon, Margaret; Stray-Pedersen, Asbjørg; Posey, Jennifer E; Crews, Sarah R; Eldomery, Mohammad K; Akdemir, Zeynep Coban; Lewis, Andrea M; Sutton, Vernon R; Rosenfeld, Jill A; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A; van Slegtenhorst, Marjon A; Mancini, Grazia M S; Finnila, Candice R; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S; Bernier, Raphael A; Küry, Sébastien; Nizon, Mathilde; Corbett, Mark A; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S; Van Dijck, Anke; Vandeweyer, Geert.
Affiliation
  • 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 o
  • 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, No
  • 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.
Am J Hum Genet ; 102(5): 985-994, 2018 05 03.
Article in En | MEDLINE | ID: mdl-29656860
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Abnormalities, Multiple / Genetic Predisposition to Disease / N-Terminal Acetyltransferase A / N-Terminal Acetyltransferase E / Autism Spectrum Disorder / Intellectual Disability Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Year: 2018 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Abnormalities, Multiple / Genetic Predisposition to Disease / N-Terminal Acetyltransferase A / N-Terminal Acetyltransferase E / Autism Spectrum Disorder / Intellectual Disability Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Year: 2018 Type: Article