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Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Melland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; John, Abinayah; Constantinou, Panayiotis; Joss, Shelagh; Larsen, Martin; Fagerberg, Christina; Laulund, Lone Walentin; Thies, Jenny; Emslie, Frances; Willemsen, Marjolein; Kleefstra, Tjitske; Pfundt, Rolf; Barrick, Rebekah; Chang, Richard; Loong, Lucy; Alfadhel, Majid; van der Smagt, Jasper; Nizon, Mathilde; Kurian, Manju A; Scott, Daniel J; Ziarek, Joshua J; Gordon, Sarah L; Baker, Kate.
Affiliation
  • Melland H; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia; Melbourne Dementia Research Centre, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.
  • Bumbak F; Department of Molecular and Cellular Biochemistry, College of Arts + Sciences, Indiana University Bloomington, Bloomington, IN.
  • Kolesnik-Taylor A; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom.
  • Ng-Cordell E; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom.
  • John A; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom.
  • Constantinou P; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, United Kingdom.
  • Joss S; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, United Kingdom.
  • Larsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Laulund LW; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
  • Thies J; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.
  • Emslie F; South West Thames Regional Genetics Service and St George's University of London, London, United Kingdom.
  • Willemsen M; Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kleefstra T; Radboud University Medical Center, Nijmegen, The Netherlands; Vincent van Gogh Centre for Neuropsychiatry, Venray, The Netherlands.
  • Pfundt R; Radboud University Medical Center, Nijmegen, The Netherlands.
  • Barrick R; Children's Hospital of Orange County, Orange, CA.
  • Chang R; Children's Hospital of Orange County, Orange, CA.
  • Loong L; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
  • Alfadhel M; Genetics and Precision Medicine department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard
  • van der Smagt J; Utrecht University Medical Centre, Utrecht, The Netherlands.
  • Nizon M; Service de Génétique Médicale, CHU de Nantes, INSERM, Université de Nantes, Nantes, France.
  • Kurian MA; Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Scott DJ; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.
  • Ziarek JJ; Department of Molecular and Cellular Biochemistry, College of Arts + Sciences, Indiana University Bloomington, Bloomington, IN.
  • Gordon SL; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia; Melbourne Dementia Research Centre, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.
  • Baker K; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom. Electronic address: kate.baker@mrc-cbu.cam.ac.uk.
Genet Med ; 24(4): 880-893, 2022 04.
Article in En | MEDLINE | ID: mdl-35101335
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Synaptotagmin I / Neurodevelopmental Disorders / Intellectual Disability / Movement Disorders Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Australia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Synaptotagmin I / Neurodevelopmental Disorders / Intellectual Disability / Movement Disorders Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Australia