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Original article
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

Authors

  • Maria Tropeano MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, Arcavacata di Rende, CS, Italy PubMed articlesGoogle scholar articles
  • Deirdre Howley Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK Adult Autism Spectrum and ADHD Services, Behavioural and Developmental Psychiatry, Clinical Academic Group, King's Health Partners, London, UK Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Matthew J Gazzellone The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • C Ellie Wilson Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK Adult Autism Spectrum and ADHD Services, Behavioural and Developmental Psychiatry, Clinical Academic Group, King's Health Partners, London, UK Individual Differences, Language and Cognition Lab, Department of Developmental and Educational Psychology, University of Seville, Seville, Spain PubMed articlesGoogle scholar articles
  • Joo Wook Ahn Department of Cytogenetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Dimitri J Stavropoulos Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Clodagh M Murphy Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK Adult Autism Spectrum and ADHD Services, Behavioural and Developmental Psychiatry, Clinical Academic Group, King's Health Partners, London, UK PubMed articlesGoogle scholar articles
  • Peggy S Eis Population Diagnostics, Inc., Melville, New York, USA PubMed articlesGoogle scholar articles
  • Eli Hatchwell Population Diagnostics, Inc., Melville, New York, USA PubMed articlesGoogle scholar articles
  • Richard J B Dobson MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK PubMed articlesGoogle scholar articles
  • Dene Robertson Adult Autism Spectrum and ADHD Services, Behavioural and Developmental Psychiatry, Clinical Academic Group, King's Health Partners, London, UK PubMed articlesGoogle scholar articles
  • Muriel Holder Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Melita Irving Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Dragana Josifova Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Annelise Nehammer Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Mina Ryten Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Debbie Spain MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK PubMed articlesGoogle scholar articles
  • Mark Pitts Adult Autism Spectrum and ADHD Services, Behavioural and Developmental Psychiatry, Clinical Academic Group, King's Health Partners, London, UK PubMed articlesGoogle scholar articles
  • Jessica Bramham UCD School of Psychology, University College Dublin, Dublin, Ireland PubMed articlesGoogle scholar articles
  • Philip Asherson MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK PubMed articlesGoogle scholar articles
  • Sarah Curran MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK PubMed articlesGoogle scholar articles
  • Evangelos Vassos MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK PubMed articlesGoogle scholar articles
  • Gerome Breen MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK National Institute for Health Research (NIHR) Biomedical Research Centre for Mental Health at South London and Maudsley NHS Foundation Trust and Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK PubMed articlesGoogle scholar articles
  • Frances Flinter Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Caroline Mackie Ogilvie Department of Cytogenetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • David A Collier MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK Discovery Neuroscience Research, Eli Lilly and Company Ltd, Erl Wood Manor, Windlesham, Surrey, UK PubMed articlesGoogle scholar articles
  • Stephen W Scherer The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Molecular Genetics, McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Grainne M McAlonan Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK Adult Autism Spectrum and ADHD Services, Behavioural and Developmental Psychiatry, Clinical Academic Group, King's Health Partners, London, UK National Institute for Health Research (NIHR) Biomedical Research Centre for Mental Health at South London and Maudsley NHS Foundation Trust and Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK PubMed articlesGoogle scholar articles
  • Declan G Murphy Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK Adult Autism Spectrum and ADHD Services, Behavioural and Developmental Psychiatry, Clinical Academic Group, King's Health Partners, London, UK National Institute for Health Research (NIHR) Biomedical Research Centre for Mental Health at South London and Maudsley NHS Foundation Trust and Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Maria Tropeano, MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK; maria.tropeano{at}kcl.ac.uk, tropeanomaria{at}gmail.com
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Citation

Tropeano M, Howley D, Gazzellone MJ, et al
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions
Journal of Medical Genetics 2016;53:536-547.

Publication history

  • Received November 4, 2015
  • Revised February 24, 2016
  • Accepted March 10, 2016
  • First published April 12, 2016.
Online issue publication 
September 26, 2016

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