Article info

Original research
The Phenotypic variability of 16p11.2 distal BP2–BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples

Authors

  • Marc Woodbury-Smith The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Lia D’Abate The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Dimitri J Stavropoulos The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada Genome Diagnostics, Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada PubMed articlesGoogle scholar articles
  • Jennifer Howe The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Irene Drmic The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada Ron Joyce Children’s Health Centre, Autism Spectrum Disorder (ASD) Program and Child and Youth Mental Health Program, McMaster Autism Research Team, McMaster University, Hamilton, Hamilton, Ontario, Canada PubMed articlesGoogle scholar articles
  • Ny Hoang Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Mehdi Zarrei The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Brett Trost The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Alana Iaboni Autism Research Centre, Holland Bloorview Kids Rehabilitation Centre, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Evdokia Anagnostou Autism Research Centre, Holland Bloorview Kids Rehabilitation Centre, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Stephen W Scherer The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Marc Woodbury-Smith, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK; marc.woodbury-smith{at}newcastle.ac.uk
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Citation

Woodbury-Smith M, D’Abate L, Stavropoulos DJ, et al
The Phenotypic variability of 16p11.2 distal BP2–BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples

Publication history

  • Received July 21, 2022
  • Accepted May 3, 2023
  • First published June 8, 2023.
Online issue publication 
November 27, 2023

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