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Diagnostics
Original research
Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant

Authors

  • Christopher Mark Watson North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK PubMed articlesGoogle scholar articles
  • Lucy Jackson North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK PubMed articlesGoogle scholar articles
  • Laura A Crinnion North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK PubMed articlesGoogle scholar articles
  • David T Bonthron Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK PubMed articlesGoogle scholar articles
  • Eamonn Sheridan Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Christopher Mark Watson, Leeds Teaching Hospitals NHS Trust, Leeds, UK; c.m.watson{at}leeds.ac.uk
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Citation

Watson CM, Jackson L, Crinnion LA, et al
Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant
Journal of Medical Genetics 2022;59:1082-1086.

Publication history

  • Received January 19, 2022
  • Accepted March 24, 2022
  • First published April 12, 2022.
Online issue publication 
October 21, 2022

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© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.