Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants
We developed a systematic approach to uncover new diagnoses involving compound heterozygous coding/noncoding variants and conclude that this mechanism is likely to be a rare cause of DDs.
Authors
- Jenny Lord (ORCID: https://orcid.org/0000-0002-0539-9343)
- Elena Arciero (ORCID: https://orcid.org/0000-0002-5709-607X)
- Alexander J. M. Blakes (ORCID: https://orcid.org/0000-0002-0260-7020)
- Htoo A. Wai (ORCID: https://orcid.org/0000-0002-3560-6980)
- Diana Baralle (ORCID: https://orcid.org/0000-0003-3217-4833)
- Silvia Domcke (ORCID: https://orcid.org/0000-0002-4102-7774)
- Carolina Jaramillo Oquendo (ORCID: https://orcid.org/0000-0002-9875-0998)
- Karen Low (ORCID: https://orcid.org/0000-0002-4975-9363)
- Hilary C. Martin (ORCID: https://orcid.org/0000-0002-4454-9084)
- Nicola Whiffin (ORCID: https://orcid.org/0000-0003-1554-6594)
- Alexandra C Martin-Geary (ORCID: https://orcid.org/0000-0002-5818-1962)
- Anne‐Marie Childs (ORCID: https://orcid.org/0000-0001-7378-4369)
- Julia Rankin
- J Holloway
Institutions
- North Bristol NHS Trust (GB)
- Centre for Human Genetics (GB)
- University of Washington (US)
- Leeds Teaching Hospitals NHS Trust (GB)
- Manchester Academic Health Science Centre (GB)
- Royal Devon and Exeter Hospital (GB)
- Wellcome Sanger Institute (GB)
- University Hospital Southampton NHS Foundation Trust (GB)
- University of Manchester (GB)
- NIHR Southampton Biomedical Research Centre (GB)
- University of Southampton (GB)
- Peninsula College of Medicine and Dentistry (GB)
- University of Sheffield (GB)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2024-09-03
- DOI
- https://doi.org/10.1016/j.gim.2024.101249
- Citations
- 11
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 5.50
Funders
- Wellcome Trust
- Cancer Research UK
- National Institute for Health and Care Research
- Department of Health and Social Care
- University of Southampton
- Rosetrees Trust
- Novo Nordisk
- Medical Research Council