Authors

• Anne Mackie (ORCID: https://orcid.org/0009-0002-9975-594X)
• Zosia Miedzybrodzka (ORCID: https://orcid.org/0000-0003-2890-8136)
• David Elliman (ORCID: https://orcid.org/0000-0002-8128-2825)
• Inès Kander (ORCID: https://orcid.org/0000-0002-0634-3616)
• Rachel Court (ORCID: https://orcid.org/0000-0002-4567-2586)
• Jacqueline Dinnes (ORCID: https://orcid.org/0000-0003-1343-7335)
• Chockalingam Shivashri (ORCID: https://orcid.org/0000-0003-0294-6281)
• Bethany Shinkins (ORCID: https://orcid.org/0000-0001-5350-1018)
• Graham Shortland (ORCID: https://orcid.org/0000-0002-8994-8468)
• Siân Morgan (ORCID: https://orcid.org/0000-0002-4943-653X)
• Naila Dracup (ORCID: https://orcid.org/0000-0001-9372-4654)
• Katie Scandrett (ORCID: https://orcid.org/0000-0001-6111-2805)
• Cristina Visintin (ORCID: https://orcid.org/0009-0006-4250-2924)
• Sian Taylor‐Phillips (ORCID: https://orcid.org/0000-0002-1841-4346)
• Furqan Butt (ORCID: https://orcid.org/0009-0002-8393-3502)
• Felicity Boardman (ORCID: https://orcid.org/0000-0002-3268-6276)
• Karoline Freeman (ORCID: https://orcid.org/0000-0002-9963-2918)
• Aileen Clarke (ORCID: https://orcid.org/0000-0001-8299-3146)
• C. C. Clark (ORCID: https://orcid.org/0000-0002-1077-9383)
• Yemisi Takwoingi (ORCID: https://orcid.org/0000-0002-5828-9746)
• James R. Bonham (ORCID: https://orcid.org/0009-0004-9485-6754)
• Dylan A. Taylor

Institutions

• University of Aberdeen (GB)
• Great Ormond Street Hospital (GB)
• University of Warwick (GB)
• Sheffield Children's NHS Foundation Trust (GB)
• Genomics (United Kingdom) (GB)
• NIHR Birmingham Biomedical Research Centre (GB)
• University College London (GB)
• University of Birmingham (GB)

Publication Details

Journal

BMJ Medicine

Published

2025-11-01

DOI

https://doi.org/10.1136/bmjmed-2025-001726

Citations

1

Primary Topic

Genomics and Rare Diseases

Type

article

Field-Weighted Citation Impact

1.82

Funders

• National Institute for Health and Care Research
• Department of Health and Social Care
• Evidence Synthesis Programme