Authors

• Eleni Giannoulatou (ORCID: https://orcid.org/0000-0002-7084-6736)
• Sebastian Lunke (ORCID: https://orcid.org/0000-0002-7168-0723)
• Jaye S. Brown
• Sally L. Dunwoodie (ORCID: https://orcid.org/0000-0002-2069-7349)
• Tessa Mattiske (ORCID: https://orcid.org/0000-0002-9581-5370)
• Ivan Macciocca (ORCID: https://orcid.org/0000-0002-0908-8542)
• Belinda Chong (ORCID: https://orcid.org/0000-0002-6257-4304)
• Julie McGaughran (ORCID: https://orcid.org/0000-0002-0926-7858)
• Emma S. Singer (ORCID: https://orcid.org/0000-0003-0264-3395)
• Jasmina Cvetkovska
• Tiffany Boughtwood (ORCID: https://orcid.org/0000-0002-9634-3731)
• Emma M. Rath (ORCID: https://orcid.org/0000-0002-8430-5236)
• Sarah‐Jane Pantaleo
• Rachel Austin (ORCID: https://orcid.org/0000-0001-5311-2768)
• Yu‐Chen Chang (ORCID: https://orcid.org/0000-0001-5558-5454)
• Diane Fatkin (ORCID: https://orcid.org/0000-0002-9010-9856)
• Jodie Ingles (ORCID: https://orcid.org/0000-0002-4846-7676)
• Magdalena Soka (ORCID: https://orcid.org/0000-0002-7516-8751)
• Richard D. Bagnall (ORCID: https://orcid.org/0000-0002-2476-9864)
• Gunjan Trivedi (ORCID: https://orcid.org/0000-0003-0634-3795)
• Sarah Casauria (ORCID: https://orcid.org/0000-0002-1442-6374)
• Michael C. Quinn (ORCID: https://orcid.org/0000-0002-4501-5746)
• Chris Semsarian
• Charlotte Burns (ORCID: https://orcid.org/0000-0001-5139-2444)

Institutions

• The University of Sydney (AU)
• Garvan Institute of Medical Research (AU)
• Victor Chang Cardiac Research Institute (AU)
• Royal Brisbane and Women's Hospital (AU)
• Royal Prince Alfred Hospital (AU)
• Centenary Institute (AU)
• UNSW Sydney (AU)
• Victorian Clinical Genetics Services (AU)
• Murdoch Children's Research Institute (AU)
• Melbourne Genomics Health Alliance (AU)

Publication Details

Journal

Genetics in Medicine

Published

2025-10-29

DOI

https://doi.org/10.1016/j.gim.2025.101626

Primary Topic

Genomics and Rare Diseases

Type

article

Field-Weighted Citation Impact

0.00