@misc{indiciae84251fbb3579,
  title = {Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.},
  author = {Susan Walker and David J Bunyan and Huw B Thomas and Yesim Kesim and Christopher J Kershaw and John Holloway and Htoo Wai and Michael Day and Cassandra L Smith and Gareth Hawkes and Andrew R Wood and Michael N Weedon and Ed Blair and Stephanie L Curtis and Catherine Fielden and Julie Evans and Rebecca Whittington and Sarah F Smithson and Helen Cox and Paul Clift and Meriel McEntagart and Matina Prapa and Suzanne Alsters and Deborah Morris-Rosendahl and John Dean and Patrick J Morrison and Abhijit Dixit and Ajoy Sarkar and Katrina Prescott and Leila Amel Riazat Kesh and Riya Tharakan and Claire Turner and Sian Ellard and Charles Shaw-Smith and James Fasham and Virginia Clowes and Simon Holden and Suresh Somarathi and Catherine Mercer and Ian Berry and Raymond T O'Keefe and Siddharth Banka and Diana Baralle and N Simon Thomas and Emma L Baple and Jenny C Taylor and Alistair T Pagnamenta},
  year = {2025},
  doi = {10.1016/j.gim.2025.101477},
  url = {https://pubmed.ncbi.nlm.nih.gov/40476350/},
  note = {Source identifier: 40476350}
}