Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

  1. Susan Walker
  2. David J. Bunyan
  3. Huw B. Thomas
  4. Yesim Kesim
  5. Christopher J. Kershaw
  6. John Holloway
  7. Htoo Wai
  8. Michael Day
  9. Cassandra L. Smith
  10. Gareth Hawkes
  11. Andrew R. Wood
  12. Michael N. Weedon
  13. Ed Blair
  14. Stephanie L. Curtis
  15. Catherine Fielden
  16. Julie Evans
  17. Rebecca Whittington
  18. Sarah F. Smithson
  19. Helen Cox
  20. Paul Clift
  21. Meriel McEntagart
  22. Matina Prapa
  23. Suzanne Alsters
  24. Deborah Morris-Rosendahl
  25. John Dean
  26. Patrick J. Morrison
  27. Abhijit Dixit
  28. Ajoy Sarkar
  29. Katrina Prescott
  30. Leila Amel Riazat Kesh
  31. Riya Tharakan
  32. Claire Turner
  33. Sian Ellard
  34. Charles Shaw-Smith
  35. James Fasham
  36. Virginia Clowes
  37. Simon Holden
  38. Suresh Somarathi
  39. Catherine Mercer
  40. Ian Berry
  41. Raymond T. O’Keefe
  42. Siddharth Banka
  43. Diana Baralle
  44. N. Simon Thomas
  45. Emma L. Baple
  46. Jenny C. Taylor
  47. Alistair T. Pagnamenta
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  1. Version published to 10.1016/j.gim.2025.101477
  2. Version published to 10.1101/2025.02.18.25321172 on medRxiv