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

Walker S., Bunyan DJ., Thomas HB., Kesim Y., Kershaw CJ., Holloway J., Wai H., Day M., Smith CL., Hawkes G., Wood AR., Weedon MN., Blair E., Curtis SL., Fielden C., Evans J., Whittington R., Smithson SF., Cox H., Clift P., Mcentagart M., Prapa M., Alsters S., Morris-Rosendahl D., Dean J., Morrison PJ., Dixit A., Sarkar A., Prescott K., Kesh LAR., Tharakan R., Turner C., Ellard S., Shaw-Smith C., Fasham J., Clowes V., Holden S., Somarathi S., Mercer C., Berry I., O'Keefe RT., Banka S., Baralle D., Thomas NS., Baple EL., Taylor JC., Pagnamenta AT.

DOI

10.1016/j.gim.2025.101477

Type

Conference paper

Publication Date

2025-01-01T00:00:00+00:00

Volume

27

Keywords

Aortic aneurysm, FBN1, Marfan syndrome, Pseudoexon, Splicing

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