Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Dong S, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Candler T, Firth H, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease. Genome Med. 2025 Apr 14; 17(1):40.