Items where authors include "Wai, H.A."

Article

Lord, J. orcid.org/0000-0002-0539-9343, Oquendo, C.J., Wai, H.A. et al. (11 more authors) (2024) Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants. Genetics in Medicine, 26 (12). 101249. ISSN 1098-3600

Jaramillo Oquendo, C., Wai, H.A., Rich, W.I. et al. (6 more authors) (2024) Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach. Genome Medicine, 16. 110. ISSN 1756-994X

Lord, J. orcid.org/0000-0002-0539-9343, Oquendo, C.J., Wai, H.A. et al. (24 more authors) (2024) Predicting the impact of rare variants on RNA splicing in CAGI6. Human Genetics. ISSN 0340-6717

Blakes, A.J.M., Wai, H.A., Davies, I. et al. (16 more authors) (2022) A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Genome Medicine, 14 (1). 79. ISSN 1756-994X

Wai, H.A., Lord, J., Lyon, M. et al. (11 more authors) (2020) Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance. Genetics in Medicine, 22 (6). pp. 1005-1014. ISSN 1098-3600