Items where authors include "Douglas, A.G.L."

Article

Howard, J. orcid.org/0000-0001-7182-593X, Chaouch, A. orcid.org/0009-0005-4340-6400, Douglas, A.G.L. et al. (3 more authors) (2025) Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members. European Journal of Human Genetics, 33 (1). pp. 7-13. ISSN 1018-4813

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

Nolden, K.A., Egner, J.M., Collier, J.J. et al. (21 more authors) (2022) Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms. Life Science Alliance, 5 (12). ARTN e202101284.

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