Items where authors include "Keavney, B."

Article

Hartill, V. orcid.org/0000-0003-2537-8205, Kabir, M., Best, S. et al. (16 more authors) (2025) Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project. European Journal of Human Genetics, 33. pp. 793-802. ISSN 1018-4813

Hartill, V., Kabir, M., Best, S. et al. (16 more authors) (2024) Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project. European Journal of Human Genetics. ISSN 1018-4813

Bonazzola, R. orcid.org/0000-0001-8811-2581, Ferrante, E., Ravikumar, N. orcid.org/0000-0003-0134-107X et al. (5 more authors) (2024) Unsupervised ensemble-based phenotyping enhances discoverability of genes related to left-ventricular morphology. Nature Machine Intelligence, 6. pp. 291-306. ISSN 2522-5839

Grozeva, D., Carss, K., Spasic-Boskovic, O. et al. (23 more authors) (2015) Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. Human Mutation, 36 (12). pp. 1197-1204. ISSN 1059-7794

Preprint

Jiang, F., Boylan, M., Maxwell, D.W. et al. (24 more authors) (2025) The RNA splicing factor PRPF8 is required for left-right organiser cilia function and determination of cardiac left-right asymmetry via regulation of Arl13b splicing. [Preprint]