Items where authors include "Baralle, D."

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

Chen, Y. orcid.org/0000-0001-5593-6920, Dawes, R. orcid.org/0000-0003-2135-0117, Kim, H.C. orcid.org/0000-0001-5877-5456 et al. (116 more authors) (2024) De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature, 632. pp. 832-840. ISSN 0028-0836

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Yu, J., Walker, S. et al. (65 more authors) (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6). pp. 1140-1164. ISSN 0002-9297

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

Ellingford, J.M., Ahn, J.W., Bagnall, R.D. et al. (24 more authors) (2022) Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine, 14 (1). 73. ISSN 1756-994X

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

Penrice-Randal, R., Dong, X., Shapanis, A.G. et al. (17 more authors) (2022) Blood gene expression predicts intensive care unit admission in hospitalised patients with COVID-19. Frontiers in Immunology, 13. 988685. ISSN 1664-3224

Strauch, Y. orcid.org/0000-0003-0820-8319, Lord, J. orcid.org/0000-0002-0539-9343, Niranjan, M. orcid.org/0000-0001-7021-140X et al. (1 more author) (2022) CI-SpliceAI—Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites. PLOS ONE, 17 (6). e0269159. ISSN 1932-6203

Legebeke, J., Lord, J. orcid.org/0000-0002-0539-9343, Penrice-Randal, R. et al. (17 more authors) (2022) Evaluating the immune response in treatment-naive hospitalised patients with influenza and COVID-19. Frontiers in Immunology, 13. 853265. ISSN 1664-3224

Richardson, R., Baralle, D., Bennett, C. et al. (19 more authors) (2022) Further delineation of phenotypic spectrum of SCN2A-related disorder. American Journal of Medical Genetics Part A, 188 (3). pp. 867-877. ISSN 1552-4825

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

McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836

Fitzgerald, T.W., Gerety, S.S., Jones, W.D. et al. (263 more authors) (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519. pp. 223-228. ISSN 0028-0836