Items where authors include "Lord, J."

Article

Aughey, G.N., Cali, E., Maroofian, R. orcid.org/0000-0001-6763-1542 et al. (53 more authors) (2024) Clinical and genetic characterization of a progressive RBL2 associated neurodevelopmental disorder. Brain. ISSN 0006-8950

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

Hartill, V. orcid.org/0000-0003-2537-8205, 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

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

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

Taquet, M., Skorniewska, Z., De Deyn, T. et al. (1085 more authors) (2024) Cognitive and psychiatric symptom trajectories 2–3 years after hospital admission for COVID-19: a longitudinal, prospective cohort study in the UK. The Lancet Psychiatry, 11 (9). P696-708. ISSN 2215-0366

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

Liew, F., Efstathiou, C. orcid.org/0000-0001-6125-8126, Fontanella, S. et al. (1457 more authors) (2024) Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease. Nature Immunology, 25 (4). pp. 607-621. ISSN 1529-2908

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

Best, S., Yu, J., Lord, J. orcid.org/0000-0002-0539-9343 et al. (16 more authors) (2022) Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59. pp. 1151-1164. ISSN 0022-2593

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

Nazlamova, L., Villa Vasquez, S.S., Lord, J. orcid.org/0000-0002-0539-9343 et al. (4 more authors) (2022) Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations. Frontiers in Genetics, 13. 1009430. ISSN 1664-8021

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

Fennell, D.A., Ewings, S., Ottensmeier, C. et al. (36 more authors) (2021) Nivolumab versus placebo in patients with relapsed malignant mesothelioma (CONFIRM): a multicentre, double-blind, randomised, phase 3 trial. The Lancet Oncology, 22 (11). pp. 1530-1540. ISSN 1470-2045

Kaplanis, J., Samocha, K.E., Wiel, L. et al. (30 more authors) (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586 (7831). pp. 757-762. ISSN 0028-0836

Lord, J., Britton, H., Spain, S.G. orcid.org/0000-0001-7241-5713 et al. (1 more author) (2020) Advancements in the development on new liquid embolic agents for use in therapeutic embolisation. Journal of Materials Chemistry B, 8 (36). pp. 8207-8218. ISSN 2050-750X

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

Fennell, D.A., Kirkpatrick, E., Cozens, K. et al. (13 more authors) (2018) CONFIRM: a double-blind, placebo controlled phase III clinical trial investigating the effect of nivolumab in patients with relapsed mesothelioma: study protocol for a randomised controlled trial. TRIALS, 19. 233. ISSN 1745-6215

Picot, J., Rose, M., Cooper, K. et al. (6 more authors) (2017) Virtual chromoendoscopy for the real-time assessment of colorectal polyps in vivo: a systematic review and economic evaluation. Health Technology Assessment, 21 (79). ISSN 1366-5278

Akawi, N., McRae, J., Ansari, M. et al. (40 more authors) (2015) Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 47 (11). pp. 1363-1369. ISSN 1061-4036

Proceedings Paper

Hanna, G., Griffiths, G., Kirkpatrick, E.V. et al. (11 more authors) (2018) CONFIRM: a phase III randomised trial to evaluate the efficacy of nivolumab versus placebo in relapsed mesothelioma. In: Lung Cancer. 16th Annual British Thoracic Oncology Group Conference 2018, 24-26 Jan 2018, Dublin. Elsevier , S84-S84.