Items where authors include "Taylor, J.C."

Article

Cipriani, V. orcid.org/0000-0002-0839-9955, Vestito, L. orcid.org/0000-0003-0008-936X, Magavern, E.F. orcid.org/0000-0003-0699-6411 et al. (58 more authors) (2025) Rare disease gene association discovery in the 100,000 Genomes Project. Nature. ISSN 0028-0836

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Hashim, M. orcid.org/0000-0003-3395-8453, Kennedy, J. et al. (4 more authors) (2025) A cryptic CBFB deletion–inversion expands the mutational spectrum of variants associated with cleidocranial dysplasia. Clinical Genetics. ISSN 0009-9163

Birch, R.J. orcid.org/0000-0003-1579-1397, Burr, N.E., Taylor, J.C. orcid.org/0000-0002-2518-5799 et al. (5 more authors) (2025) Inequalities in colorectal cancer diagnosis by ethnic group: a population-level study in the English National Health Service. BMJ Open Gastroenterology, 12 (1). e001629. ISSN 2054-4774

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

Taylor, J.C. orcid.org/0000-0002-2518-5799, Burke, D., Iversen, L.H. et al. (6 more authors) (2024) Minimally Invasive Surgery for Colorectal Cancer: Benchmarking Uptake for a Regional Improvement Programme. Clinical Colorectal Cancer, 23 (4). pp. 382-391. ISSN 1533-0028

Griffen, E.J., Boulet, P., Albrecht, R. et al. (365 more authors) (2024) Enabling equitable and affordable access to novel therapeutics for pandemic preparedness and response via creative intellectual property agreements. Wellcome Open Research, 9. 374. ISSN 2398-502X

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

Chatzigeorgiou, C. orcid.org/0000-0003-1471-025X, Barrett, J.H., Martin, J. et al. (53 more authors) (2023) Estimating overdiagnosis in giant cell arteritis diagnostic pathways using genetic data: genetic association study. Rheumatology. kead643. ISSN 1462-0324

Moore, A.R. orcid.org/0009-0007-9595-7786, Yu, J., Pei, Y. et al. (15 more authors) (2023) Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project. Journal of Medical Genetics, 60 (12). pp. 1235-1244. ISSN 0022-2593

Boby, M.L., Fearon, D. orcid.org/0000-0003-3529-7863, Ferla, M. et al. (209 more authors) (2023) Open science discovery of potent noncovalent SARS-CoV-2 main protease inhibitors. Science, 382 (6671). eabo7201. ISSN 0036-8075

Chatzigeorgiou, C. orcid.org/0000-0003-1471-025X, Taylor, J.C. orcid.org/0000-0002-2518-5799, Elliott, F. orcid.org/0000-0002-3239-6914 et al. (4 more authors) (2023) Common comorbidities in polymyalgia rheumatica and giant cell arteritis: cross-sectional study in UK Biobank. Rheumatology Advances in Practice, 7 (3). rkad095. ISSN 2514-1775

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Belles, R.S., Salbert, B.A. et al. (21 more authors) (2023) The prevalence and phenotypic range associated with biallelic PKDCC variants. Clinical Genetics, 104 (1). pp. 121-126. ISSN 0009-9163

Pagnamenta, A.T., Yu, J., Evans, J. et al. (7 more authors) (2023) Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. Journal of Medical Genetics, 60 (5). pp. 505-510. ISSN 0022-2593

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

Sharkey, M.J. orcid.org/0000-0001-9851-0014, Taylor, J.C., Alabed, S. orcid.org/0000-0002-9960-7587 et al. (13 more authors) (2022) Fully automatic cardiac four chamber and great vessel segmentation on CT pulmonary angiography using deep learning. Frontiers in Cardiovascular Medicine, 9. 983859. ISSN 2297-055X

Wright, C.F., Quaife, N.M., Ramos-Hernández, L. et al. (31 more authors) (2021) Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics, 108 (6). pp. 1083-1094. ISSN 0002-9297

Taylor, J.C. orcid.org/0000-0003-3403-1668, Romanowski, C., Lorenz, E. et al. (3 more authors) (2018) Computer-aided diagnosis for (123I)FP-CIT imaging: impact on clinical reporting. EJNMMI Research, 8 (1). 36. ISSN 2191-219X

Taylor, J.C. orcid.org/0000-0003-3403-1668, Vennart, N., Negus, I. et al. (4 more authors) (2018) The subresolution DaTSCAN phantom: a cost-effective, flexible alternative to traditional phantom technology. Nuclear Medicine Communications, 39 (3). pp. 268-275. ISSN 0143-3636

Taylor, J.C. orcid.org/0000-0003-3403-1668 and fenner, J. (2017) Comparison of machine learning and semi-quantification algorithms for (I123)FP-CIT classification: the beginning of the end for semi-quantification? European Journal of Nuclear Medicine and Molecular Imaging Physics, 4 (29). ISSN 1619-7070

Mitchell, C., Ploem, C., Chico, V. et al. (10 more authors) (2017) Exploring the potential duty of care in clinical genomics under UK law. Medical Law International, 17 (3). pp. 158-182. ISSN 0968-5332