Items where authors include "Stephens, J"
Article
Powell, N, Stephens, J, Kohl, D et al. (7 more authors) (2023) The effectiveness of interventions that support penicillin allergy assessment and de-labelling of adult and paediatric patients by non-allergy specialists: A systematic review and meta-analysis. International Journal of Infectious Diseases, 129 (April 2023). pp. 152-161. ISSN 1201-9712
Powell, N, Kohl, D, Ahmed, S et al. (6 more authors) (2021) Effectiveness of interventions that support penicillin allergy assessment and de-labelling of patients by non-allergy specialists: a systematic review protocol. JBI Evidence Synthesis. ISSN 2689-8381
Thaventhiran, JED, Lango Allen, H, Burren, OS et al. (57 more authors) (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature, 583. pp. 90-95. ISSN 0028-0836
Thaventhiran, JED, Lango Allen, H, Burren, OS et al. (56 more authors) (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature, 583. pp. 90-95. ISSN 0028-0836
Turro, E, Astle, WJ, Megy, K et al. (60 more authors) (2020) Whole-genome sequencing of patients with rare diseases in a national health system. Nature, 583. pp. 96-102. ISSN 0028-0836
Wei, W, Tuna, S, Keogh, MJ et al. (426 more authors) (2019) Germline selection shapes human mitochondrial DNA diversity. Science, 364 (6442). 749-+. ISSN 0036-8075
Tuijnenburg, P, Lango Allen, H, Burns, SO et al. (28 more authors) (2018) Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. Journal of Allergy and Clinical Immunology, 142 (4). pp. 1285-1296. ISSN 0091-6749
Whitworth, J, Smith, PS, Martin, J-E et al. (41 more authors) (2018) Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. American Journal of Human Genetics, 103 (1). pp. 3-18. ISSN 0002-9297
Whitworth, J, Smith, PS, Martin, J-E et al. (330 more authors) (2018) Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes. The American Journal of Human Genetics, 103 (1). pp. 3-18. ISSN 0002-9297
Carss, KJ, Arno, G, Erwood, M et al. (35 more authors) (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics, 100 (1). pp. 75-90. ISSN 0002-9297
Craddock, N, Hurles, ME, Cardin, N et al. (215 more authors) (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464 (7289). pp. 713-720. ISSN 0028-0836