Items where authors include "Megy, K"

Article

Swietlik, EM, Greene, D, Zhu, N et al. (56 more authors) (2021) Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension. Circulation: Genomic and Precision Medicine, 14 (1). pp. 57-70. ISSN 2574-8300

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

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