Items where authors include "Genomics England Research Consortium"

Article

Booth, M.E., Wood, H.M. orcid.org/0000-0003-3009-5904, Travis, M.A. et al. (3 more authors) (2025) The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas. Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association. ISSN 1436-3291

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

Birch, RJ orcid.org/0000-0003-1579-1397, Peckham, D orcid.org/0000-0001-7723-1868, Wood, HM orcid.org/0000-0003-3009-5904 et al. (7 more authors) (2023) The risk of colorectal cancer in individuals with mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: An English population-based study. Journal of Cystic Fibrosis, 22 (3). pp. 499-504. ISSN 1569-1993

Yahya, S, Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2023) Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene. Ophthalmology, 130 (1). pp. 68-76. ISSN 0161-6420

Best, S, Yu, J, Lord, J et al. (17 more authors) (2022) Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59 (12). pp. 1151-1164. ISSN 0022-2593

Best, S, Lord, J, Roche, M et al. (13 more authors) (2022) Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project. Journal of Medical Genetics, 59 (8). pp. 737-747. ISSN 0022-2593

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

Poulter, JA, Gravett, MSC orcid.org/0000-0001-8351-7176, Taylor, RL et al. (26 more authors) (2021) New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation, 42 (2). humu.24140. pp. 164-176. ISSN 1059-7794

Vig, A, Poulter, JA orcid.org/0000-0003-2048-5693, Ottaviani, D et al. (28 more authors) (2020) DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine, 22 (12). pp. 2041-2051. ISSN 1098-3600

Cuvertino, S, Hartill, V, Colyer, A et al. (32 more authors) (2020) A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genetics in Medicine, 22 (5). pp. 867-877. ISSN 1098-3600

Pleguezuelos-Manzano, C, Puschhof, J, Rosendahl Huber, A et al. (25 more authors) (2020) Mutational signature in colorectal cancer caused by genotoxic pks⁺ E. coli. Nature, 580 (7802). pp. 269-273. ISSN 0028-0836