Items where authors include "Durkie, M."

Article

McVeigh, T.P., Monahan, K.J., Christopher, J. et al. (86 more authors) (2024) Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus. Journal of Medical Genetics, 61 (7). pp. 707-715. ISSN 0022-2593

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

Chen, E.W.C., Chong, J., Valluru, M.K. orcid.org/0000-0001-9156-866X et al. (4 more authors) (2024) Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD. Nephrology Dialysis Transplantation, 39 (6). pp. 956-966. ISSN 0931-0509

Allen, S. orcid.org/0000-0003-4928-2240, Loong, L., Garrett, A. orcid.org/0000-0001-8942-283X et al. (34 more authors) (2023) Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. Journal of Medical Genetics. jmg-2023. ISSN 0022-2593

Durkie, M., Watson, C.M. orcid.org/0000-0003-2371-1844, Winship, P. et al. (10 more authors) (2023) The common PKD1 p.(Ile3167Phe) variant is hypomorphic and associated with very early onset, biallelic polycystic kidney disease. Human Mutation, 2023. 5597005. ISSN 1059-7794

Durkie, M., Chong, J., Valluru, M.K. et al. (2 more authors) (2021) Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease. Genetics in Medicine, 23 (4). pp. 689-697. ISSN 1098-3600