| A genetic study of Wilson’s disease in the United Kingdom AJ Coffey, M Durkie, S Hague, K McLay, J Emmerson, C Lo, S Klaffke, ... Brain 136 (5), 1476-1487, 2013 | 421 | 2013 |
| A study of Wilson disease mutations in Britain D Curtis, M Durkie, P Balac, D Sheard, A Goodeve, I Peake, O Quarrell, ... Human mutation 14 (4), 304-311, 1999 | 107 | 1999 |
| Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors NS Thomas, S Ennis, AJ Sharp, M Durkie, TJ Hassold, AR Collins, ... Human molecular genetics 10 (3), 243-250, 2001 | 96 | 2001 |
| Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man NS Thomas, M Durkie, B Van Zyl, R Sanford, G Potts, S Youings, ... Human genetics 119, 444-450, 2006 | 71 | 2006 |
| Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11. 23, 15q11-q13 and 22q11 NS Thomas, M Durkie, G Potts, R Sandford, B Van Zyl, S Youings, ... European journal of human genetics 14 (7), 831-837, 2006 | 68 | 2006 |
| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes C Cubuk, A Garrett, S Choi, L King, C Loveday, B Torr, GJ Burghel, ... Genetics in Medicine 23 (11), 2096-2104, 2021 | 56 | 2021 |
| Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease M Durkie, J Chong, MK Valluru, PC Harris, ACM Ong Genetics in Medicine 23 (4), 689-697, 2021 | 51 | 2021 |
| Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations A Garrett, M Durkie, A Callaway, GJ Burghel, R Robinson, J Drummond, ... Journal of medical genetics 58 (5), 297-304, 2021 | 50 | 2021 |
| Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network A Garrett, A Callaway, M Durkie, C Cubuk, M Alikian, GJ Burghel, ... Journal of Medical Genetics 57 (12), 829-834, 2020 | 38 | 2020 |
| Genetic testing in the assessment of living related kidney donors at risk of autosomal dominant polycystic kidney disease RJ Simms, DL Travis, M Durkie, G Wilson, A Dalton, ACM Ong Transplantation 99 (5), 1023-1029, 2015 | 32 | 2015 |
| ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024 M Durkie, EJ Cassidy, I Berry, M Owens, C Turnbull, RH Scott, RW Taylor, ... Royal Devon University Healthcare NHS Foundation Trust, Exeter, EX2 5DW 5, 2023 | 29 | 2023 |
| Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK) L Loong, A Garrett, S Allen, S Choi, M Durkie, A Callaway, J Drummond, ... Genetics in Medicine 24 (9), 1867-1877, 2022 | 24 | 2022 |
| Glycogen storage disease type III in the Irish population E Crushell, EP Treacy, J Dawe, M Durkie, NJ Beauchamp Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 23 | 2010 |
| UK recommendations for SDHA germline genetic testing and surveillance in clinical practice H Hanson, M Durkie, F Lalloo, L Izatt, TP McVeigh, JA Cook, C Brewer, ... Journal of medical genetics 60 (2), 107-111, 2023 | 13 | 2023 |
| Gene-specific acmg/amp classification criteria for germline apc variants: recommendations from the clingen insight hereditary colorectal cancer/polyposis variant curation … I Spier, X Yin, M Richardson, M Pineda, A Laner, D Ritter, J Boyle, P Mur, ... Genetics in Medicine 26 (2), 100992, 2024 | 11 | 2024 |
| Fumarase deficiency in dichorionic diamniotic twins S Tregoning, W Salter, DR Thorburn, M Durkie, M Panayi, JY Wu, ... Twin Research and Human Genetics 16 (6), 1117-1120, 2013 | 11 | 2013 |
| Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce B Coad, K Joekes, A Rudnicka, A Frost, MR Openshaw, K Tatton-Brown, ... BMC medical education 23 (1), 540, 2023 | 8 | 2023 |
| Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics … L Loong, C Huntley, F McRonald, F Santaniello, J Pethick, B Torr, S Allen, ... Journal of Medical Genetics 60 (7), 669-678, 2023 | 8 | 2023 |
| Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants L Loong, C Cubuk, S Choi, S Allen, B Torr, A Garrett, C Loveday, M Durkie, ... Genetics in Medicine 24 (3), 552-563, 2022 | 8 | 2022 |
| The impact of inversions across 33,924 families with rare disease from a national genome sequencing project AT Pagnamenta, J Yu, S Walker, AJ Noble, J Lord, P Dutta, M Hashim, ... The American Journal of Human Genetics 111 (6), 1140-1164, 2024 | 7 | 2024 |
