| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 363 | 2021 |
| Molecular findings from 537 individuals with inherited retinal disease JM Ellingford, S Barton, S Bhaskar, J O'Sullivan, SG Williams, JA Lamb, ... Journal of medical genetics 53 (11), 761-767, 2016 | 159 | 2016 |
| Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease JM Ellingford, S Barton, S Bhaskar, SG Williams, PI Sergouniotis, ... Ophthalmology 123 (5), 1143-1150, 2016 | 140 | 2016 |
| Validation of copy number variation analysis for next-generation sequencing diagnostics JM Ellingford, C Campbell, S Barton, S Bhaskar, S Gupta, RL Taylor, ... European Journal of Human Genetics 25 (6), 719-724, 2017 | 87 | 2017 |
| A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations R Jayadev, MRPT Morais, JM Ellingford, S Srinivasan, RW Naylor, ... Science Advances 8 (20), eabn2265, 2022 | 83 | 2022 |
| A dominantly inherited 5′ UTR variant causing methylation-associated silencing of BRCA1 as a cause of breast and ovarian cancer DGR Evans, EM van Veen, HJ Byers, AJ Wallace, JM Ellingford, ... The American Journal of Human Genetics 103 (2), 213-220, 2018 | 82 | 2018 |
| Recommendations for clinical interpretation of variants found in non-coding regions of the genome JM Ellingford, JW Ahn, RD Bagnall, D Baralle, S Barton, C Campbell, ... Genome medicine 14 (1), 73, 2022 | 77 | 2022 |
| Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases JM Ellingford, B Horn, C Campbell, G Arno, S Barton, C Tate, S Bhaskar, ... Journal of medical genetics 55 (2), 114-121, 2018 | 65 | 2018 |
| Panel-based clinical genetic testing in 85 children with inherited retinal disease RL Taylor, NRA Parry, SJ Barton, C Campbell, CM Delaney, JM Ellingford, ... Ophthalmology 124 (7), 985-991, 2017 | 57 | 2017 |
| Clinical utility of genetic testing in 201 preschool children with inherited eye disorders E Lenassi, J Clayton-Smith, S Douzgou, SC Ramsden, S Ingram, G Hall, ... Genetics in Medicine 22 (4), 745-751, 2020 | 49 | 2020 |
| Machine learning approaches for the prioritization of genomic variants impacting pre-mRNA splicing CF Rowlands, D Baralle, JM Ellingford Cells 8 (12), 1513, 2019 | 47 | 2019 |
| Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission JM Ellingford, R George, JH McDermott, S Ahmad, JJ Edgerley, ... Elife 10, e65453, 2021 | 42 | 2021 |
| Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts A Belot, GI Rice, SO Omarjee, Q Rouchon, EMD Smith, M Moreews, ... The Lancet Rheumatology 2 (2), e99-e109, 2020 | 41 | 2020 |
| Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility N Bedoni, L Haer-Wigman, V Vaclavik, VH Tran, P Farinelli, S Balzano, ... Human molecular genetics 25 (20), 4546-4555, 2016 | 40 | 2016 |
| DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration A Vig, JA Poulter, D Ottaviani, E Tavares, K Toropova, AM Tracewska, ... Genetics in Medicine 22 (12), 2041-2051, 2020 | 37 | 2020 |
| Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome JM Ellingford, PI Sergouniotis, R Lennon, S Bhaskar, SG Williams, ... The Lancet 385 (9980), 1916, 2015 | 37 | 2015 |
| Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders C Rowlands, HB Thomas, J Lord, HA Wai, G Arno, G Beaman, ... Scientific Reports 11 (1), 20607, 2021 | 36 | 2021 |
| Clinical and genetic variability in children with partial albinism P Campbell, JM Ellingford, NRA Parry, T Fletcher, SC Ramsden, T Gale, ... Scientific reports 9 (1), 16576, 2019 | 33 | 2019 |
| Loss-of-function variants in myocardin cause congenital megabladder in humans and mice AC Houweling, GM Beaman, AV Postma, TB Gainous, KD Lichtenbelt, ... The Journal of clinical investigation 129 (12), 5374-5380, 2019 | 31 | 2019 |
| Exploring the genetic basis of 3MC syndrome: Findings in 12 further families J Urquhart, R Roberts, D de Silva, S Shalev, E Chervinsky, S Nampoothiri, ... American Journal of Medical Genetics Part A 170 (5), 1216-1224, 2016 | 28 | 2016 |
