| The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ... Nucleic acids research 42 (D1), D966-D974, 2014 | 947 | 2014 |
| Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data CF Wright, TW Fitzgerald, WD Jones, S Clayton, JF McRae, ... The Lancet 385 (9975), 1305-1314, 2015 | 885 | 2015 |
| Paediatric genomics: diagnosing rare disease in children CF Wright, DR FitzPatrick, HV Firth Nature Reviews Genetics 19 (5), 253-268, 2018 | 693 | 2018 |
| Evidence for 28 genetic disorders discovered by combining healthcare and research data J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Nature 586 (7831), 757-762, 2020 | 504 | 2020 |
| Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ... Nature genetics 48 (9), 1060-1065, 2016 | 444 | 2016 |
| The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis CF Wright, H Burton Human reproduction update 15 (1), 139-151, 2009 | 444 | 2009 |
| The importance of sequence diversity in the aggregation and evolution of proteins CF Wright, SA Teichmann, J Clarke, CM Dobson Nature 438 (7069), 878-881, 2005 | 385 | 2005 |
| Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders CF Wright, JF McRae, S Clayton, G Gallone, S Aitken, TW FitzGerald, ... Genetics in Medicine 20 (10), 1216-1223, 2018 | 349 | 2018 |
| Common genetic variants contribute to risk of rare severe neurodevelopmental disorders MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon, M Kelemen, ... Nature 562 (7726), 268-271, 2018 | 338 | 2018 |
| De novo mutations in regulatory elements in neurodevelopmental disorders PJ Short, JF McRae, G Gallone, A Sifrim, H Won, DH Geschwind, ... Nature 555 (7698), 611-616, 2018 | 279 | 2018 |
| DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation E Bragin, EA Chatzimichali, CF Wright, ME Hurles, HV Firth, AP Bevan, ... Nucleic acids research 42 (D1), D993-D1000, 2014 | 267 | 2014 |
| Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration ACJW Janssens, JPA Ioannidis, S Bedrosian, P Boffetta, SM Dolan, ... Journal of clinical epidemiology 64 (8), e1-e22, 2011 | 253 | 2011 |
| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 236 | 2018 |
| The deciphering developmental disorders (DDD) study HV Firth, CF Wright Developmental medicine and child neurology 53 (8), 702, 2011 | 208 | 2011 |
| Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting CF Wright, B West, M Tuke, SE Jones, K Patel, TW Laver, RN Beaumont, ... The American Journal of Human Genetics 104 (2), 275-286, 2019 | 206 | 2019 |
| Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research A Middleton, KI Morley, E Bragin, HV Firth, ME Hurles, CF Wright, ... European Journal of Human Genetics 24 (1), 21-29, 2016 | 205 | 2016 |
| Quantifying the contribution of recessive coding variation to developmental disorders HC Martin, WD Jones, R McIntyre, G Sanchez-Andrade, M Sanderson, ... Science 362 (6419), 1161-1164, 2018 | 195 | 2018 |
| Parallel protein-unfolding pathways revealed and mapped CF Wright, K Lindorff-Larsen, LG Randles, J Clarke Nature Structural & Molecular Biology 10 (8), 658-662, 2003 | 194 | 2003 |
| Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families N Akawi, J McRae, M Ansari, M Balasubramanian, M Blyth, AF Brady, ... Nature genetics 47 (11), 1363-1369, 2015 | 178 | 2015 |
| Review of massively parallel DNA sequencing technologies S Moorthie, CJ Mattocks, CF Wright The HUGO journal 5, 1-12, 2011 | 156 | 2011 |
