| 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 | 912 | 2014 |
| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 880 | 2017 |
| 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 | 816 | 2015 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 743 | 2015 |
| Paediatric genomics: diagnosing rare disease in children CF Wright, DR FitzPatrick, HV Firth Nature Reviews Genetics 19 (5), 253-268, 2018 | 580 | 2018 |
| 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 | 426 | 2009 |
| 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 | 403 | 2016 |
| 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 | 380 | 2020 |
| 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 | 376 | 2005 |
| 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 | 365 | 2021 |
| 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 | 315 | 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 | 298 | 2018 |
| Complications in pediatric regional anesthesia: an analysis of more than 100,000 blocks from the pediatric regional anesthesia network BJ Walker, JB Long, M Sathyamoorthy, J Birstler, C Wolf, AT Bosenberg, ... Anesthesiology 129 (4), 721-732, 2018 | 267 | 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 | 259 | 2018 |
| 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 | 249 | 2011 |
| 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 | 243 | 2014 |
| 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 | 198 | 2016 |
| The friendships and recent life events of anxious and depressed school-age children I Goodyer, C Wright, P Altham The British Journal of Psychiatry 156 (5), 689-698, 1990 | 198 | 1990 |
| 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 | 192 | 2003 |
| The deciphering developmental disorders (DDD) study HV Firth, CF Wright Developmental medicine and child neurology 53 (8), 702, 2011 | 188 | 2011 |
