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| 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 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 801 | 2017 |
| Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study J Lord, DJ McMullan, RY Eberhardt, G Rinck, SJ Hamilton, ... The Lancet 393 (10173), 747-757, 2019 | 490 | 2019 |
| The 100 000 Genomes Project: bringing whole genome sequencing to the NHS C Turnbull, RH Scott, E Thomas, L Jones, N Murugaesu, FB Pretty, ... Bmj 361, 2018 | 409 | 2018 |
| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 408 | 2017 |
| Common variations in BARD1 influence susceptibility to high-risk neuroblastoma M Capasso, M Devoto, C Hou, S Asgharzadeh, JT Glessner, EF Attiyeh, ... Nature genetics 41 (6), 718-723, 2009 | 337 | 2009 |
| Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour RH Scott, CA Stiller, L Walker, N Rahman Journal of medical genetics 43 (9), 705-715, 2006 | 332 | 2006 |
| PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels AR Martin, E Williams, RE Foulger, S Leigh, LC Daugherty, O Niblock, ... Nature genetics 51 (11), 1560-1565, 2019 | 325 | 2019 |
| Chromosome 6p22 locus associated with clinically aggressive neuroblastoma JM Maris, YP Mosse, JP Bradfield, C Hou, S Monni, RH Scott, ... New England Journal of Medicine 358 (24), 2585-2593, 2008 | 314 | 2008 |
| Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis N Trump, A McTague, H Brittain, A Papandreou, E Meyer, A Ngoh, ... Journal of medical genetics 53 (5), 310-317, 2016 | 230 | 2016 |
| Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome FP Bernier, O Caluseriu, S Ng, J Schwartzentruber, KJ Buckingham, ... The American Journal of Human Genetics 90 (5), 925-933, 2012 | 225 | 2012 |
| Whole genome sequencing reveals host factors underlying critical Covid-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature, 1-10, 2022 | 220 | 2022 |
| ACGS best practice guidelines for variant classification in rare disease 2020 S Ellard, EL Baple, A Callaway, I Berry, N Forrester, C Turnbull, M Owens, ... Assoc Clin Genomic Sci (ACGS), 1-33, 2020 | 219* | 2020 |
| Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities S Drury, H Williams, N Trump, C Boustred, GOSGene, N Lench, RH Scott, ... Prenatal diagnosis 35 (10), 1010-1017, 2015 | 211 | 2015 |
| 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 | 205 | 2018 |
| Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5 MJ McMillin, AE Beck, JX Chong, KM Shively, KJ Buckingham, ... The American Journal of Human Genetics 94 (5), 734-744, 2014 | 204 | 2014 |
| Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor RH Scott, J Douglas, L Baskcomb, N Huxter, K Barker, S Hanks, A Craft, ... Nature genetics 40 (11), 1329-1334, 2008 | 178 | 2008 |
| Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice RH Scott, L Walker, ØE Olsen, G Levitt, I Kenney, E Maher, CM Owens, ... Archives of disease in childhood 91 (12), 995-999, 2006 | 174 | 2006 |
| Phenotypic spectrum associated with CASK loss-of-function mutations U Moog, K Kutsche, F Kortüm, B Chilian, T Bierhals, N Apeshiotis, S Balg, ... Journal of medical genetics 48 (11), 741-751, 2011 | 137 | 2011 |
