| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8984 | 2010 |
| Human Gene Mutation Database (HGMD®): 2003 update PD Stenson, EV Ball, M Mort, AD Phillips, JA Shiel, NST Thomas, ... Human mutation 21 (6), 577-581, 2003 | 2203 | 2003 |
| The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies PD Stenson, M Mort, EV Ball, K Evans, M Hayden, S Heywood, M Hussain, ... Human genetics 136, 665-677, 2017 | 1549 | 2017 |
| The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine PD Stenson, M Mort, EV Ball, K Shaw, AD Phillips, DN Cooper Human genetics 133, 1-9, 2014 | 1542 | 2014 |
| The human gene mutation database: 2008 update PD Stenson, M Mort, EV Ball, K Howells, AD Phillips, NST Thomas, ... Genome medicine 1, 1-6, 2009 | 1339* | 2009 |
| The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting PD Stenson, M Mort, EV Ball, M Chapman, K Evans, L Azevedo, ... Human genetics 139, 1197-1207, 2020 | 1009 | 2020 |
| Automated inference of molecular mechanisms of disease from amino acid substitutions B Li, VG Krishnan, ME Mort, F Xin, KK Kamati, DN Cooper, SD Mooney, ... Bioinformatics 25 (21), 2744-2750, 2009 | 947 | 2009 |
| Insights into hominid evolution from the gorilla genome sequence A Scally, JY Dutheil, LDW Hillier, GE Jordan, I Goodhead, J Herrero, ... Nature 483 (7388), 169-175, 2012 | 843 | 2012 |
| An integrative approach to predicting the functional effects of non-coding and coding sequence variation HA Shihab, MF Rogers, J Gough, M Mort, DN Cooper, INM Day, TR Gaunt, ... Bioinformatics 31 (10), 1536-1543, 2015 | 746 | 2015 |
| Demographic history and rare allele sharing among human populations S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ... Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011 | 739 | 2011 |
| Gene expression across mammalian organ development M Cardoso-Moreira, J Halbert, D Valloton, B Velten, C Chen, Y Shao, ... Nature 571 (7766), 505-509, 2019 | 656 | 2019 |
| Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 V Pejaver, J Urresti, J Lugo-Martinez, KA Pagel, GN Lin, HJ Nam, M Mort, ... Nature communications 11 (1), 5918, 2020 | 650 | 2020 |
| A meta‐analysis of nonsense mutations causing human genetic disease M Mort, D Ivanov, DN Cooper, NA Chuzhanova Human mutation 29 (8), 1037-1047, 2008 | 499 | 2008 |
| Single base‐pair substitutions in exon–intron junctions of human genes: nature, distribution, and consequences for mRNA splicing M Krawczak, NST Thomas, B Hundrieser, M Mort, M Wittig, J Hampe, ... Human mutation 28 (2), 150-158, 2007 | 441 | 2007 |
| FATHMM-XF: accurate prediction of pathogenic point mutations via extended features MF Rogers, HA Shihab, M Mort, DN Cooper, TR Gaunt, C Campbell Bioinformatics 34 (3), 511-513, 2018 | 412 | 2018 |
| Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts JR Sanford, X Wang, M Mort, N VanDuyn, DN Cooper, SD Mooney, ... Genome research 19 (3), 381-394, 2009 | 382 | 2009 |
| Deleterious-and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing Y Xue, Y Chen, Q Ayub, N Huang, EV Ball, M Mort, AD Phillips, K Shaw, ... The American Journal of Human Genetics 91 (6), 1022-1032, 2012 | 321 | 2012 |
| Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics DN Cooper, JM Chen, EV Ball, K Howells, M Mort, AD Phillips, ... Human mutation 31 (6), 631-655, 2010 | 240 | 2010 |
| Ranking non-synonymous single nucleotide polymorphisms based on disease concepts HA Shihab, J Gough, M Mort, DN Cooper, INM Day, TR Gaunt Human genomics 8, 1-6, 2014 | 236 | 2014 |
| The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics PD Stenson, EV Ball, K Howells, AD Phillips, M Mort, DN Cooper Human genomics 4, 1-4, 2009 | 222 | 2009 |
