| The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... Nature 581 (7809), 434-443, 2020 | 7082 | 2020 |
| Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... biorxiv, 531210, 2019 | 1162 | 2019 |
| 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 | 368 | 2021 |
| Treatment of multisystem inflammatory syndrome in children AJ McArdle, O Vito, H Patel, EG Seaby, P Shah, C Wilson, C Broderick, ... New England Journal of Medicine 385 (1), 11-22, 2021 | 350 | 2021 |
| Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis C Gast, RJ Pengelly, M Lyon, DJ Bunyan, EG Seaby, N Graham, ... Nephrology Dialysis Transplantation 31 (6), 961-970, 2016 | 280 | 2016 |
| Transcript expression-aware annotation improves rare variant interpretation BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ... Nature 581 (7809), 452-458, 2020 | 178 | 2020 |
| Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance HA Wai, J Lord, M Lyon, A Gunning, H Kelly, P Cibin, EG Seaby, ... Genetics in Medicine 22 (6), 1005-1014, 2020 | 132 | 2020 |
| Exome sequencing explained: a practical guide to its clinical application EG Seaby, RJ Pengelly, S Ennis Briefings in functional genomics 15 (5), 374-384, 2016 | 97 | 2016 |
| Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly RJ Pengelly, S Greville-Heygate, S Schmidt, EG Seaby, MR Jabalameli, ... Journal of medical genetics 53 (11), 735-742, 2016 | 92 | 2016 |
| The benefits of being a near‐peer teacher S Hall, CH Harrison, J Stephens, MG Andrade, EG Seaby, W Parton, ... The Clinical Teacher 15 (5), 403-407, 2018 | 67 | 2018 |
| Delineation of a human Mendelian disorder of the DNA demethylation machinery: TET3 deficiency DB Beck, A Petracovici, C He, HW Moore, RJ Louie, M Ansar, S Douzgou, ... The American Journal of Human Genetics 106 (2), 234-245, 2020 | 66 | 2020 |
| Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease C Gast, A Marinaki, M Arenas-Hernandez, S Campbell, EG Seaby, ... BMC nephrology 19, 1-11, 2018 | 51 | 2018 |
| Thrombotic microangiopathy following haematopoietic stem cell transplant EG Seaby, RD Gilbert Pediatric Nephrology 33, 1489-1500, 2018 | 42 | 2018 |
| Can medical students accurately predict their learning? A study comparing perceived and actual performance in neuroanatomy SR Hall, JR Stephens, EG Seaby, MG Andrade, AF Lowry, WJC Parton, ... Anatomical Sciences Education 9 (5), 488-495, 2016 | 40 | 2016 |
| Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans S Gudmundsson, KJ Karczewski, LC Francioli, G Tiao, BB Cummings, ... Nature 597 (7874), E3-E4, 2021 | 37 | 2021 |
| Strategies to uplift novel Mendelian gene discovery for improved clinical outcomes EG Seaby, HL Rehm, A O’Donnell-Luria Frontiers in Genetics 12, 674295, 2021 | 30 | 2021 |
| Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes RJ Pengelly, L Arias, J Martínez, R Upstill-Goddard, EG Seaby, J Gibson, ... Scientific Reports 6 (1), 30457, 2016 | 29 | 2016 |
| The efficacy of frontline near‐peer teaching in a modern medical curriculum CH Harrison, A Elmansouri, W Parton, MA Myers, S Hall, JR Stephens, ... Anatomical Sciences Education 12 (3), 236-244, 2019 | 26 | 2019 |
| Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies EG Seaby, S Ennis Briefings in functional genomics 19 (4), 243-258, 2020 | 22 | 2020 |
| Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study S Channon-Wells, O Vito, AJ McArdle, EG Seaby, H Patel, P Shah, ... The Lancet Rheumatology 5 (4), e184-e199, 2023 | 21 | 2023 |
Reuben J. PengellyUniversity of SouthamptonVerifierad e-postadress på soton.ac.uk
