| Whole-genome sequencing of patients with rare diseases in a national health system E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ... Nature 583 (7814), 96-102, 2020 | 393 | 2020 |
| 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 | 379 | 2020 |
| 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 |
| 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 | 175* | 2018 |
| TNFα signals through specialized factories where responsive coding and miRNA genes are transcribed A Papantonis, T Kohro, S Baboo, JD Larkin, B Deng, P Short, S Tsutsumi, ... The EMBO journal 31 (23), 4404-4414, 2012 | 143 | 2012 |
| Pathogenicity and selective constraint on variation near splice sites J Lord, G Gallone, PJ Short, JF McRae, H Ironfield, EH Wynn, SS Gerety, ... Genome research 29 (2), 159-170, 2019 | 77 | 2019 |
| Contribution of retrotransposition to developmental disorders EJ Gardner, E Prigmore, G Gallone, P Danecek, KE Samocha, ... Nature Communications 10 (1), 4630, 2019 | 62 | 2019 |
| Towards programming immune tolerance through geometric manipulation of phosphatidylserine RA Roberts, TK Eitas, JD Byrne, BM Johnson, PJ Short, KP McKinnon, ... Biomaterials 72, 1-10, 2015 | 54 | 2015 |
| Genetic and chemotherapeutic influences on germline hypermutation J Kaplanis, B Ide, R Sanghvi, M Neville, P Danecek, T Coorens, ... Nature 605 (7910), 503-508, 2022 | 45 | 2022 |
| Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... biorxiv, 797787, 2019 | 45 | 2019 |
| Deciphering Developmental Disorders Study J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Evidence for 28, 757-762, 2020 | 25 | 2020 |
| Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders DT Gerrard, AA Berry, RE Jennings, MJ Birket, P Zarrineh, MG Garstang, ... Nature Communications 11 (1), 3920, 2020 | 16 | 2020 |
| Genome-wide association study of long COVID V Lammi, T Nakanishi, SE Jones, SJ Andrews, J Karjalainen, B Cortés, ... medRxiv, 2023.06. 29.23292056, 2023 | 11 | 2023 |
| Genetic and chemotherapeutic causes of germline hypermutation J Kaplanis, B Ide, R Sanghvi, M Neville, P Danecek, T Coorens, ... bioRxiv, 2021.06. 01.446180, 2021 | 9* | 2021 |
| De novo mutations in regulatory elements cause neurodevelopmental disorders PJ Short, JF McRae, G Gallone, A Sifrim, H Won, DH Geschwind, ... bioRxiv, 112896, 2017 | 5 | 2017 |
| EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders E Lenassi, A Carvalho, A Thormann, L Abrahams, G Arno, T Fletcher, ... Journal of Medical Genetics 60 (8), 810-818, 2023 | 4 | 2023 |
| The contribution of non-canonical splicing mutations to severe dominant developmental disorders J Lord, G Gallone, PJ Short, JF McRae, H Ironfield, EH Wynn, SS Gerety, ... bioRxiv, 256636, 2018 | 4 | 2018 |
| Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis T Kmochová, KO Kidd, A Orr, A Hnízda, H Hartmannová, K Hodaňová, ... Kidney international 105 (4), 799-811, 2024 | 2 | 2024 |
| Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles HC Martin bioRxiv, 2017 | 2 | 2017 |
| Identifying and characterising germline hypermutators J Kaplanis, P Danecek, E Prigmore, R Rahbari, P Short, J Korbel, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 712-712, 2020 | 1 | 2020 |
