| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 1003 | 2017 |
| 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 | 474 | 2020 |
| Quantitative analysis of population-scale family trees with millions of relatives J Kaplanis, A Gordon, T Shor, O Weissbrod, D Geiger, M Wahl, ... Science 360 (6385), 171-175, 2018 | 249 | 2018 |
| 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 | 217 | 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 | 191* | 2018 |
| Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ... Neurology 89 (10), 1035-1042, 2017 | 134 | 2017 |
| Similarities and differences in patterns of germline mutation between mice and humans SJ Lindsay, R Rahbari, J Kaplanis, T Keane, ME Hurles Nature communications 10 (1), 4053, 2019 | 105* | 2019 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... Nature communications 9 (1), 4619, 2018 | 103 | 2018 |
| Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland CF Wright, P Campbell, RY Eberhardt, S Aitken, D Perrett, S Brent, ... New England Journal of Medicine 388 (17), 1559-1571, 2023 | 101 | 2023 |
| Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation B Soskic, E Cano-Gamez, DJ Smyth, K Ambridge, Z Ke, JC Matte, ... Nature genetics 54 (6), 817-826, 2022 | 79 | 2022 |
| Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data CF Wright, E Prigmore, D Rajan, J Handsaker, J McRae, J Kaplanis, ... Nature communications 10 (1), 2985, 2019 | 75 | 2019 |
| Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ... The American Journal of Human Genetics 104 (6), 1210-1222, 2019 | 74 | 2019 |
| Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 62 | 2019 |
| 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 | 59 | 2022 |
| Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms CF Wright, NM Quaife, L Ramos-Hernández, P Danecek, MP Ferla, ... The American Journal of Human Genetics 108 (6), 1083-1094, 2021 | 48 | 2021 |
| Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations J Kaplanis, N Akawi, G Gallone, JF McRae, E Prigmore, CF Wright, ... Genome research 29 (7), 1047-1056, 2019 | 48 | 2019 |
| The contribution of X-linked coding variation to severe developmental disorders HC Martin, EJ Gardner, KE Samocha, J Kaplanis, N Akawi, A Sifrim, ... Nature communications 12 (1), 627, 2021 | 43 | 2021 |
| Deciphering Developmental Disorders Study J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ... Evidence for 28, 757-762, 2020 | 30 | 2020 |
| 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 |
| Optimising diagnostic yield in highly penetrant genomic disease CF Wright, P Campbell, RY Eberhardt, S Aitken, D Perrett, S Brent, ... medRxiv, 2022.07. 25.22278008, 2022 | 7 | 2022 |
