| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 14926* | 2015 |
| An integrated map of structural variation in 2,504 human genomes PH Sudmant, T Rausch, EJ Gardner, RE Handsaker, A Abyzov, ... Nature 526 (7571), 75-81, 2015 | 2389 | 2015 |
| Multi-platform discovery of haplotype-resolved structural variation in human genomes MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ... Nature communications 10 (1), 1784, 2019 | 767 | 2019 |
| 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 | 432* | 2020 |
| The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology EJ Gardner, VK Lam, DN Harris, NT Chuang, EC Scott, WS Pittard, ... Genome research 27 (11), 1916-1929, 2017 | 333 | 2017 |
| A hot L1 retrotransposon evades somatic repression and initiates human colorectal cancer EC Scott, EJ Gardner, A Masood, NT Chuang, PM Vertino, SE Devine Genome research 26 (6), 745-755, 2016 | 290 | 2016 |
| Stable intronic sequence RNA (sisRNA), a new class of noncoding RNA from the oocyte nucleus of Xenopus tropicalis EJ Gardner, ZF Nizami, CC Talbot, JG Gall Genes & development 26 (22), 2550-2559, 2012 | 152 | 2012 |
| Human-specific tandem repeat expansion and differential gene expression during primate evolution A Sulovari, R Li, PA Audano, D Porubsky, MR Vollger, GA Logsdon, ... Proceedings of the National Academy of Sciences 116 (46), 23243-23253, 2019 | 96 | 2019 |
| 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 | 81 | 2023 |
| Contribution of retrotransposition to developmental disorders EJ Gardner, E Prigmore, G Gallone, P Danecek, KE Samocha, ... Nature Communications 10 (1), 4630, 2019 | 64 | 2019 |
| Reduced reproductive success is associated with selective constraint on human genes EJ Gardner, MDC Neville, KE Samocha, K Barclay, M Kolk, MEK Niemi, ... Nature 603 (7903), 858-863, 2022 | 48* | 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 | 46 | 2021 |
| 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 | 39 | 2021 |
| Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus I Mathieson, FR Day, N Barban, FC Tropf, DM Brazel, ... Nature human behaviour 7 (5), 790-801, 2023 | 30 | 2023 |
| Damaging missense variants in IGF1R implicate a role for IGF-1 resistance in the etiology of type 2 diabetes EJ Gardner, KA Kentistou, S Stankovic, S Lockhart, E Wheeler, FR Day, ... Cell genomics 2 (12), 2022 | 25 | 2022 |
| Detection and characterization of male sex chromosome abnormalities in the UK Biobank study Y Zhao, EJ Gardner, MA Tuke, H Zhang, M Pietzner, M Koprulu, RY Jia, ... Genetics in medicine 24 (9), 1909-1919, 2022 | 22 | 2022 |
| Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation EJ Radford, HK Tan, MHL Andersson, JD Stephenson, EJ Gardner, ... Nature Communications 14 (1), 7702, 2023 | 21 | 2023 |
| Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders EJ Gardner, A Sifrim, SJ Lindsay, E Prigmore, D Rajan, P Danecek, ... The American Journal of Human Genetics 108 (11), 2186-2194, 2021 | 18 | 2021 |
| Mutagenesis of human genomes by endogenous mobile elements on a population scale NT Chuang, EJ Gardner, DM Terry, J Crabtree, AA Mahurkar, GL Rivell, ... Genome Research 31 (12), 2225-2235, 2021 | 16 | 2021 |
| Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency S Shekari, S Stankovic, EJ Gardner, G Hawkes, KA Kentistou, ... Nature Medicine 29 (7), 1692-1699, 2023 | 15 | 2023 |
Matthew HurlesDirector, Senior Group Leader in Human Genetics, Wellcome Sanger Institute在 sanger.ac.uk 的电子邮件经过验证
