Eugene James Gardner
Eugene James Gardner
Wellcome Sanger Institute
Verified email at - Homepage
Cited by
Cited by
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 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
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), 1-16, 2019
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
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
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
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
Contribution of retrotransposition to developmental disorders
EJ Gardner, E Prigmore, G Gallone, P Danecek, KE Samocha, ...
Nature communications 10 (1), 1-10, 2019
Sex-biased reduction in reproductive success drives selective constraint on human genes
EJ Gardner, MDC Neville, KE Samocha, K Barclay, M Kolk, MEK Niemi, ...
BioRxiv, 2020
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, 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), 1-13, 2021
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, ...
medRxiv, 2020.10. 02.20194241, 2021
Mobile Element Discovery and Activity in Human Populations and Diseases
EJ Gardner
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