Eugene James Gardner

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Matthew HurlesDirector, Senior Group Leader in Human Genetics, Wellcome Sanger InstituteAdresse e-mail validée de sanger.ac.uk
Kaitlin E. SamochaMassachusetts General HospitalAdresse e-mail validée de partners.org
Caroline F. WrightUniversity of Exeter Medical SchoolAdresse e-mail validée de exeter.ac.uk
Devine Scott E.University of Maryland School of MedicineAdresse e-mail validée de som.umaryland.edu
David R FitzPatrickProfessor & Consultant in Paediatric Genetics, MRC Human Genetics Unit, University of EdinburghAdresse e-mail validée de nhs.net
Hilary MartinGroup Leader, Wellcome Sanger InstituteAdresse e-mail validée de sanger.ac.uk
John RB PerryInstitute of Metabolic Science, University of CambridgeAdresse e-mail validée de mrc-epid.cam.ac.uk
Joanna KaplanisPostdoctoral fellow, Wellcome Sanger InstituteAdresse e-mail validée de sanger.ac.uk
Ken K. OngUniversity of CambridgeAdresse e-mail validée de mrc-epid.cam.ac.uk
Felix DayMRC Epidemiology UnitAdresse e-mail validée de mrc-epid.cam.ac.uk
Giuseppe GalloneBayer PharmaceuticalsAdresse e-mail validée de bayer.com
Katherine A KentistouMRC Epidemiology UnitAdresse e-mail validée de mrc-epid.cam.ac.uk
V Kartik ChundruUniversity of ExeterAdresse e-mail validée de exeter.ac.uk
Yajie ZhaoMRC Postdoctoral Fellow, MRC Epidemiology Unit, University of CambridgeAdresse e-mail validée de cam.ac.uk
Ryan E. MillsAssociate Professor, University of Michigan Medical SchoolAdresse e-mail validée de umich.edu
Daniel N. HarrisUniversity of PennsylvaniaAdresse e-mail validée de Pennmedicine.upenn.edu
Anna MurrayProfessor, University of ExeterAdresse e-mail validée de exeter.ac.uk
Matthew DC NevilleWellcome Sanger InstituteAdresse e-mail validée de sanger.ac.uk
Zehra F NizamiSenior Applications Development Scientist, Project Lead, Oxford Nanoimaging (ONI)Adresse e-mail validée de oni.bio
Joseph GallCarnegie Institution for ScienceAdresse e-mail validée de carnegiescience.edu

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Eugene James Gardner

Assoc. Director – Human Genetics, Insmed

Adresse e-mail validée de insmed.com - Page d'accueil

Human Genetics Rare Variation Structural Variation


Titre Trier par citations Trier par année Trier par titre	Citée par Citée par	Année
A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015	14588*	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	2348	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	753	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	414*	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	324	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	285	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	151	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	94	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	66	2023
Contribution of retrotransposition to developmental disorders EJ Gardner, E Prigmore, G Gallone, P Danecek, KE Samocha, ... Nature Communications 10 (1), 4630, 2019	62	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	46*	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	45	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	27	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	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	20	2023
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	17	2022
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	17	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	15	2021
Shared and distinct genetic etiologies for different types of clonal hematopoiesis DW Brown, LD Cato, Y Zhao, SK Nandakumar, EL Bao, EJ Gardner, ... Nature communications 14 (1), 5536, 2023	9	2023

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