Eugene James Gardner

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Matthew HurlesDirector, Senior Group Leader in Human Genetics, Wellcome Sanger InstitutePotvrđena adresa e-pošte na sanger.ac.uk
Caroline WrightProfessor of Genomics Medicine, University of ExeterPotvrđena adresa e-pošte na exeter.ac.uk
John RB PerryInstitute of Metabolic Science, University of CambridgePotvrđena adresa e-pošte na mrc-epid.cam.ac.uk
Kaitlin E. SamochaMassachusetts General HospitalPotvrđena adresa e-pošte na partners.org
David R FitzPatrickProfessor & Consultant in Paediatric Genetics, MRC Human Genetics Unit, University of EdinburghPotvrđena adresa e-pošte na nhs.net
Hilary MartinGroup Leader, Wellcome Sanger InstitutePotvrđena adresa e-pošte na sanger.ac.uk
Ken K. OngUniversity of CambridgePotvrđena adresa e-pošte na mrc-epid.cam.ac.uk
Katherine A KentistouMRC Epidemiology UnitPotvrđena adresa e-pošte na mrc-epid.cam.ac.uk
Devine Scott E.University of Maryland School of MedicinePotvrđena adresa e-pošte na som.umaryland.edu
Felix DayMRC Epidemiology UnitPotvrđena adresa e-pošte na mrc-epid.cam.ac.uk
Joanna KaplanisPostdoctoral fellow, Wellcome Sanger InstitutePotvrđena adresa e-pošte na sanger.ac.uk
Giuseppe GalloneBayer PharmaceuticalsPotvrđena adresa e-pošte na bayer.com
V Kartik ChundruUniversity of ExeterPotvrđena adresa e-pošte na exeter.ac.uk
Yajie ZhaoPrincipal Investigator, Changping LaboratoryPotvrđena adresa e-pošte na cam.ac.uk
Anna MurrayProfessor, University of ExeterPotvrđena adresa e-pošte na exeter.ac.uk
sir stephen o'rahillyuniversity of cambridgePotvrđena adresa e-pošte na medschl.cam.ac.uk
Kieron BarclayStockholm University and Swedish Collegium for Advanced Study (SCAS)Potvrđena adresa e-pošte na sociology.su.se
Martin KolkStockholm UniversityPotvrđena adresa e-pošte na sociology.su.se
Ryan E. MillsProfessor, University of Michigan Medical SchoolPotvrđena adresa e-pošte na umich.edu
Daniel N. HarrisUniversity of PennsylvaniaPotvrđena adresa e-pošte na Pennmedicine.upenn.edu

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Eugene James Gardner

Insmed Incorporated

Potvrđena adresa e-pošte na insmed.com - Početna stranica

Structural Variation Neurodegeneration UK Biobank Mobile Element Insertions


Naslov Poredaj po navodima Poredaj po godini Poredaj po naslovu	Citirano Citirano	Godina
A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015	16498	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	2562	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	845	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	539	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	371	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	306	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	158	2012
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	142	2023
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	113	2019
Contribution of retrotransposition to developmental disorders EJ Gardner, E Prigmore, G Gallone, P Danecek, KE Samocha, ... Nature Communications 10 (1), 4630, 2019	67	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	64	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	56	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	50	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	41	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	40	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	37	2023
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	35	2023
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk N Wilcox, M Dumont, A González-Neira, S Carvalho, C Joly Beauparlant, ... Nature genetics 55 (9), 1435-1439, 2023	33	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	33	2022
Large-scale exome sequence analysis identifies sex-and age-specific determinants of obesity LR Kaisinger, KA Kentistou, S Stankovic, EJ Gardner, FR Day, Y Zhao, ... Cell genomics 3 (8), 2023	25	2023

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