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Author Details

Helen Schuilenburg
European Bioinformatics Institute
2004
20
16
PMIDPaper TitleJournal TitlePublished Year
36318249Ensembl 2023.Nucleic Acids Res2023
34816521Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.Hum Mutat2022
34791404Ensembl 2022.Nucleic Acids Res2022
33137190Ensembl 2021.Nucleic Acids Res2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
35311178The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.Cell Genom2021
31691826Ensembl 2020.Nucleic Acids Res2020
30407521Ensembl 2019.Nucleic Acids Res2019
29155950Ensembl 2018.Nucleic Acids Res2018
30576484Ensembl variation resources.Database (Oxford)2018
27727279Regulatory T Cell Responses in Participants with Type 1 Diabetes after a Single Dose of Interleukin-2: A Non-Randomised, Open Label, Adaptive Dose-Finding Trial.PLoS Med2016
25652388IL-21 production by CD4+ effector T cells and frequency of circulating follicular helper T cells are increased in type 1 diabetes patients.Diabetologia2015
24720548A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples.BMC Genomics2014
21270240An allele of IKZF1 (Ikaros) conferring susceptibility to childhood acute lymphoblastic leukemia protects against type 1 diabetes.Diabetes2011
20360734Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.Nature2010
19430480Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.Nat Genet2009
17169983T1DBase: integration and presentation of complex data for type 1 diabetes research.Nucleic Acids Res2007
17554260Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.Nat Genet2007
15608258T1DBase, a community web-based resource for type 1 diabetes research.Nucleic Acids Res2005
15601538Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.Hum Genomics2004
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Collaborators

Sarah E Hunt
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Co-authored papers 10
Fiona Cunningham
European Bioinformatics Institute
Co-authored papers 9
Andrew D Yates
European Bioinformatics Institute
Co-authored papers 9
Paul Flicek
European Bioinformatics Institute
Co-authored papers 9
Adam Frankish
Co-authored papers 6
Chris Wallace
Co-authored papers 6
Daniel R Zerbino
European Bioinformatics Institute
Co-authored papers 5
Joanna M M Howson
Co-authored papers 4
Premanand Achuthan
European Bioinformatics Institute
Co-authored papers 4
Myrto Kostadima
Co-authored papers 3
Tiago Grego
Co-authored papers 3
John Tate
Co-authored papers 3
Brian Walsh
Oregon Health & Science University
Co-authored papers 2
Robert R Freimuth
Center for Individualized Medicine, Mayo Clinic
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Decio L Eizirik
Co-authored papers 2
Joannella Morales
Co-authored papers 2
Lawrence Babb
Broad Institute of MIT and Harvard
Co-authored papers 2
Daniel L Cameron
The Walter and Eliza Hall Institute of Medical Research
Co-authored papers 2
Javier Lopez
Genomics England Ltd
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Matthew H Brush
University of Colorado Anschutz Medical Campus
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Jeffrey C Barrett
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Josyf C Mychaleckyj
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Daniel M Staines
European Bioinformatics Institute
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Gil Alterovitz
Brigham and Women's Hospital
Co-authored papers 2
Matthew R Laird
European Bioinformatics Institute
Co-authored papers 2
Obi L Griffith
Washington University
Co-authored papers 2
Stephen S Rich
Co-authored papers 2
Malachi Griffith
Washington University
Co-authored papers 2
Reece K Hart
Broad Institute of MIT and Harvard
Co-authored papers 2
Tristan Nelson
Genomic Medicine Institute
Co-authored papers 2
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