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Works (22)

COSMIC: a curated database of somatic variants and clinical data for cancer.

Nucleic acids research
2024-01-01 | Journal article
DOI: 10.1093/nar/gkad986
PMID: 38183204
PMC: PMC10767972
Contributors: Zbyslaw Sondka; Dhir NB; Dr D Carvalho-Silva; Jupe S; Madhumita; McLaren K; Starkey M; Ward S; Wilding J; Ahmed M et al.
Source: Self-asserted source
Helen Schuilenburg

Ensembl 2023.

Nucleic acids research
2023-01-01 | Journal article
DOI: 10.1093/nar/gkac958
PMID: 36318249
PMC: PMC9825606
Contributors: Fergal Martin; Amode MR; Aneja A; Ola Austine Orimoloye; Andrey Azov; Barnes I; Becker A; Esther Ruth Bennett; Andrew Berry; Jyothish Bhai et al.
Source: Self-asserted source
Helen Schuilenburg

Ensembl 2022.

Nucleic acids research
2022-01 | Journal article
DOI: 10.1093/nar/gkab1049
PMID: 34791404
PMC: PMC8728283
Contributors: Cunningham F; Allen JE; Allen J; Alvarez-Jarreta J; Amode MR; Armean IM; Austine-Orimoloye O; Azov AG; Barnes I; Bennett R et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.

Human mutation
2021-11 | Journal article
DOI: 10.1002/humu.24298
PMID: 34816521
Contributors: Hunt SE; Moore B; Amode RM; Armean IM; Lemos D; Mushtaq A; Parton A; Schuilenburg H; Szpak M; Thormann A et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Cell genomics
2021-11 | Other
DOI: 10.1016/j.xgen.2021.100029
OTHER-ID:

C8136
Contributors: Rehm HL; Page AJH; Smith L; Adams JB; Alterovitz G; Babb LJ; Barkley MP; Baudis M; Beauvais MJS; Beck T et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.

Cell genomics
2021-11-01 | Journal article
DOI: 10.1016/j.xgen.2021.100027
PMID: 35311178
PMC: PMC8929418
Contributors: Alex Wagner; Babb L; Alterovitz G; Michael Baudis; Brush M; Daniel Cameron; Cline M; Griffith M; Griffith OL; Sarah Hunt et al.
Source: Self-asserted source
Helen Schuilenburg

Annotating and prioritising genomic variants using the Ensembl Variant Effect Predictor - a tutorial

2021-06 | Preprint
DOI: 10.22541/au.162460842.27880071/v1
PPR: PPR361980
Contributors: Hunt S; Moore B; Amode M; Armean I; Lemos D; Mushtaq A; Parton A; Schuilenburg H; Szpak M; Thormann A et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

Ensembl 2021.

Nucleic acids research
2021-01 | Journal article
DOI: 10.1093/nar/gkaa942
PMID: 33137190
PMC: PMC7778975
Contributors: Howe KL; Achuthan P; Allen J; Allen J; Alvarez-Jarreta J; Amode MR; Armean IM; Azov AG; Bennett R; Bhai J et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation

2021-01 | Preprint
DOI: 10.1101/2021.01.15.426843
PPR: PPR266924
Contributors: Wagner AH; Babb L; Alterovitz G; Baudis M; Brush M; Cameron DL; Cline M; Griffith M; Griffith OL; Hunt S et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

Ensembl 2020.

Nucleic acids research
2019-11 | Journal article
DOI: 10.1093/nar/gkz966
PMID: 31691826
Contributors: Yates AD; Achuthan P; Akanni W; Allen J; Allen J; Alvarez-Jarreta J; Amode MR; Armean IM; Azov AG; Bennett R et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

Ensembl 2019.

Nucleic acids research
2019-01 | Journal article
DOI: 10.1093/nar/gky1113
PMID: 30407521
Contributors: Cunningham F; Achuthan P; Akanni W; Allen J; Amode MR; Armean IM; Bennett R; Bhai J; Billis K; Boddu S et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

Ensembl 2018.

Nucleic acids research
2018-01 | Journal article
DOI: 10.1093/nar/gkx1098
PMID: 29155950
PMC: PMC5753206
Contributors: Zerbino DR; Achuthan P; Akanni W; Amode MR; Barrell D; Bhai J; Billis K; Cummins C; Gall A; Girón CG et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

Ensembl variation resources.

Database : the journal of biological databases and curation
2018-01 | Journal article
DOI: 10.1093/database/bay119
PMID: 30576484
PMC: PMC6310513
Contributors: Hunt SE; McLaren W; Gil L; Thormann A; Schuilenburg H; Sheppard D; Parton A; Armean IM; Trevanion SJ; Flicek P et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

Regulatory 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.

2016-10 | Journal article
DOI: 10.1371/journal.pmed.1002139
PMID: 27727279
PMC: PMC5058548
Contributors: Todd JA; Evangelou M; Cutler AJ; Pekalski ML; Walker NM; Stevens HE; Porter L; Smyth DJ; Rainbow DB; Ferreira RC et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

IL-21 production by CD4+ effector T cells and frequency of circulating follicular helper T cells are increased in type 1 diabetes patients.

2015-04 | Journal article
DOI: 10.1007/s00125-015-3509-8
PMID: 25652388
PMC: PMC4351433
Contributors: Ferreira RC; Simons HZ; Thompson WS; Cutler AJ; Dopico XC; Smyth DJ; Mashar M; Schuilenburg H; Walker NM; Dunger DB et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples.

2014-04 | Journal article
DOI: 10.1186/1471-2164-15-274
PMID: 24720548
PMC: PMC4029094
Contributors: Pontikos N; Smyth DJ; Schuilenburg H; Howson JM; Walker NM; Burren OS; Guo H; Onengut-Gumuscu S; Chen WM; Concannon P et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

An allele of IKZF1 (Ikaros) conferring susceptibility to childhood acute lymphoblastic leukemia protects against type 1 diabetes.

2011-03 | Journal article
DOI: 10.2337/db10-0446
PMID: 21270240
PMC: PMC3046822
Contributors: Swafford AD; Howson JM; Davison LJ; Wallace C; Smyth DJ; Schuilenburg H; Maisuria-Armer M; Mistry T; Lenardo MJ; Todd JA
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

2009-06 | Journal article
DOI: 10.1038/ng.381
PMID: 19430480
PMC: PMC2889014
Contributors: Barrett JC; Clayton DG; Concannon P; Akolkar B; Cooper JD; Erlich HA; Julier C; Morahan G; Nerup J; Nierras C et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

2007-07 | Journal article
DOI: 10.1038/ng2068
PMID: 17554260
PMC: PMC2492393
Contributors: Todd JA; Walker NM; Cooper JD; Smyth DJ; Downes K; Plagnol V; Bailey R; Nejentsev S; Field SF; Payne F et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

T1DBase: integration and presentation of complex data for type 1 diabetes research.

2007-01 | Journal article
DOI: 10.1093/nar/gkl933
PMID: 17169983
PMC: PMC1781218
Contributors: Hulbert EM; Smink LJ; Adlem EC; Allen JE; Burdick DB; Burren OS; Cassen VM; Cavnor CC; Dolman GE; Flamez D et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

T1DBase, a community web-based resource for type 1 diabetes research.

2005-01 | Journal article
DOI: 10.1093/nar/gki095
PMID: 15608258
PMC: PMC540049
Contributors: Smink LJ; Helton EM; Healy BC; Cavnor CC; Lam AC; Flamez D; Burren OS; Wang Y; Dolman GE; Burdick DB et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central

Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.

2004-01 | Journal article
DOI: 10.1186/1479-7364-1-2-98
PMID: 15601538
PMC: PMC3525068
Contributors: Burren OS; Healy BC; Lam AC; Schuilenburg H; Dolman GE; Everett VH; Laneri D; Nutland S; Rance HE; Payne F et al.
Source: Self-asserted source
Helen Schuilenburg via Europe PubMed Central
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