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Author Details

Fiona Cunningham
European Bioinformatics Institute
2003
84
44
PMIDPaper TitleJournal TitlePublished Year
36318249Ensembl 2023.Nucleic Acids Res2023
36350656The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.Nucleic Acids Res2023
36420896GENCODE: reference annotation for the human and mouse genomes in 2023.Nucleic Acids Res2023
36318249Ensembl 2023.Nucleic Acids Res2023
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
36669873EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.J Med Genet2023
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
36420896GENCODE: reference annotation for the human and mouse genomes in 2023.Nucleic Acids Res2023
36669873EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.J Med Genet2023
36350656The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.Nucleic Acids Res2023
34718739The European Variation Archive: a FAIR resource of genomic variation for all species.Nucleic Acids Res2022
35388217A joint NCBI and EMBL-EBI transcript set for clinical genomics and research.Nature2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
36478917Eradication of early MRSA infection in cystic fibrosis: a novel study design for the STAR-ter trial.ERJ Open Res2022
34791404Ensembl 2022.Nucleic Acids Res2022
34718739The European Variation Archive: a FAIR resource of genomic variation for all species.Nucleic Acids Res2022
35143074DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Hum Mutat2022
34816521Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.Hum Mutat2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
35388217A joint NCBI and EMBL-EBI transcript set for clinical genomics and research.Nature2022
36478917Eradication of early MRSA infection in cystic fibrosis: a novel study design for the STAR-ter trial.ERJ Open Res2022
35143074DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Hum Mutat2022
34791404Ensembl 2022.Nucleic Acids Res2022
34816521Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.Hum Mutat2022
33268232"It's something I've committed to longer term": The impact of an immersion program for physicians on adoption of genomic medicine.Patient Educ Couns2021
33137190Ensembl 2021.Nucleic Acids Res2021
33270111GENCODE 2021.Nucleic Acids Res2021
33268232"It's something I've committed to longer term": The impact of an immersion program for physicians on adoption of genomic medicine.Patient Educ Couns2021
34435752The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements.Mol Genet Genomic Med2021
34646879Impact of the SARS-CoV-2 pandemic on cystic fibrosis centres and care: survey results from US centres.ERJ Open Res2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34646879Impact of the SARS-CoV-2 pandemic on cystic fibrosis centres and care: survey results from US centres.ERJ Open Res2021
34435752The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements.Mol Genet Genomic Med2021
33137190Ensembl 2021.Nucleic Acids Res2021
33270111GENCODE 2021.Nucleic Acids Res2021
32652611Frontal fibrosing alopecia: a descriptive cross-sectional study of 711 cases in female patients from the UK.Br J Dermatol2020
31691826Ensembl 2020.Nucleic Acids Res2020
32652611Frontal fibrosing alopecia: a descriptive cross-sectional study of 711 cases in female patients from the UK.Br J Dermatol2020
31691826Ensembl 2020.Nucleic Acids Res2020
30407521Ensembl 2019.Nucleic Acids Res2019
30407521Ensembl 2019.Nucleic Acids Res2019
30357393GENCODE reference annotation for the human and mouse genomes.Nucleic Acids Res2019
30445434The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.Nucleic Acids Res2019
30206421IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.Genet Med2019
30385175The role of placental growth factor (PlGF) and its receptor system in retinal vascular diseases.Prog Retin Eye Res2019
30279470Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.Genet Med2019
30850646Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.Nat Commun2019
30776170A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.J Genet Couns2019
31461344Molecular mechanism of TMEM16A regulation: role of CaMKII and PP1/PP2A.Am J Physiol Cell Physiol2019
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Collaborators

Paul Flicek
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Ewan Birney
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Co-authored papers 21
Sarah E Hunt
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Co-authored papers 19
Andrew D Yates
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Co-authored papers 17
Tim Hubbard
Co-authored papers 14
Richard Durbin
University of Cambridge
Co-authored papers 11
Adam Frankish
Co-authored papers 11
Daniel R Zerbino
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Co-authored papers 11
Stephen M J Searle
Wellcome Trust Sanger Institute
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Joannella Morales
Co-authored papers 10
Helen Schuilenburg
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Michael Schuster
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
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Damian Keefe
University of Adelaide
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Graham R S Ritchie
Wellcome Sanger Institute
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Damian Smedley
William Harvey Research Institute, Queen Mary University of London
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Daniel Barrell
Oncology R&D
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Jacqueline A L MacArthur
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Rishi Nag
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Laura Clarke
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Helen V Firth
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Helen Parkinson
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Susan Fairley
European Bioinformatics Institute
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Stefan Gr??f
Heart and Lung Research Institute, University of Cambridge
Co-authored papers 5
Jennifer Harrow
Co-authored papers 5
Arek Kasprzyk
European Bioinformatics Institute (EBI)
Co-authored papers 5
Tiago Grego
Co-authored papers 5
Premanand Achuthan
European Bioinformatics Institute
Co-authored papers 5
Lincoln Stein
Ontario Institute for Cancer Research, University Avenue
Co-authored papers 5
Karyn Megy
University of Cambridge
Co-authored papers 4
Mark Gerstein
Yale University
Co-authored papers 4
Release 1.2