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Author Details

Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
2003
83
33
PMIDPaper TitleJournal TitlePublished Year
36441169Importance of adopting standardized MANE transcripts in clinical reporting.Genet Med2023
37349538Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.Nat Med2023
36855133Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.BMC Med Genomics2023
35108381Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.Diabetes2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
35700724Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population.Am J Hum Genet2022
35850704Recommendations for clinical interpretation of variants found in non-coding regions of the genome.Genome Med2022
36561149IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.HGG Adv2022
35869530Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.Genome Med2022
36167847Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.Nat Commun2022
36195757Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.Nat Genet2022
35983412Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.Front Genet2022
35920826Estimating diagnostic noise in panel-based genomic analysis.Genet Med2022
36257325Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.Am J Hum Genet2022
32843488Assessing performance of pathogenicity predictors using clinically relevant variant datasets.J Med Genet2021
33603196Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders.Genet Med2021
33682876Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders.Hum Mol Genet2021
33798434Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.Cell2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34626536Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.Am J Hum Genet2021
34022131Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.Am J Hum Genet2021
33149276Evaluating variants classified as pathogenic in ClinVar in the DDD Study.Genet Med2021
32574563Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates.Am J Hum Genet2020
31828606Expanded universal carrier screening and its implementation within a publicly funded healthcare service.J Community Genet2020
32004445Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.Am J Hum Genet2020
30279471Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.Genet Med2019
31886409Genomic variant sharing: a position statement.Wellcome Open Res2019
31737856Using Structural Analysis <i>In Silico</i> to Assess the Impact of Missense Variants in MEN1.J Endocr Soc2019
29904162When genomic medicine reveals misattributed genetic relationships-the debate about disclosure revisited.Genet Med2019
31227601Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.Genome Res2019
31278258Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.Nat Commun2019
31147538Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.Nat Commun2019
30446706Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.Genet Med2019
30665703Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.Am J Hum Genet2019
29290337KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.Am J Hum Genet2018
30258228Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.Nature2018
30409806Quantifying the contribution of recessive coding variation to developmental disorders.Science2018
29562236De novo mutations in regulatory elements in neurodevelopmental disorders.Nature2018
29456250Paediatric genomics: diagnosing rare disease in children.Nat Rev Genet2018
29398702Paediatric genomics: diagnosing rare disease in children.Nat Rev Genet2018
29323667Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.Genet Med2018
28053047Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.Hum Mol Genet2017
28317033Returning genome sequences to research participants: Policy and practice.Wellcome Open Res2017
28944233Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>.Mol Genet Genomic Med2017
28017370De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.Am J Hum Genet2017
25920556Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.Eur J Hum Genet2016
26593419Principle of proportionality in genomic data sharing.Nat Rev Genet2016
27479907Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.Nat Genet2016
26740553Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.Hum Mol Genet2016
25529584No expectation to share incidental findings in genomic research.Lancet2015
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James P Evans
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Collaborators

Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 33
Matthew E Hurles
Wellcome Sanger Institute
Co-authored papers 24
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 21
Sian Ellard
Royal Devon University Healthcare NHS Foundation Trust
Co-authored papers 10
Jeffrey C Barrett
Co-authored papers 9
Anna Middleton
Kavli Centre for Ethics, University of Cambridge
Co-authored papers 8
Michael N Weedon
Co-authored papers 7
Ganesh J Swaminathan
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 6
Andrew R Wood
Co-authored papers 5
Andrew T Hattersley
Co-authored papers 5
A Cecile J W Janssens
Co-authored papers 5
Muin J Khoury
Centers for Disease Control and Prevention Atlanta GA USA.
Co-authored papers 5
Michael J Pencina
Duke University Medical Center
Co-authored papers 4
Mark A Hlatky
Co-authored papers 4
Daniela Seminara
National Cancer Institute, 9609 Medical Center Dr
Co-authored papers 4
Peter Kraft
Harvard T. H. Chan School of Public Health
Co-authored papers 4
Paolo Boffetta
Co-authored papers 4
John P A Ioannidis
Stanford University
Co-authored papers 4
Timothy M Frayling
Co-authored papers 4
Sheri D Schully
National Institutes of Health
Co-authored papers 4
Cornelia M van Duijn
University of Oxford
Co-authored papers 4
Ron Zimmern
PHG Foundation
Co-authored papers 4
Hilary C Martin
Wellcome Sanger Institute
Co-authored papers 4
David F Ransohoff
Co-authored papers 4
Marta Gwinn
Rollins School of Public Health, Emory University
Co-authored papers 4
Christopher J O'Donnell
Brigham and Women's Hospital, Harvard Medical School
Co-authored papers 4
Katherine I Morley
The University of Melbourne
Co-authored papers 4
Fiona Cunningham
European Bioinformatics Institute
Co-authored papers 3
James S Ware
Co-authored papers 3
Charu Deshpande
Guy's Hospital
Co-authored papers 3
Release 1.2