Caroline Wright at University of Exeter - Research Interests, Publications & Academic Profile

Caroline Wright

Professor

University of Exeter

United Kingdom

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Research Interests

Biostatistics

90%

Epidemiology

30%

Medical Science

100%

Genomic

80%

Rare Disease

60%

Exome Sequencing

40%

Genome-wide Association

30%

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Articles18

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts

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Year:

2024

Genetic modifiers of rare variants in monogenic developmental disorder loci

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Year:

2024

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

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Year:

2023

Importance of adopting standardized MANE transcripts in clinical reporting

Article Link

Year:

2023

Evaluating the use of paralogous protein domains to increase data availability for missense variant classification

Article Link

Year:

2023

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

Article Link

Year:

2023

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels

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Year:

2023

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

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Year:

2022

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

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Year:

2022

Estimating diagnostic noise in panel-based genomic analysis.

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Year:

2022

Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts

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Year:

2022

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

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Year:

2022

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

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Year:

2022

Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population.

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Year:

2022

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.

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Year:

2022

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.

Article Link

Year:

2022

Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

Article Link

Year:

2022

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Article Link

Year:

2021

Collaborators11

Kashyap A Patel

University of Exeter Medical School

UNITED KINGDOM

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Edward Tobias

University of Glasgow

UNITED KINGDOM

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Manuel Corpas

Lecturer in Genomics

University of Westminster

UNITED KINGDOM

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James Buchanan

Queen Mary University of London

UNITED KINGDOM

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James Ware

Reader in Genomic Medicine

Imperial College London

UNITED KINGDOM

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Sarah Hunt

EMBL-European Bioinformatics Institute

UNITED KINGDOM

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Marcus Schewe

Kiel University

GERMANY

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Volker Straub

Newcastle University

UNITED KINGDOM

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Michael Simpson

King’s College London

UNITED KINGDOM

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Jamie Ellingford

The University of Manchester

UNITED KINGDOM

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Huw Thomas

The University of Manchester

UNITED KINGDOM

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