List of works - Caroline Wright

A new strategic phase for genomic medicine in UK health services

scientific article published on 12 October 2009

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

scientific article published on 25 August 2020

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

scientific article published on 18 January 2019

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

scientific article published on 29 April 2015

Biomarkers, Dementia, and Public Health

article

Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing

scientific article published on 06 July 2009

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

scientific article published on 05 July 2019

Conceptual issues for screening in the genomic era - time for an update?

scientific article published on December 2014

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

scientific article

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

scientific article

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

scientific journal article

De novo mutations in regulatory elements in neurodevelopmental disorders.

scientific article

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

scientific article published on 5 October 2015

Empirical research on the ethics of genomic research

scientific article published on 27 June 2013

Evaluating variants classified as pathogenic in ClinVar in the DDD Study

scientific article published on 05 November 2020

Evaluation of genetic tests for susceptibility to common complex diseases: why, when and how?

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

scientific article published on 21 June 2019

Expanded universal carrier screening and its implementation within a publicly funded healthcare service

scientific article published on 11 December 2019

Extending the reach of public health genomics: what should be the agenda for public health in an era of genome-based and “personalized” medicine?

scientific article published in December 2010

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

scientific article

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

scientific article published on 30 May 2019

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

scientific article

Genomic variant sharing: a position statement

scientific article published on 05 February 2019

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

scientific article published on 03 October 2018

Informatics and clinical genome sequencing: opening the black box.

scientific article published on 13 September 2012

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

scientific article published on 5 January 2016

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

scientific article published on 11 January 2018

No expectation to share incidental findings in genomic research

scientific article published on 17 December 2014

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

scientific article published on 21 May 2021

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis ⬇️

scientific article

Paediatric genomics: diagnosing rare disease in children

scientific article

Parallel protein-unfolding pathways revealed and mapped

Pathogenicity and selective constraint on variation near splice sites

scientific article published on 26 December 2018

Potential research participants support the return of raw sequence data

scientific article

Principle of proportionality in genomic data sharing

scientific article

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.

scientific article published on 20 June 2017

Quality Issues in the Evaluation and Regulation of Genetic Testing Services: A Public Health Approach

article

Quantifying the contribution of recessive coding variation to developmental disorders

scientific article published in Science

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

scientific article published in 2022

Realising the benefits of genetics for health

scientific article published in The Lancet

Regulating direct-to-consumer genetic tests: What is all the fuss about?

Returning genome sequences to research participants: Policy and practice

scientific article published on 24 February 2017

Review of massively parallel DNA sequencing technologies

scientific article published on 27 October 2011

Size of the direct-to-consumer genomic testing market

scientific article published in September 2010

Strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS): explanation and elaboration

scientific article published on 16 March 2011

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

scientific article

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration

scientific article (publication date: April 2011)

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

scientific article

The Deciphering Developmental Disorders (DDD) study

scientific article published on 17 June 2011

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

The importance of loop length in the folding of an immunoglobulin domain

scientific article

The importance of sequence diversity in the aggregation and evolution of proteins

scientific article

The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis

scientific article published on 22 October 2008

Thermodynamic characterisation of two transition states along parallel protein folding pathways

scientific article

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1

scientific article published on 27 September 2019

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

When genomic medicine reveals misattributed genetic relationships-the debate about disclosure revisited

scientific article published on 14 June 2018

List of works by Caroline Wright

A new strategic phase for genomic medicine in UK health services

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

Biomarkers, Dementia, and Public Health

Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing

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

Conceptual issues for screening in the genomic era - time for an update?

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

De novo mutations in regulatory elements in neurodevelopmental disorders.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Empirical research on the ethics of genomic research

Evaluating variants classified as pathogenic in ClinVar in the DDD Study

Evaluation of genetic tests for susceptibility to common complex diseases: why, when and how?

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

Expanded universal carrier screening and its implementation within a publicly funded healthcare service

Extending the reach of public health genomics: what should be the agenda for public health in an era of genome-based and “personalized” medicine?

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Genomic variant sharing: a position statement

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

Informatics and clinical genome sequencing: opening the black box.

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

No expectation to share incidental findings in genomic research

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis ⬇️

Paediatric genomics: diagnosing rare disease in children

Parallel protein-unfolding pathways revealed and mapped

Pathogenicity and selective constraint on variation near splice sites

Potential research participants support the return of raw sequence data

Principle of proportionality in genomic data sharing

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.

Quality Issues in the Evaluation and Regulation of Genetic Testing Services: A Public Health Approach

Quantifying the contribution of recessive coding variation to developmental disorders

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

Realising the benefits of genetics for health

Regulating direct-to-consumer genetic tests: What is all the fuss about?

Returning genome sequences to research participants: Policy and practice

Review of massively parallel DNA sequencing technologies

Size of the direct-to-consumer genomic testing market

Strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS): explanation and elaboration

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

The Deciphering Developmental Disorders (DDD) study

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

The importance of loop length in the folding of an immunoglobulin domain

The importance of sequence diversity in the aggregation and evolution of proteins

The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis

Thermodynamic characterisation of two transition states along parallel protein folding pathways

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

When genomic medicine reveals misattributed genetic relationships-the debate about disclosure revisited