Caroline F. Wright
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View article: How do clinician and parent reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study(GenROC)
How do clinician and parent reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study(GenROC) Open
Background Parent/patient-reported datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders yet their concordance with clinical data is unclear. Methods In the GenROC study 547 children (mean age 7.6y, ba…
View article: Genetic and lifestyle modifiers of haemochromatosis-related clinical outcomes in HFE C282Y homozygotes: prospective cohort study in UK Biobank
Genetic and lifestyle modifiers of haemochromatosis-related clinical outcomes in HFE C282Y homozygotes: prospective cohort study in UK Biobank Open
Background The iron overload disease haemochromatosis is primarily caused by HFE p.C282Y homozygosity, yet penetrance of clinical outcomes (including liver disease/cancer) varies. We estimated the effect of genetic and lifestyle factors on…
View article: Cell-specific expression biases in human cortex of genes associated with neurodevelopmental disorders
Cell-specific expression biases in human cortex of genes associated with neurodevelopmental disorders Open
Up to one third of congenital brain malformations and neurodevelopmental disorders are attributable to single-gene pathogenic variants, and yet we have little understanding of the cellular pathophysiology in the nervous system that arises …
View article: Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A <i>RET</i> Variants
Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A <i>RET</i> Variants Open
Importance RET germline pathogenic variants cause multiple endocrine neoplasia type 2 (MEN2), which is associated with medullary thyroid cancer. With increasing incidental identification of these variants in asymptomatic individuals outsid…
View article: Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations
Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations Open
Genetic association studies have mostly focussed on common variants from genotyping arrays or rare protein-coding variants from exome sequencing. Here, we used whole-genome sequence (WGS) data in 672,976 individuals of diverse ancestry to …
View article: Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels
Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels Open
The contribution of rare noncoding genetic variation to common phenotypes is largely unknown, as a result of a historical lack of population-scale whole-genome sequencing data and the difficulty of categorizing noncoding variants into func…
View article: Mutation Spectrum and Associated Risks of Medullary Thyroid Cancer and All-Cause Mortality in Incidentally Identified MEN2A-Causing<i>RET</i>Variants
Mutation Spectrum and Associated Risks of Medullary Thyroid Cancer and All-Cause Mortality in Incidentally Identified MEN2A-Causing<i>RET</i>Variants Open
Importance RET pathogenic variants cause Multiple Endocrine Neoplasia type 2 (MEN2), characterised by medullary thyroid cancer (MTC). With increasing incidental identification of these variants in asymptomatic individuals outside family sc…
View article: Examining the role of common variants in rare neurodevelopmental conditions
Examining the role of common variants in rare neurodevelopmental conditions Open
Although rare neurodevelopmental conditions have a large Mendelian component 1 , common genetic variants also contribute to risk 2,3 . However, little is known about how this polygenic risk is distributed among patients with these conditio…
View article: Curating genomic disease-gene relationships with Gene2Phenotype (G2P)
Curating genomic disease-gene relationships with Gene2Phenotype (G2P) Open
Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust critical evaluation for diagno…
View article: Phenotypic spectrum of dual diagnoses in developmental disorders
Phenotypic spectrum of dual diagnoses in developmental disorders Open
As more patients receive genome-wide sequencing, the number of individuals diagnosed with multiple monogenic conditions is increasing. We sought to investigate the relative phenotypic contribution of dual diagnoses using both manual curati…
View article: Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access Open
Purpose and scope The aim of this position statement is to provide recommendations regarding the delivery of genomic testing to patients with rare disease in the UK and Ireland. The statement has been developed to facilitate timely and equ…
View article: Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations Open
Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of whom 20.4% had gene…
View article: Substantial role of rare inherited variation in individuals with developmental disorders
Substantial role of rare inherited variation in individuals with developmental disorders Open
While the role of de novo and recessively-inherited coding variation in risk for rare developmental disorders (DDs) has been well established, the contribution of damaging variation dominantly-inherited from parents is less explored. Here,…
View article: Pathogenic variants associated with speech/cognitive delay and seizures affect genes with expression biases in excitatory neurons and microglia in developing human cortex
Pathogenic variants associated with speech/cognitive delay and seizures affect genes with expression biases in excitatory neurons and microglia in developing human cortex Open
Background & Objective Congenital brain malformations and neurodevelopmental disorders (NDDs) are common pediatric neurological disorders and result in chronic disability. With the expansion of genetic testing, new etiologies for NDDs are …
View article: An atlas of expressed transcripts in the prenatal and postnatal human cortex
An atlas of expressed transcripts in the prenatal and postnatal human cortex Open
Alternative splicing is a post-transcriptional mechanism that increases the diversity of expressed transcripts and plays an important role in regulating gene expression in the developing central nervous system. We used long-read transcript…
View article: Genetic modifiers of rare variants in monogenic developmental disorder loci
Genetic modifiers of rare variants in monogenic developmental disorder loci Open
Rare damaging variants in a large number of genes are known to cause monogenic developmental disorders (DDs) and have also been shown to cause milder subclinical phenotypes in population cohorts. Here, we show that carrying multiple (2−5) …
View article: Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions
Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions Open
Although rare neurodevelopmental conditions have a large Mendelian component, common genetic variants also contribute to risk. However, little is known about how this polygenic risk is distributed among patients with these conditions and t…
View article: Curating genomic disease-gene relationships with Gene2Phenotype
Curating genomic disease-gene relationships with Gene2Phenotype Open
Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature is variable and requires robust critical evalu…