Incomplete penetrance and variable expressivity: from clinical studies to population cohorts
R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
A spectrum of recessiveness among Mendelian disease variants in UK Biobank
Recent work has found increasing evidence of mitigated, incompletely penetrant
phenotypes in heterozygous carriers of recessive Mendelian disease variants. We …
phenotypes in heterozygous carriers of recessive Mendelian disease variants. We …
Damaging missense variants in IGF1R implicate a role for IGF-1 resistance in the etiology of type 2 diabetes
Summary Type 2 diabetes (T2D) is a heritable metabolic disorder. While population studies
have identified hundreds of common genetic variants associated with T2D, the role of rare …
have identified hundreds of common genetic variants associated with T2D, the role of rare …
Association of pathogenic DNA variants predisposing to cardiomyopathy with cardiovascular disease outcomes and all-cause mortality
Importance Pathogenic variants associated with inherited cardiomyopathy are recognized
as important and clinically actionable when identified, leading some clinicians to …
as important and clinically actionable when identified, leading some clinicians to …
Frequency and phenotype associations of rare variants in 5 monogenic cerebral small vessel disease genes in 200,000 UK Biobank participants
AC Ferguson, S Thrippleton, D Henshall… - Neurology …, 2022 - AAN Enterprises
Background and Objectives Based on previous case reports and disease-based cohorts, a
minority of patients with cerebral small vessel disease (cSVD) have a monogenic cause …
minority of patients with cerebral small vessel disease (cSVD) have a monogenic cause …
Frequency and phenotype associations of rare variants in five monogenic cerebral small vessel disease genes in 200,000 UK Biobank participants with whole exome …
AC Ferguson, S Thrippleton, DE Henshall, E Whittaker… - medRxiv, 2021 - medrxiv.org
Based on previous case reports and disease-based cohorts, a minority of patients with
cerebral small vessel disease (cSVD) have a monogenic cause, with many also manifesting …
cerebral small vessel disease (cSVD) have a monogenic cause, with many also manifesting …