Publications by authors named "A T McRae"
Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.
View Article and Find Full Text PDFSex is an important covariate in all genetic and epigenetic research due to its role in the incidence, progression and outcome of many phenotypic characteristics and human diseases. Amyotrophic lateral sclerosis (ALS) is a motor neuron disease with a sex bias towards higher incidence in males. Here, we report for the first time a blood-based epigenome-wide association study meta-analysis in 9274 individuals after stringent quality control (5529 males and 3975 females).
View Article and Find Full Text PDFArticle Synopsis
- - This study is the first large-scale examination of rare copy number variants (CNVs) in anorexia nervosa (AN), involving data from 7,414 AN cases and 5,044 controls to explore their potential genetic links to the disorder.
- - The researchers investigated both well-known syndromic CNVs and those associated with other diseases but found no significant links between these variants and AN; however, they identified 21 potential CNV regions that may play a role in AN risk, particularly in areas related to metabolic and neurodevelopmental factors.
- - Ultimately, the findings suggest that rare CNVs have a limited impact on the development of AN, aligning it with other psychiatric disorders like bipolar disorder, and indicate that