Shanlee Davis

Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies across the Globe: a 20-year Systematic Review

This paper reviews 20 years of sex chromosome aneuploidy studies, finding geographic concentration and underrepresentation of diverse racial, ethnic, and socioeconomic groups in participant demographics.

Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank

This study identifies prevalence and disease risks for male and female sex chromosome trisomies using registry data from 1.5 million participants, finding shared phenotypic associations across trisomy subtypes.

Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Design, and Methods for the GALAXY Registry

The paper introduces the GALAXY Registry, a longitudinal study aimed at improving diagnosis and understanding of sex chromosome aneuploidies through increased demographic diversity.

The human Y and inactive X chromosomes similarly modulate autosomal gene expression

The paper shows that the inactive X and Y chromosomes similarly affect autosomal gene expression in human cells through shared transcription factors.

Prevalence, Morbidity, and Mortality of 1,609 Men with Diagnosed and Undiagnosed Sex Chromosome Aneuploidy: Results from the Diverse Million Veteran Program (MVP) Cohort

The paper examines the prevalence, morbidity, and mortality of sex chromosome aneuploidy in men from the MVP cohort, finding a prevalence of 1 in 370 males with higher healthcare utilization and poorer HRQoL but similar life expectancy compared to controls.

The human inactive X chromosome modulates expression of the active X chromosome

The paper shows that the inactive X chromosome modulates the expression of the active X chromosome in humans, affecting 38% of X-linked genes and contributing to sex differences in disease.

Non-Invasive Prenatal Testing (NIPT) Results for Participants of the eXtraordinarY Babies Study: Screening, Counseling, Diagnosis, and Discordance

This study examines the timing of diagnostic testing after positive NIPT in infants with SCAs and identifies factors influencing deferral decisions and discordant results.