Nicole R. Tartaglia

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.

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.

Latent class analysis identifies distinctive behavioral subtypes in children with fragile X syndrome

The paper uses latent class analysis to identify distinct behavioral subtypes in children with fragile X syndrome, revealing clinically meaningful groups with unique cognitive and behavioral profiles.

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.