Donna M. McDonald‐McGinn

This study investigates olfactory deficits and structural anomalies in the olfactory system among individuals with 22q11.2 deletion syndrome compared to psychosis spectrum and typically developing controls.

CranioTrace automates head circumference and cranial shape measurement from neuroimaging, enabling population growth modeling and identifying disease-related growth trajectory shifts.

This study examines congenital heart disease in individuals with distal 22q11.22-23 deletions, finding lower prevalence compared to proximal deletions and identifying specific cardiac anomalies.

The paper analyzes optical mapping data from Black and white genomes to reveal structural differences in 22q11.2 low copy repeats (LCR22s) and their potential role in the lower prevalence of 22q11.2DS in Black individuals.

The paper investigates the mechanisms behind the high incidence of 22q11.2 deletion syndrome by analyzing recombination events and paralogous structures in LCR22 regions.

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

The paper examines platelet parameters in 22q11.2 deletion syndrome patients, finding that deletion status of GP1BB, not surface expression, determines platelet counts and that counts decrease with age.

This study identifies altered functional brain dynamics in 22q11.2DS during facial affect processing using fMRI, showing preserved early visual and insular activation but diminished motor feedback and emotional memory signals.

This study shows that the blood brain barrier in 22q11.2 deletion syndrome is compromised, leading to increased neuroinflammation and potential risk for neuropsychiatric disorders.

The paper characterizes the structural variability of 22q11 low copy repeats (LCRs) using optical and Bionano mapping, revealing high haplotype diversity and population-specific differences.