Elaine H. Zackai

Olfactory Deficits and Structural Anomalies of the Peripheral Olfactory System in 22q11.2 Deletion Syndrome

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.

Combinatorial effects of gene dosage, polygenic background and environment on complex traits

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

Prevalence and spectrum of congenital heart disease in individuals with distal chromosome 22q11.22-23 deletions

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.

Optically Mapped Black Genomes: Distinct Structures and 22q11.2 Deletion Syndrome Mechanisms

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.

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

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.

Platelet findings in 22q11.2 Deletion Syndrome correlate with disease manifestations but do not correlate with GP1b surface expression

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.

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing

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.

Disruption of the blood brain barrier in 22q11.2 deletion syndrome

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.

Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder

This study identifies de novo CBX1 variants in three individuals with neurodevelopmental features and shows they cause dominant-negative effects by disrupting HP1β chromatin binding.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

The paper identifies novel truncating mutations in CTNND1 associated with craniofacial and cardiac anomalies, expanding the known phenotypic spectrum of the gene.