Michael E. Zwick

The paper analyzes genetic ancestry and population structure in the All of Us Research Program cohort, revealing diverse ancestry patterns and population structure.

The paper investigates the 3q29 genomic region, identifying novel haplotypes and breakpoint segments associated with deletion and duplication syndromes, and categorizes cases into distinct classes.

The paper identifies OTUD7A loss-of-function mutations in schizophrenia-associated 15q13.3 deletions and shows they impair synapse development and function in human neurons.

The paper shows that sex-specific differences in meiotic recombination rates are associated with parental origin biases in recurrent genomic disorders.

This study shows that the 3q29 deletion causes sex-specific metabolic changes in mice, which are not linked to behavioral issues, and that a high-fat diet can improve weight in females without worsening behavior.

This study systematically describes 3q29 duplication syndrome using a registry cohort, identifying common early-life issues and social disability features similar to the reciprocal deletion syndrome.

This study examines neuropsychiatric phenotypes in individuals with 3q29 deletion syndrome, finding higher ASD prevalence, especially in females, and distinct ASD features compared to idiopathic ASD.

Bystro provides rapid online variant annotation and natural-language filtering for large whole-genome sequencing experiments, significantly speeding up processing time.

This study investigates the association between copy number variants on chromosome 21 and congenital heart defects in Down syndrome, finding no direct link but suggesting ethnic differences in CNV patterns.