Sharayu V. Jangam

This study investigates the functional impact of a DNM1L GED deletion variant, showing intermediate effects on peroxisomal and mitochondrial dynamics and a targetable metabolic vulnerability.

This study investigates the functional impact of different NLGN3 variants in Drosophila, finding distinct effects on synapse morphology, sleep behavior, and vesicle dynamics.

This study uses Drosophila to model PEX gene variants associated with different severities of peroxisomal biogenesis disorders, showing phenotypic variation based on mutation type.

The paper identifies a hypomorphic SLC6A1 variant causing variable expressivity in neurodevelopmental disorders using clinical phenotyping and Drosophila models.

This paper investigates the role of the Drosophila ABCD1 ortholog in peroxisomal dynamics and shows that human ABCD1 overexpression inhibits peroxisomal biogenesis.

The paper identifies de novo RBBP5 variants in individuals with neurodevelopmental disorders and shows they cause loss of function through structural and Drosophila model analyses.

The paper identifies de novo and inherited variants in DDX39B causing a syndrome with neurodevelopmental delay, short stature, and hypotonia, supported by molecular modeling and functional studies in Drosophila.

A de novo EZH1 variant p.Ala678Gly is linked to neurodevelopmental delay and shows functional deficits in Drosophila melanogaster.

The paper identifies de novo MRTFB variants in humans linked to a neurodevelopmental disorder and shows their gain of function activity in Drosophila with specific phenotypes.

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

The paper identifies 18 Drosophila genes affecting peroxisomes through a genetic screen and links their human homologs to potential dominant genetic diseases.