Hemant Bengani

Neanderthal-derived variants shape craniofacial enhancer activity at a human disease locus

The paper investigates how Neanderthal-derived variants in an enhancer region affect craniofacial development and disease risk by testing their regulatory activity in zebrafish.

Characterization of an Eye Field-like State during Optic Vesicle Organoid Development

The paper uses optic vesicle organoids to study gene expression and chromatin changes during eye field specification, identifying key transcription factors and regulatory elements.

Robust genetic analysis of the X-linked anophthalmic (Ie) mouse

This study identifies a critical genomic region on the X chromosome linked to anophthalmia in mice but finds no clear causative mutation, suggesting regulatory changes may underlie the phenotype.

Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

The paper identifies rare CRE variants associated with X-linked intellectual disability by combining sequencing, functional assays in zebrafish and mice, and phenotypic analysis.