Benjamin E. Low

This study inserts a human RET haplotype into mice to model Hirschsprung disease, finding that regulatory variants reduce RET expression and contribute to disease.

The paper develops new mouse reporter models to detect genome editing events in vivo, including gene repair and CRISPR indels, and A-base editor activity.

This paper uses CRISPR-mediated conditional mutagenesis to show BMP/GDF signaling restricts postnatal bone overgrowth by regulating both periosteal and endosteal osteoblasts.

This study identifies the distinct roles of GNAI proteins in mouse auditory hair cell polarization and morphogenesis, revealing compensatory mechanisms and novel defects upon their inactivation.

This paper develops a method for efficient targeted transgenesis of large DNA constructs into multiple mouse genetic backgrounds using Bxb1 integrase, achieving high integration efficiency and precise insertion.

The paper shows that gene disruption strategies in mice can lead to unexpected exon skipping and translation, resulting in gain-of-function alleles instead of null phenotypes.