Sumantra Chatterjee

Sod1 trisomy causes ENS developmental defects and susceptibility to Hirschsprung disease via neuronal Ret suppression and glial remodeling

This study shows that SOD1 trisomy disrupts ENS development and increases HSCR risk by reducing RET expression and altering glial states.

Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants

The paper assesses the functional impact of RET pathogenic variants in Hirschsprung disease by analyzing their effects on cell proliferation and migration in a neural crest-derived cell line.

Combined effects of Ret coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous system

The paper investigates how a non-coding variant in a RET enhancer and a coding null allele together cause loss of inhibitory motor neurons in the enteric nervous system, leading to Hirschsprung disease.

The Role of de novo and Ultra-Rare Variants in Hirschsprung Disease (HSCR): Extended Gene Discovery for Risk Profiling of Patients

The paper identifies 19 risk genes for Hirschsprung Disease, including 15 novel candidates, showing ultra-rare variants contribute significantly to disease risk and severity.

RET enhancer haplotype-dependent remodeling of the human fetal gut development program

The paper shows RET enhancer variants reduce gene expression and alter the fetal gut development program, potentially causing Hirschsprung disease through effects on neural crest cell proliferation.

Ret loss-of-function decreases enteric neural crest progenitor proliferation and restricts developmental fate potential during enteric nervous system development

This study shows that Ret loss-of-function in mouse embryos reduces enteric neural crest progenitor proliferation and limits neuronal fate potential during ENS development.

A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

The paper identifies 31 HSCR-associated variants in RET CREs, ten with differential enhancer activity and seven affecting RET expression, revealing an extensive regulatory code modulating HSCR risk.

De Novo Mutation in an Enhancer of EBF3 in simplex autism

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

The gastrointestinal development ‘parts list’: transcript profiling of embryonic gut development in wildtype and Ret-deficient mice

The paper profiles RNA-seq data from wildtype and Ret-deficient mouse gut tissues during embryonic development to identify genetic programs involved in enteric nervous system formation and disease.