Hanna Berk-Rauch

The paper identifies noncoding MECP2 variants that cause male-biased autism by disrupting CRE activity and reducing MECP2 expression.

The paper investigates how sex steroid hormones influence metabolic and neuronal programs during human cortical development using single-cell RNA-seq and hormone exposure experiments.

The paper identifies sex-biased molecular vulnerabilities in the developing human cortex linked to neurodevelopmental disorders by integrating transcriptomic and epigenomic data with mutation analysis.

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

The paper identifies genes regulating blood pressure by analyzing enhancer variants and integrating epigenomic data with genotype-phenotype associations across multiple tissues.

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.

The paper identifies tissue-specific regulatory variants influencing blood pressure heritability using GWAS and gene expression data.

The paper analyzes de novo mutations in 1,465 genomes to show similar mutation rates across ancestries but reduced rates in the Amish population, with environmental factors possibly influencing mutation rates.