Jiang Li

This study assesses cancer risk and survival in POT1 variant carriers across multiple biobanks and finds increased cancer incidence but no increased mortality.

This study evaluates cancer risk and mortality in individuals with PALB2 pathogenic variants using genomic data from two cohorts, finding increased cancer odds and mortality.

This paper improves type 2 diabetes polygenic risk scores by including rare and population-specific variants, showing better risk prediction in diverse populations.

The paper conducts a large-scale rare variant GWAS meta-analysis of type 2 diabetes, identifying novel variants in monogenic diabetes genes and assessing their pathogenicity.

This study identifies race- and sex-specific increased risks of cerebrovascular and circulatory diseases in carriers of seven monogenic CSVD risk genes using a genotype-first approach in a large biobank cohort.

The paper investigates GABA transmission to GnRH neurons in an epilepsy mouse model, finding sex-specific changes linked to estrous cycle disruption.

The paper investigates whether GnRH neuron firing in female mice with epilepsy correlates with seizure severity and finds no such relationship.