Dong Li

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

Contribution of Mendelian disorders in a population-based pediatric neurodegeneration cohort

The paper evaluates Mendelian causes of pediatric neurodegenerative disorders in a cohort of 69 patients, finding 42 genetic diagnoses and 32 unique disorders.

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

Genome-wide association study meta-analysis of suicide attempt identifies twelve genome-wide significant loci and implicates genetic risks for specific health factors

This paper conducts a multi-ancestry GWAS meta-analysis of suicide attempt, identifying 12 genome-wide significant loci and finding shared genetic risks with ADHD, smoking, and risk tolerance.

Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors

This study identifies genetic loci associated with suicide attempts and shows shared genetic architecture with psychiatric disorders and non-psychiatric risk factors.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep

The paper identifies ISWI as a chromatin remodeler required for adult sleep in Drosophila, with distinct developmental roles in sleep and other behaviors.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

The paper identifies novel truncating mutations in CTNND1 associated with craniofacial and cardiac anomalies, expanding the known phenotypic spectrum of the gene.

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

This paper uses transcriptomic imputation to identify gene-tissue associations linked to Anorexia Nervosa risk, finding significant links in both brain and metabolic tissues.