Wendy K. Chung

The paper compares clinical and behavioral effects of different MAPK8IP3 variants in humans and mice, showing shared and distinct phenotypes linked to specific protein domains.

PRANA adapts polygenic risk scores to non-European populations, improving predictive accuracy by 5%-20% in South Asian, East Asian, and Ashkenazi Jewish populations.

The paper uses fetal MRI to find reduced cortical surface area in fetuses later diagnosed with ASD compared to controls.

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

The paper validates two genes, Cnot1 and Cdc42bpb, as causes of congenital diaphragmatic hernia in mice using patient-specific variants and shows distinct hernia phenotypes.

This study identifies dysregulated TGFβ-ERK signaling as a driver of aberrant extracellular matrix production in Noonan syndrome-associated pulmonary valve stenosis using iPSC models and patient tissue.

The paper identifies a pathogenetic mechanism for RPL3L-linked dilated cardiomyopathy, showing that gain-of-toxicity variants in muscle-specific ribosomes cause severe neonatal heart failure.

This study creates an age-aware genotype-phenotype atlas for 87 neurodevelopmental disorders using data from the Simons Searchlight cohort, identifying gene-specific risk profiles and age-dependent penetrance patterns.

The paper analyzes over 800,000 human genomes to assess penetrance of clinically relevant variants, finding that 95% of pLoF variants in severe diseases have explanations for lack of disease manifestation.

The paper identifies rare variants in PRKCI as a novel cause of Van der Woude syndrome and other peridermopathy features through clinical and functional analyses.

PreMode predicts the mode-of-action of missense variants using graph neural networks, achieving state-of-the-art performance in mode-of-action classification.

This study uses AI to show that genome sequencing can predict adverse outcomes after congenital heart defect surgery by identifying damaging genotypes in specific genes.

The paper develops a pipeline for integrated breast cancer risk assessment using polygenic risk scores and other factors in the eMERGE study, showing high concordance between API and UI results.

The paper introduces MisFit, a probabilistic graphical model to estimate selection coefficients of missense variants using population sequence data, showing improved performance in prioritizing disease-associated variants.

The paper examines how different amino acid substitutions at the same KIF1A residue lead to distinct clinical and molecular outcomes in KIF1A-associated neurological disorders.

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

This study shows GATA6 regulates WNT and BMP programs in human precardiac mesoderm patterning, and modulating these pathways can rescue cardiomyocyte defects in GATA6 mutants.

This study shows that MYRF is essential for mesothelial cell function in lung development and maturation, with its mutation causing congenital diaphragmatic hernia.

The paper examines how covariates affect polygenic score performance across European and African cohorts, finding significant differences in R2 and interaction effects, and proposes methods to improve model performance.

The paper develops adapted ACMG/AMP guidelines for classifying BMPR2 variants in PAH, resolving 66% of uncertain variants as benign or likely benign.

The paper identifies rare FOXF1 missense variants in PAH patients, shows dysregulated FOXF1 expression in PAH lungs, and identifies downstream targets linked to PAH pathogenesis.

The paper analyzes genotypic and phenotypic data from 173 patients with nano-rare mutations to explore genotype-phenotype relationships and the potential for antisense oligonucleotide therapy.

This study characterizes the clinical and neurobehavioral features of SETBP1 haploinsufficiency disorder and related disorders, identifying shared and distinct phenotypes between the two conditions.

The paper reports clinical phenotypes and longitudinal adaptive function in KIF1A-associated neurological disorder and correlates them with computational predictions of genotype severity.

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

This paper presents an informatic method to identify germline de novo mutations in family trios using consensus across variant callers, achieving high precision and recall.

This study examines differences in polygenic risk score distributions across European populations and shows how country-specific calibration can improve breast cancer risk prediction.

Rare-variant depletion in 1kb windows of 76,156 gnomAD genomes, versus feature-adjusted mutation expectations, marks regulatory elements and outperforms seven alternative scores at flagging functional non-coding variants.

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.