Noura S. Abul‐Husn

The paper analyzes the impact of CYP2C19 genotype on SSRI side effects and discontinuation rates in a large sample of individuals.

This study examines the psychological impact of viewing depression polygenic risk scores (PRS) in a real-world setting, finding no significant difference in depression or anxiety symptoms between those who viewed their results and those who did not.

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.

This paper uses a polygenic risk score to identify undiagnosed diabetes cases, finding that combining BMI and PRS captures most undiagnosed cases, including those with normal weight.

The paper identifies a novel risk locus for PAD on 2q35 in Dominicans using admixture mapping and health systems data.

The paper evaluates the impact of GUIA, a digital genetic counseling tool, on understanding of genetic test results in diverse families, finding improved understanding in the intervention group.

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

This study compares the diagnostic yield of genome sequencing and targeted gene panel testing in diverse pediatric patients, finding higher yields with genome sequencing in most groups but not all.

This paper develops a genome-wide polygenic score for chronic kidney disease that incorporates APOL1 risk genotypes and shows consistent performance across four major continental ancestries.

The paper identifies a risk variant for liver disease in Puerto Ricans by integrating EHR and genomic data, showing a dose-dependent association with disease severity.

GenomeDiver improves genomic diagnosis by enabling clinicians to input structured phenotypic data to guide gene prioritization and enhance collaboration with diagnostic labs.

This study links genomic data with EHRs to identify health outcomes enriched in sub-populations, revealing both known and novel associations.

This paper reports on a pilot genomic screening program in a diverse population, finding higher return rates for hATTR results in African/African American and Hispanic/Latinx participants.

GUIA is a web-based platform designed to improve the delivery of genomic results to patients and families, showing positive feedback from pilot users.

The NYCKidSeq project evaluates the clinical utility and communication of genomic testing in diverse children through a randomized controlled trial.

The paper uses exome sequencing and EHR data to find BRCA1/2 pathogenic variants in a diverse biobank population, revealing high prevalence in certain ancestry groups and gaps in knowledge for non-European populations.

The paper identifies a common collagen disease in Puerto Ricans using identity-by-descent mapping and genomic data from a health system.