Marc S. Williams

This study explores how sociocultural and structural factors influence cardiovascular genetic testing practices among cardiologists.

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

This study evaluates genetic testing outcomes for kidney disease, finding 34% of patients had pathogenic variants, 52% had variants of uncertain significance (VUS), and multidisciplinary review with biobank data helped reclassify some VUS.

The paper investigates the phenotypic effects of ELN gene variants using exome data and phenotyping, finding associations with connective tissue disorders beyond known conditions.

This paper identifies causal chains affecting Lynch syndrome tumor screening implementation across healthcare systems using coincidence analysis of stakeholder interviews.

This study identifies informatics opportunities to improve genetic diagnosis of kidney disorders by understanding nephrologists' needs and barriers through interviews and service blueprints.

This paper reviews CDS tools for genetically guided precision medicine, finding limited use of standards-based genomic data transfer and inconsistent evaluation methods.

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

This study uses EHR data to identify gene-phenotype associations and develop phenotype risk scores for variant interpretation in hereditary cancer genes.

This study identifies genetic clusters associated with PCOS subtypes and finds causal links between BMI, SHBG, and PCOS.

This paper identifies novel genetic variants associated with PCOS using EHR-based GWAS and validates them in independent cohorts.

This study investigates the association between GSTM1 copy number and kidney failure risk in a large cohort, finding no significant association after adjustments.

The paper compares two new Lynch syndrome screening protocols with an IHC-based protocol in endometrial cancer patients, finding the brief family history questionnaire and direct-to-sequencing methods more effective and cost-effective.

The paper describes a model for returning secondary genomic findings to participants and healthcare providers in a large research cohort, with 93% successful contact rates and 222 providers notified.