Area of research
Genetics · Cancer Research
Research interest
Research interests include Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Genomic variations and chromosomal abnormalities, and Genetic Associations and Epidemiology.
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
Predicting expression-altering promoter mutations with deep learning
Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Mondo: integrating disease terminology across communities
GREGoR: accelerating genomics for rare diseases
Genomic data in the All of Us Research Program
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Genetic testing in early-onset atrial fibrillation
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
The landscape of tolerated genetic variation in humans and primates
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Rare penetrant mutations confer severe risk of common diseases
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
Rare penetrant mutations confer severe risk of common diseases
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
Best practices for the interpretation and reporting of clinical whole genome sequencing
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change