Area of research
Genetics
Research interest
Research interests include Genetic Associations and Epidemiology, Genomics and Rare Diseases, Inflammatory Bowel Disease, and Genomic variations and chromosomal abnormalities.
Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes
Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases
Resolving inflammatory bowel disease risk variants to genes and cell types
Deleterious coding variation associated with autism is shared across ancestries
Modeling rare coding variation on chromosome X provides insight into the genetics and differential sex prevalence of autism spectrum disorder
Exome sequencing directly implicates 68 genes in inflammatory bowel disease
Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma
Improved allele frequencies in gnomAD through local ancestry inference
Genetics and context for precision health in Greater Boston
Population-scale multiome immune cell atlas reveals complex disease drivers
Genetics and context for precision health in Greater Boston
Loss of CFHR5 function reduces the risk for age-related macular degeneration
Proteomic prediction of disease largely reflects environmental risk exposure
Rare genetic variants confer a high risk of ADHD and implicate neuronal biology
Characterization of the functional and clinical impacts of
<i>CACNA1A</i>
missense variants found in neurodevelopmental disorders
Global multi-ancestry genetic study elucidates genes and biological pathways associated with thyroid cancer and benign thyroid diseases
Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank
Autoimmune disease risk gene ANKRD55 promotes TH17 effector function through metabolic modulation
Cost-effective non-additive GWAS across 2329 diseases in 500,349 individuals
Autoimmune disease risk gene ANKRD55 promotes TH17 effector function through metabolic modulation
Genetics-to-structure multiscale analysis identifies disrupted calcium homeostasis as a mechanism of psychiatric disease
Genome-wide association study of proteomic aging reveals shared genetic architectures with longevity, early life development, and age-related diseases
Analysis of Variants Induced by Combined Ex Vivo Irradiation and In Vivo Tumorigenesis Suggests a Role for the ZNF831 p.R1393Q Variant in Cutaneous Melanoma Development
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases
The
<i>9p21.3</i>
Coronary Artery Disease Risk Locus Modulates Vascular Cell-State Transitions via Enhancer-Driven Regulation of
<i>MTAP</i>
Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish
Proteomic aging clock predicts mortality and risk of common age-related diseases in diverse populations