Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetic Associations and Epidemiology, Genomics and Rare Diseases, Genomics and Phylogenetic Studies, and RNA and protein synthesis mechanisms.
Deciphering the impact of genomic variation on function
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes
The landscape of tolerated genetic variation in humans and primates
A cross-disorder dosage sensitivity map of the human genome
The Parkinson’s disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability
Enrichment of somatic mutations in schizophrenia brain targets prenatally active transcription factor bindings sites
Population-specific causal disease effect sizes in functionally important regions impacted by selection
Population sequencing data reveal a compendium of mutational processes in the human germ line
Identification of cancer driver genes based on nucleotide context
Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies
GWAS for quantitative resistance phenotypes in Mycobacterium tuberculosis reveals resistance genes and regulatory regions
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer
Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep
Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study
Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans
Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types
Estimating the selective effects of heterozygous protein-truncating variants from human exome data
Multiethnic Meta-Analysis Identifies <i>RAI1</i> as a Possible Obstructive Sleep Apnea–related Quantitative Trait Locus in Men
Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
Variants in angiopoietin-2 (<i>ANGPT2</i>) contribute to variation in nocturnal oxyhaemoglobin saturation level
Integrative analysis of 111 reference human epigenomes
Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders
Cell-of-origin chromatin organization shapes the mutational landscape of cancer
Genome-wide patterns and properties of de novo mutations in humans
No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans
Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases
Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck