Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genomics and Phylogenetic Studies, and Genetic Associations and Epidemiology.
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Genomic data in the All of Us Research Program
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
A genomic mutational constraint map using variation in 76,156 human genomes
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
Inferring compound heterozygosity from large-scale exome sequencing data
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Author Correction: A structural variation reference for medical and population genetics
The mutational constraint spectrum quantified from variation in 141,456 humans
A structural variation reference for medical and population genetics
Transcript expression-aware annotation improves rare variant interpretation
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
The effect of LRRK2 loss-of-function variants in humans
Landscape of X chromosome inactivation across human tissues
Analysis of protein-coding genetic variation in 60,706 humans
Analysis of protein-coding genetic variation in 60,706 humans
Metabolite Profiling and Classification of DNA-Authenticated Licorice Botanicals