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 CRISPR and Genetic Engineering.
Deleterious coding variation associated with autism is shared across ancestries
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
A genomic mutational constraint map using variation in 76,156 human genomes
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Genome‐Wide Analysis of Structural Variants in Parkinson Disease
Inferring compound heterozygosity from large-scale exome sequencing data
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
A cross-disorder dosage sensitivity map of the human genome
Genome-wide enhancer maps link risk variants to disease genes
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
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
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
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
Functional annotation of rare structural variation in the human brain
Genome-wide maps of enhancer regulation connect risk variants to disease genes
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction
Human-specific tandem repeat expansion and differential gene expression during primate evolution
Primary cilia defects causing mitral valve prolapse