Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, and Genomics and Phylogenetic Studies.
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
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Defining a tandem repeat catalog and variation clusters for genome-wide analyses
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Improving prenatal diagnosis through standards and aggregation.
A genomic mutational constraint map using variation in 76,156 human genomes
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
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
Genome‐Wide Analysis of Structural Variants in Parkinson Disease
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
A cross-disorder dosage sensitivity map of the human genome
GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
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