Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, and Autism Spectrum Disorder Research.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations
Recent ultra-rare inherited variants implicate new autism candidate risk genes
A family study implicates <i>GBE1</i> in the etiology of autism spectrum disorder
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.
Recent ultra-rare inherited mutations identify novel autism candidate risk genes
Rare and <i>de novo</i> duplications containing <i>SHOX</i> in clubfoot.
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders
The novel lncRNA <i>lnc-NR2F1</i> is pro-neurogenic and mutated in human neurodevelopmental disorders.
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
Integrative Genomic Analyses Identifies GGA2 as a Cooperative Driver of EGFR-Mediated Lung Tumorigenesis.
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Genomic Patterns of De Novo Mutation in Simplex Autism
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
De novo genic mutations among a Chinese autism spectrum disorder cohort