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 Prenatal Screening and Diagnostics.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Author Correction: A structural variation reference for medical and population genetics
A structural variation reference for medical and population genetics
Overexpression of schizophrenia susceptibility factor human complement C4A promotes excessive synaptic loss and behavioral changes in mice
Complement genes contribute sex-biased vulnerability in diverse disorders
Structural Alterations Driving Castration-Resistant Prostate Cancer Revealed by Linked-Read Genome Sequencing
GATK PathSeq: a customizable computational tool for the discovery and identification of microbial sequences in libraries from eukaryotic hosts
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
Gibbon genome and the fast karyotype evolution of small apes