Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Congenital heart defects research, Chromosomal and Genetic Variations, and Genomics and Rare Diseases.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions