Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, and BRCA gene mutations in cancer.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia
An Organismal CNV Mutator Phenotype Restricted to Early Human Development
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Somatic mosaicism: implications for disease and transmission genetics
Mus81 and converging forks limit the mutagenicity of replication fork breakage
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3
Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination
Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics
Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A