Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics, Bioinformatics, and Biomedical Research, and Cancer Genomics and Diagnostics.
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study
Hidden biases in germline structural variant detection
<b>Germline Cancer Predisposition Variants in</b> <b>Pediatric Rhabdomyosarcoma: A Report From the Children’s Oncology Group</b>
Phenotypic expansion in <i> <scp>DDX</scp> 3X </i> – a common cause of intellectual disability in females