Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Hemoglobinopathies and Related Disorders, Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, and Genomics and Rare Diseases.
Insights into genetics, human biology and disease gleaned from family based genomic studies
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene