Riyana Babul‐Hirji
University of Toronto(CA)Hospital for Sick Children(CA)SickKids Foundation(CA)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection(2006)670 cited
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data(1999)499 cited
- → Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine(2016)375 cited
- → Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis(1999)346 cited
- → Mutations in EZH2 Cause Weaver Syndrome(2011)304 cited