Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Riyana Babul‐Hirji | Researchclopedia

Back to researchers

Riyana Babul‐Hirji

University of Toronto

53

Works

4,162

Citations

22

h-index

32

i10-index

Research Topics

Prenatal Screening and Diagnostics Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

Affiliations

Toronto Public Health2000–2000

University of Toronto1999–2025

Great Ormond Street Hospital2024–2024

Hospital for Sick Children1997–2025

Toronto General Hospital1998–1998

Top Works

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick J. Crow,Andrea Leitch,et al.

2006670 citations

BRCA gene mutations in cancer

Genomic variations and chromosomal abnormalities

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow,Diana Chase,et al.

2015602 citations

Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data

Diane Allingham‐Hawkins,Riyana Babul‐Hirji,et al.

1999499 citations

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos,Daniele Merico,et al.

2016375 citations

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Yaoqin Gong,Deborah Krakow,et al.

1999346 citations

Mutations in EZH2 Cause Weaver Syndrome

William T. Gibson,Rebecca L. Hood,et al.

2011304 citations

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson,Paul R. Kasher,et al.

2012287 citations

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

Karen Buysse,Moniek Riemersma,et al.

2013141 citations

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

Hiroyuki Takai,Emma M. Jenkinson,et al.

2016105 citations