Cheryl Cytrynbaum
University of Toronto(CA)Rambam Health Care Campus(IL)Hospital for Sick Children(CA)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Epigenetics and DNA Methylation, Congenital heart defects research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Functional impact of global rare copy number variation in autism spectrum disorders(2010)2,041 cited
- → Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder(2017)926 cited
- → De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes(2012)745 cited
- → Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test(2017)558 cited
- → Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine(2016)375 cited
- → Practical guidelines for managing adults with 22q11.2 deletion syndrome(2015)313 cited