Marta Szybowska
University Health Network(CA)Princess Margaret Cancer Centre(CA)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Cancer, Hypoxia, and Metabolism, RNA modifications and cancer, Peroxisome Proliferator-Activated Receptors, Genomics and Rare Diseases
Most-Cited Works
- → Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling(2014)586 cited
- → Reappraisal of Reported Genes for Sudden Arrhythmic Death(2018)363 cited
- → Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation(2013)129 cited
- → De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism(2020)108 cited
- → The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes(2013)104 cited
- → Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome(2018)73 cited
- → Mechanotransduction of Extracellular Signal-Regulated Kinases 1 and 2 Mitogen-Activated Protein Kinase Activity in Smooth Muscle Is Dependent on the Extracellular Matrix and Regulated by Matrix Metalloproteinases(2006)52 cited
- → Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome(2017)41 cited
- → Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study(2020)32 cited
- → Assessing the Informational Needs of Adolescents with a Genetic Condition: What Do They Want to Know?(2007)31 cited