Lucie Dupuis
Hospital for Sick Children(CA)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Connective tissue disorders research, Genetic Syndromes and Imprinting
Most-Cited Works
- → Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine(2016)375 cited
- → NSD1 mutations generate a genome-wide DNA methylation signature(2015)208 cited
- → CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions(2017)203 cited
- → Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes(2018)181 cited
- → Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy(2014)180 cited
- → The genetic landscape of familial congenital hydrocephalus(2017)146 cited
- → Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing(2017)145 cited
- → Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC(2015)135 cited
- → Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders(2013)135 cited
- → Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing(2018)131 cited