Dupuis, Lucie

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Butcher, D. T., Cytrynbaum, C., Turinsky, A. L., Siu, M. T., Inbar-Feigenberg, M., Mendoza-Londono, R., Chitayat, D., Walker, S., Machado, J., Caluseriu, O., et al. (2017) · The American Journal of Human Genetics

Congenital Ear and Nasal AnomaliesEpigenetics and DNA Methylation

Cited by 200

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Costain, G., Jobling, R., Walker, S., Reuter, M. S., Snell, M., Bowdin, S., Cohn, R. D., Dupuis, L., Hewson, S., Mercimek-Andrews, S., et al. (2018) · European Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 138

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., et al. (2013) · The American Journal of Human Genetics

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 137