Sylvie Langlois
University of British Columbia(CA)Centre Hospitalier Universitaire Sainte-Justine(CA)BC Children's Hospital(CA)McGill University(CA)Université de Montréal(CA)University of California, Berkeley(US)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Genetic Syndromes and Imprinting, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases
Most-Cited Works
- → Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation(2006)326 cited
- → Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway(2014)236 cited
- Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.(1997)
- → Parental origin of triploidy in human fetuses: evidence for genomic imprinting(1993)197 cited
- Uniparental disomy for chromosome 16 in humans.(1993)
- → Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome(2011)171 cited
- → Treatment of Familial Hypercholesterolemia in Children and Adolescents: Effect of Lovastatin(1996)159 cited