Sylvie Manouvrier
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genetic factors in colorectal cancer, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor(2006)1,629 cited
- → Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy(1999)375 cited
- → Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans(2011)306 cited
- → Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)(2007)231 cited
- → Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer(2005)202 cited
- → Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens(1990)200 cited
- → Treacher Collins syndrome: a clinical and molecular study based on a large series of patients(2015)160 cited
- → The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity(2008)129 cited
- → New insights into genotype–phenotype correlation for GLI3 mutations(2014)121 cited
- → BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects(2009)108 cited