Nathalie Le Meur
Centre National de la Recherche Scientifique(FR)Inserm(FR)École des Hautes Études en Santé Publique(FR)Université de Rennes(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy(2005)1,241 cited
- → MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations(2009)220 cited
- → 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients(2015)121 cited
- → 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations(2018)93 cited
- → Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability(2004)68 cited
- → A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes