Nathalie Le Meur

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Anne Rovelet‐Lecrux, Didier Hannequin, Grégory Raux et al. · Nature Genetics · 2005 · 1.2K citations

Alzheimer's Disease, Cerebral Amyloid Angiopathy, Dementia +9

<i>MEF2C</i> 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

Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard et al. · Journal of Medical Genetics · 2009 · 220 citations · Full text

15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

Clémence Vanlerberghe, Florence Petit, Valérie Malan et al. · European Journal of Medical Genetics · 2015 · 120 citations

Cardiovascular Disease, Behaviour Issues, Pediatric Heart Disease +9

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Laïla El Khattabi, Solveig Heide, Jean‐Hubert Caberg et al. · Journal of Medical Genetics · 2018 · 93 citations

Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability

Audrey Killian, Nathalie Le Meur, Richard Sesboüé et al. · Oncogene · 2004 · 68 citations

Chromatin, Genome Instability, Rrb1-pescadillo Pathway +5