Marie‐Laure Maurin
Hôpital Necker-Enfants Malades(FR)Assistance Publique – Hôpitaux de Paris(FR)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Fetal and Pediatric Neurological Disorders, Epigenetics and DNA Methylation
Most-Cited Works
- → Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism(2010)81 cited
- → Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20(2010)76 cited
- → Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations(2014)65 cited
- → Statut en vitamine D des enfants de 6 à 10ans : étude nationale multicentrique chez 326 enfants(2014)22 cited
- → A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test(2015)21 cited
- → Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?(2019)17 cited
- → Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q(2007)11 cited
- → Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication(2017)10 cited
- → A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome(2008)9 cited
- → Correlation between ultrasound and pathological examination in a prenatal diagnosis of Cri du Chat syndrome associated with partial trisomy 17q(2008)9 cited