Mylène Valduga
Virbac (France)(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Most-Cited Works
- → A retrospective study by oligonucleotide array‐CGH analysis in 50 fetuses with multiple malformations(2010)82 cited
- → WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation(2014)79 cited
- → Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1(2014)67 cited
- → Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study(2017)66 cited
- → Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3–q26.12 microdeletion encompassing EMX2(2014)59 cited
- → A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes(2014)59 cited
- → A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH(2015)52 cited
- → Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study(2016)52 cited
- → Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France(2019)43 cited
- → WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period(2015)37 cited