S. Blesson

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar et al. · Molecular Psychiatry · 2009 · 143 citations · Full text

Neurodevelopmental Disorders, Molecular Neuroscience, Developmental Biology +13

Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancy

Jean Louis Gilardi, F. Perrotin, C. Paillet et al. · Prenatal Diagnosis · 2002 · 73 citations

Fetal phenotypes in otopalatodigital spectrum disorders

Sophie Naudion, Sébastien Moutton, Isabelle Coupry et al. · Clinical Genetics · 2015 · 22 citations

Opd Syndromes, Genetics, Fetal Medicine +17

Twenty-five novel mutations including duplications in the ATP7A gene

MP Moizard, Nathalie Ronce, S. Blesson et al. · Clinical Genetics · 2010 · 19 citations

Atp7a Gene, Mendelian Disorder, Point Mutations +13

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

Mathilde Lefebvre, Damien Sanlaville, Nathalie Marle et al. · Clinical Genetics · 2015 · 14 citations · Full text

Family Medicine, Counseling, Genetic Testing +20