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JAMA|August 19, 2018
Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical TrialValérie Malan, Laurence Bussières, Norbert Winer, et al.
European Journal of Human Genetics : EJHG|October 31, 2002
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literatureLaurence Faivre, Philippe Gosset, Valérie Cormier-Daire, et al.
American Journal of Human Genetics|May 16, 2007
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, et al.
Brain Pathology (Zurich, Switzerland)|July 19, 2018
A clinical and histopathological study of malformations observed in fetuses infected by the Zika virusAurélie Beaufrère, Bettina Bessières, Maryse Bonnière, et al.
European Journal of Human Genetics : EJHG|May 26, 2005
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficultiesDavid Geneviève, Damien Sanlaville, Laurence Faivre, et al.
Human Molecular Genetics|February 11, 2005
Gene expression in pharyngeal arch 1 during human embryonic developmentJuanliang Cai, David Ash, Lori E Kotch, et al.
European Journal of Human Genetics : EJHG|March 3, 2005
Functional disomy of the Xq28 chromosome regionDamien Sanlaville, Marguerite Prieur, Marie-Christine de Blois, et al.
Journal of Medical Genetics|August 4, 2009
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrumDenise P Cavalcanti, Celine Huber, Kim-Hanh Le Quan Sang, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesitySophie Thomas, Vincent Cantagrel, Laura Mariani, et al.
American Journal of Human Genetics|May 11, 2006
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genesCapucine Delnatte, Damien Sanlaville, Jean-Francois Mougenot, et al.
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