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Cytogenetic and Genome Research|January 7, 2016
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic TestValérie Malan, Jean-Michel Lapierre, Matthieu Egloff, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|December 15, 2015
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformationCaroline Alby, Valérie Malan, Lucile Boutaud, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 3, 2008
Refinement of 2q and 7p loci in a large multiplex NTD familyDemetra S Stamm, Deborah G Siegel, Lorraine Mehltretter, et al.
Nature Genetics|September 6, 2011
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humansLoïc de Pontual, Evelyn Yao, Patrick Callier, et al.
European Journal of Human Genetics : EJHG|January 13, 2011
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresiaMarie Cognet, Agnés Nougayrede, Valérie Malan, et al.
Human Molecular Genetics|October 9, 2003
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)Loïc de Pontual, Virginie Népote, Tania Attié-Bitach, et al.
American Journal of Medical Genetics. Part A|January 20, 2007
Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2Jelena Martinovic-Bouriel, Céline Bernabé-Dupont, Christelle Golzio, et al.
Journal of Medical Genetics|September 1, 2010
BBS10 mutations are common in 'Meckel'-type cystic kidneysAudrey Putoux, Soumaya Mougou-Zerelli, Sophie Thomas, et al.
Human Mutation|October 6, 2011
Germline gain-of-function mutations of ALK disrupt central nervous system developmentLoïc de Pontual, Dania Kettaneh, Christopher T Gordon, et al.
American Journal of Human Genetics|August 3, 2010
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndromeValérie Malan, Diana Rajan, Sophie Thomas, et al.
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