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Human Molecular Genetics|December 21, 2023
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disabilityElham Khosrowabadi, Cécile Mignon-Ravix, Florence Riccardi, et al.
Human Mutation|April 18, 2018
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burstCécile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, et al.
Human Mutation|March 26, 2013
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancyMathieu Milh, Antonio Falace, Nathalie Villeneuve, et al.
Human Mutation|August 7, 2007
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotypeAnne Moncla, Chantal Missirian, Pierre Cacciagli, et al.
American Journal of Medical Genetics. Part A|May 13, 2014
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genesCécile Mignon-Ravix, Pierre Cacciagli, Nancy Choucair, et al.
Molecular Cytogenetics|April 30, 2015
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patientsNancy Choucair, Joelle Abou Ghoch, Sandra Corbani, et al.
American Journal of Medical Genetics. Part A|May 12, 2015
Variable clinical expression in patients with mosaicism for KCNQ2 mutationsMathieu Milh, Caroline Lacoste, Pierre Cacciagli, et al.
Epilepsia|July 21, 2011
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutationsMathieu Milh, Nathalie Villeneuve, Mondher Chouchane, et al.
European Journal of Human Genetics : EJHG|December 1, 2017
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disabilityJérémie Mortreux, Tiffany Busa, Dominique P Germain, et al.
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