• 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
• A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France
• Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
• Body proportions in patients with Turner syndrome on growth hormone treatment
• Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study
• Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
• Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome
• Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
• Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
• Growth charts in Kabuki syndrome 1
• Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
• Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability
• MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France
• MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France
• Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
• Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
• WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion