L. Castelnau
Délégation Paris 5(FR)Inserm(FR)Université Paris Cité(FR)Institut Cochin(FR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Lysosomal Storage Disorders Research, Genomics and Rare Diseases, Calcium signaling and nucleotide metabolism, Folate and B Vitamins Research
Most-Cited Works
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium(2007)121 cited
- → Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations(2008)114 cited
- → Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia(2005)110 cited
- → Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia(2007)84 cited
- → A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation(2009)54 cited