Villard, Laurent

Top Publications

Top Publications Authored or Co-Authored by "Villard, Laurent"

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

  Brain, Volume 140, No. 5, Year 2017, Citations 390
• BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

  European Journal of Human Genetics, Volume 31, No. 9, Year 2023, Citations 90
• Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

  Human Genetics, Volume 137, No. 9, Year 2018, Citations 45
• 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 genes

  American Journal of Medical Genetics, Part A, Volume 164, No. 8, Year 2014, Citations 28
• Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

  Human Genetics, Volume 106, No. 1, Year 2000, Citations 15