Des-Portes, Vincent

Top Publications

Top Publications Authored or Co-Authored by "Des-Portes, Vincent"

• A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

  Nature Genetics, Volume 24, No. 2, Year 2000, Citations 247
• Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

  Clinical Genetics, Volume 89, No. 2, Year 2016, Citations 76
• West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

  European Journal of Human Genetics, Volume 24, No. 7, Year 2016, Citations 16
• A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11

  Annales de Genetique, Volume 41, No. 1, Year 1998, Citations 11
• Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)

  American Journal of Medical Genetics, Volume 85, No. 3, Year 1999, Citations 9