Sefiani, Abdelaziz

Top Publications

Top Publications Authored or Co-Authored by "Sefiani, Abdelaziz"

• 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
• Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity

  Nature Genetics, Volume 10, No. 2, Year 1995, Citations 197
• Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

  Nature Genetics, Volume 39, No. 4, Year 2007, Citations 196
• A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence

  Journal of the American College of Cardiology, Volume 63, No. 3, Year 2014, Citations 163
• Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

  Nature Genetics, Volume 35, No. 4, Year 2003, Citations 160