Ratbi, Ilham

Top Publications

Top Publications Authored or Co-Authored by "Ratbi, Ilham"

• 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
• Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

  American Journal of Human Genetics, Volume 97, No. 4, Year 2015, Citations 101
• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

  Nature Genetics, Volume 49, No. 2, Year 2017, Citations 89
• Phenotypic spectrum of simpson-golabi-behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Volume 163, No. 2, Year 2013, Citations 76
• Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

  Brain, Volume 136, No. 3, Year 2013, Citations 71