Ilham Ratbi

Publications by Year

Research Areas

Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Genomics and Rare Diseases, Congenital heart defects research, Mitochondrial Function and Pathology

Most-Cited Works

• → A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence(2013)178 cited
• → De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development(2017)132 cited
• → Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6(2015)126 cited
• → Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature(2013)104 cited
• → Exome sequencing reveals a novel Moroccan founder mutation inSLC19A3as a new cause of early-childhood fatal Leigh syndrome(2013)94 cited
• → GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability(2016)81 cited
• → Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling(2007)75 cited
• → Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva(2009)40 cited
• → Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1variants in Moroccan population(2014)38 cited
• → Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly(2019)38 cited