PubRank

Cherif Beldjord

Author PubWeight™ 20.40‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet 2009 3.01
2 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002 2.30
3 GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain 2010 1.30
4 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. Brain 2008 1.26
5 Human disorders of cortical development: from past to present. Eur J Neurosci 2006 1.23
6 Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Brain Res Mol Brain Res 2004 1.19
7 New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain 2013 1.14
8 Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency. J Comp Neurol 2007 1.02
9 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. Eur J Hum Genet 2012 1.00
10 Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. Acta Neuropathol Commun 2014 0.99
11 The location of DCX mutations predicts malformation severity in X-linked lissencephaly. Neurogenetics 2008 0.89
12 Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes. Eur J Hum Genet 2013 0.89
13 Mosaic DCX deletion causes subcortical band heterotopia in males. Neurogenetics 2012 0.85
14 New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression. J Clin Endocrinol Metab 2014 0.78
15 Spectrum of MECP2 mutations in Rett syndrome. Genet Test 2002 0.77
16 Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. Am J Med Genet A 2004 0.77
17 Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem. Hemoglobin 2009 0.76
18 Deletion of filamin A in two female patients with periventricular nodular heterotopia. Am J Med Genet A 2012 0.75
19 A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens. J Trop Pediatr 2004 0.75
20 Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder. Am J Med Genet 2002 0.75
21 Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis. Eur J Med Genet 2012 0.75
22 [Molecular diagnosis of fragile X syndrome]. Tunis Med 2008 0.75
23 CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy Res 2009 0.75
24 Detection of two rare beta-thalassemia alleles found in the Tunisian population: codon 47 (+A) and codons 106/107 (+G). Hemoglobin 2006 0.75