PubRank

Jamel Chelly

Author PubWeight™ 168.26‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 2009 8.30
2 X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 2004 5.15
3 Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell 2007 3.06
4 Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet 2009 3.01
5 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet 2004 2.99
6 Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat 2009 2.93
7 Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized. Nat Rev Genet 2006 2.42
8 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
9 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat 2007 2.24
10 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet 2013 2.06
11 Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet 2010 1.87
12 Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet 2010 1.83
13 Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet 2008 1.80
14 Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat 2008 1.78
15 Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 2007 1.68
16 Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects. Trends Genet 2009 1.66
17 Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet 2003 1.61
18 Key clinical features to identify girls with CDKL5 mutations. Brain 2008 1.59
19 Mechanism of microtubule stabilization by doublecortin. Mol Cell 2004 1.52
20 Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet 2003 1.52
21 Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J 2010 1.50
22 Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes. PLoS Genet 2013 1.50
23 Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity. J Neurosci 2007 1.48
24 Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet 2002 1.45
25 Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice. Hum Mol Genet 2006 1.44
26 Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep 2012 1.43
27 ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet 2005 1.38
28 Doublecortin functions at the extremities of growing neuronal processes. Cereb Cortex 2003 1.38
29 Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS One 2009 1.36
30 Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet 2008 1.34
31 Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat 2007 1.31
32 Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends Genet 2003 1.30
33 GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain 2010 1.30
34 Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Am J Hum Genet 2004 1.29
35 Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis. J Neurosci 2008 1.28
36 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Hum Mutat 2006 1.26
37 Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet 2004 1.26
38 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. Brain 2008 1.26
39 Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc Natl Acad Sci U S A 2012 1.26
40 Human disorders of cortical development: from past to present. Eur J Neurosci 2006 1.23
41 FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet 2002 1.23
42 Differentially activated macrophages orchestrate myogenic precursor cell fate during human skeletal muscle regeneration. Stem Cells 2013 1.22
43 IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Hum Mol Genet 2003 1.19
44 Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Brain Res Mol Brain Res 2004 1.19
45 Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet 2008 1.17
46 Distinct roles of doublecortin modulating the microtubule cytoskeleton. EMBO J 2006 1.16
47 New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain 2013 1.14
48 Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 2009 1.13
49 Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet 2009 1.13
50 Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation. Hum Mol Genet 2009 1.12
51 A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB. Mol Biol Cell 2008 1.12
52 A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation. Curr Biol 2010 1.11
53 The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain. Mol Cell Neurosci 2003 1.10
54 Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet 2005 1.10
55 The incidence of Rett syndrome in France. Pediatr Neurol 2006 1.09
56 X-linked mental retardation: focus on synaptic function and plasticity. J Neurochem 2009 1.08
57 Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway. Hum Mol Genet 2010 1.06
58 A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. Neurogenetics 2009 1.04
59 IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation. Proc Natl Acad Sci U S A 2007 1.03
60 Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol 2012 1.03
61 Active caspase-8 translocates into the nucleus of apoptotic cells to inactivate poly(ADP-ribose) polymerase-2. J Biol Chem 2002 1.02
62 The role of ARX in cortical development. Eur J Neurosci 2006 1.02
63 Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency. J Comp Neurol 2007 1.02
64 LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Arch Neurol 2009 1.02
65 A FOXG1 mutation in a boy with congenital variant of Rett syndrome. Neurogenetics 2010 1.01
66 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. Eur J Hum Genet 2012 1.00
67 Loss of parental-specific methylation at the IGF2 locus in human hepatocellular carcinoma. J Pathol 2003 1.00
68 In-frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet 2002 1.00
69 MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur J Hum Genet 2008 1.00
70 Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. Acta Neuropathol Commun 2014 0.99
71 A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα. Nat Neurosci 2011 0.97
72 Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. Neuromuscul Disord 2009 0.97
73 Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. Am J Med Genet A 2008 0.97
74 Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes. Mol Cell Neurosci 2005 0.97
75 Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus. PLoS One 2008 0.96
76 In vitro follicular growth affects oocyte imprinting establishment in mice. Eur J Hum Genet 2003 0.95
77 Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation. J Physiol 2011 0.94
78 Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions. PLoS One 2008 0.94
79 A shape analysis framework for neuromorphometry. Network 2002 0.94
80 Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. Hum Genet 2007 0.93
81 A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. Hum Mutat 2010 0.93
82 Refining the phenotype associated with MEF2C point mutations. Neurogenetics 2012 0.93
83 ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet A 2011 0.92
84 Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. Acta Neuropathol 2010 0.92
85 Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathway. Philos Trans R Soc Lond B Biol Sci 2013 0.92
86 A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics 2010 0.91
87 Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy. Epilepsy Res 2008 0.90
88 The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform. Neurogenetics 2008 0.89
89 Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. Am J Med Genet A 2003 0.89
90 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
91 The location of DCX mutations predicts malformation severity in X-linked lissencephaly. Neurogenetics 2008 0.89
92 Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. Neurogenetics 2013 0.89
93 A new model of experimental fibrosis in hindlimb skeletal muscle of adult mdx mouse mimicking muscular dystrophy. Muscle Nerve 2012 0.89
94 Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene. Am J Med Genet A 2004 0.89
95 X-linked congenital ataxia: a new locus maps to Xq25-q27.1. Am J Med Genet A 2008 0.87
96 Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet 2011 0.87
97 Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown. Hum Mol Genet 2013 0.87
98 The ARX mutations: a frequent cause of X-linked mental retardation. Am J Med Genet A 2006 0.87
99 Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. Am J Med Genet A 2010 0.86
100 A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. Eur J Hum Genet 2008 0.86
101 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet 2013 0.85
102 Mosaic DCX deletion causes subcortical band heterotopia in males. Neurogenetics 2012 0.85
103 Calpain 10 and development of diabetes mellitus in cystic fibrosis. J Cyst Fibros 2005 0.84
104 Alternative transcripts of Dclk1 and Dclk2 and their expression in doublecortin knockout mice. Dev Neurosci 2008 0.84
105 Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability. BMC Med Genet 2011 0.84
106 Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. Am J Med Genet B Neuropsychiatr Genet 2010 0.84
107 IL1RAPL1 controls inhibitory networks during cerebellar development in mice. Eur J Neurosci 2009 0.83
108 Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation. Eur J Hum Genet 2006 0.83
109 Synaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndrome. PLoS One 2010 0.83
110 Altered microtubule dynamics in Mecp2-deficient astrocytes. J Neurosci Res 2012 0.83
111 From fragile X mental retardation protein to Rac1 GTPase: new insights from Fly CYFIP. Neuron 2003 0.83
112 Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4. Brain 2011 0.83
113 An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain. J Hum Genet 2010 0.82
114 Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database. Orphanet J Rare Dis 2012 0.82
115 A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. J Med Genet 2013 0.82
116 MeCP2 deficiency is associated with impaired microtubule stability. FEBS Lett 2012 0.82
117 TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment. Am J Med Genet 2002 0.82
118 Variants in CUL4B are associated with cerebral malformations. Hum Mutat 2015 0.82
119 X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. Eur J Hum Genet 2006 0.81
120 Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy. J Mol Med (Berl) 2010 0.81
121 Liver insulin-like growth factor 2 methylation in hepatitis C virus cirrhosis and further occurrence of hepatocellular carcinoma. World J Gastroenterol 2008 0.81
122 Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome. Eur J Hum Genet 2009 0.80
123 Target-specific vulnerability of excitatory synapses leads to deficits in associative memory in a model of intellectual disorder. J Neurosci 2013 0.80
124 A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33. Am J Med Genet A 2003 0.80
125 MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. Am J Med Genet A 2003 0.80
126 Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency. Eur J Med Genet 2008 0.80
127 Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. Neuromuscul Disord 2004 0.79
128 Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. Eur J Hum Genet 2013 0.79
129 Neuronal JNK pathway activation by IL-1 is mediated through IL1RAPL1, a protein required for development of cognitive functions. Commun Integr Biol 2010 0.78
130 Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J 2010 0.78
131 Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation. Am J Med Genet A 2007 0.77
132 Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. Eur J Med Genet 2007 0.77
133 A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation. Eur J Med Genet 2011 0.77
134 A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders. J Mol Diagn 2009 0.77
135 Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy. Pediatr Neurol 2007 0.77
136 Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males. Eur J Hum Genet 2005 0.77
137 Spectrum of MECP2 mutations in Rett syndrome. Genet Test 2002 0.77
138 The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia. Orphanet J Rare Dis 2014 0.77
139 Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Am J Med Genet A 2010 0.77
140 Expanding the clinical phenotype of patients with a ZDHHC9 mutation. Am J Med Genet A 2013 0.76
141 X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. Eur J Med Genet 2005 0.76
142 Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes. PLoS Genet 2015 0.75
143 [Effective exon skipping in humans: a symbolic but promising jump into DMD therapy]. Med Sci (Paris) 2008 0.75
144 Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis. Eur J Med Genet 2012 0.75
145 Insulin-like growth factor 2 gene methylation in peripheral blood mononuclear cells of patients with hepatitis C related cirrhosis or hepatocellular carcinoma. Clin Res Hepatol Gastroenterol 2012 0.75
146 [X-linked mental retardation]. Med Sci (Paris) 2005 0.75
147 Pitfalls of the morphologic approach. J Neuropathol Exp Neurol 2006 0.75
148 CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy Res 2009 0.75
149 Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder. Am J Med Genet 2002 0.75