PubRank

Martine Raynaud

Author PubWeight™ 50.42‹?›

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 Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005 3.87
4 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
5 Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res 2008 1.81
6 Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 2004 1.78
7 Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 2007 1.68
8 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet 2006 1.51
9 Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J 2010 1.50
10 Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet 2002 1.45
11 The evolution of infrahissian conduction time in myotonic dystrophy patients: clinical implications. Heart 2011 1.38
12 ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet 2005 1.38
13 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
14 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Hum Mutat 2006 1.26
15 FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet 2002 1.23
16 The incidence of Rett syndrome in France. Pediatr Neurol 2006 1.09
17 Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains. Hum Mutat 2014 1.02
18 In-frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet 2002 1.00
19 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
20 Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. Am J Med Genet A 2013 0.99
21 Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A 2014 0.94
22 A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics 2010 0.91
23 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
24 Mortality in myotonic dystrophy patients in the area of prophylactic pacing devices. Int J Cardiol 2010 0.88
25 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
26 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
27 Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. Am J Med Genet A 2013 0.84
28 Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. Eur J Hum Genet 2006 0.82
29 MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. Am J Med Genet A 2003 0.80
30 Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. Eur J Hum Genet 2013 0.79
31 Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. Am J Med Genet A 2008 0.79
32 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
33 A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. Neurosci Lett 2011 0.78
34 Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. Turk J Pediatr 2011 0.75
35 [When do you implant a pacemaker in myotonic dystrophy?]. Presse Med 2011 0.75