PubRank

Anne Moncla

Author PubWeight™ 28.63‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci 2005 2.20
2 Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: evidence by microarray CGH. Am J Med Genet A 2004 1.45
3 PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase. J Cell Sci 2006 1.30
4 Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. Hum Mol Genet 2007 1.25
5 Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome. Eur J Neurosci 2007 1.23
6 Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet 2010 1.21
7 Deleterious mutations in exon 1 of MECP2 in Rett syndrome. Eur J Med Genet 2005 1.17
8 Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations. Eur J Hum Genet 2007 1.09
9 The incidence of Rett syndrome in France. Pediatr Neurol 2006 1.09
10 Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eur J Hum Genet 2010 1.08
11 Defective B-cell-negative selection and terminal differentiation in the ICF syndrome. Blood 2003 1.05
12 Extended spectrum of MBD5 mutations in neurodevelopmental disorders. Eur J Hum Genet 2013 1.03
13 SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. Eur J Hum Genet 2009 1.01
14 The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. J Med Genet 2012 0.98
15 Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. J Med Genet 2009 0.97
16 Truncation of NHEJ1 in a patient with polymicrogyria. Hum Mutat 2007 0.97
17 TCF4 deletions in Pitt-Hopkins Syndrome. Hum Mutat 2008 0.96
18 Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. Hum Mutat 2012 0.88
19 Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A 2012 0.85
20 Macrophage activation syndrome mimicking life-threatening infection in a patient with variable immunodeficiency, centromeric instability, and facial anomalies. Pediatrics 2004 0.84
21 Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes. Eur J Med Genet 2007 0.83
22 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. J Med Genet 2010 0.83
23 The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. J Med Genet 2011 0.83
24 Subcellular distribution of HP1 proteins is altered in ICF syndrome. Eur J Hum Genet 2005 0.83
25 Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. Eur J Hum Genet 2012 0.82
26 Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins. Eur J Med Genet 2013 0.79
27 Clinical and molecular spectrum of renal malformations in Kabuki syndrome. J Pediatr 2013 0.78
28 Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. Am J Med Genet A 2012 0.77
29 Whole ARX gene duplication is compatible with normal intellectual development. Am J Med Genet A 2014 0.75
30 Finger creases lend a hand in Kabuki syndrome. Eur J Med Genet 2013 0.75