PubRank

Ludwine Messiaen

Author PubWeight™ 62.24‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. Cancer Cell 2009 2.73
2 Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 2007 2.55
3 Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet 2006 2.11
4 NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome. Cell 2010 1.81
5 Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. Am J Med Genet A 2013 1.72
6 FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet 2003 1.70
7 Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet 2006 1.68
8 Elucidating distinct roles for NF1 in melanomagenesis. Cancer Discov 2012 1.53
9 Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes. J Invest Dermatol 2006 1.53
10 Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. Hum Mutat 2004 1.35
11 Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet 2007 1.33
12 Comprehensive NF1 screening on cultured Schwann cells from neurofibromas. Hum Mutat 2006 1.29
13 Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer 2003 1.26
14 Bax expression is a candidate prognostic and predictive marker of colorectal cancer. J Gastrointest Oncol 2010 1.24
15 The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion. PLoS Genet 2011 1.23
16 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A 2005 1.19
17 Review and update of SPRED1 mutations causing Legius syndrome. Hum Mutat 2012 1.13
18 The development of cutaneous neurofibromas. Am J Pathol 2011 1.04
19 Pigment cell-related manifestations in neurofibromatosis type 1: an overview. Pigment Cell Res 2005 1.01
20 Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. Cancer Res 2009 1.01
21 Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene. Oncogene 2002 0.99
22 Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients. Genes Chromosomes Cancer 2006 0.97
23 Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2. Cancer Res 2002 0.96
24 Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes. J Invest Dermatol 2007 0.96
25 Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction. Genet Test Mol Biomarkers 2010 0.94
26 Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis type 2. J Neurosurg 2010 0.94
27 Complex splicing pattern generates great diversity in human NF1 transcripts. BMC Genomics 2002 0.91
28 The human FOXL2 mutation database. Hum Mutat 2004 0.91
29 Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression. Bone 2008 0.90
30 Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? Arch Dermatol Res 2006 0.90
31 Quantification of NF1 transcripts reveals novel highly expressed splice variants. FEBS Lett 2002 0.89
32 An interstitial deletion of chromosome 7 at band q21: a case report and review. Am J Med Genet A 2005 0.87
33 Neurofibromin binds to caveolin-1 and regulates ras, FAK, and Akt. Biochem Biophys Res Commun 2006 0.87
34 Genetic and clinical mosaicism in a patient with neurofibromatosis type 1. Hum Genet 2003 0.87
35 A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene. Eur J Hum Genet 2002 0.85
36 Real-time quantitative allele discrimination assay using 3' locked nucleic acid primers for detection of low-percentage mosaic mutations. Anal Biochem 2006 0.85
37 Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2). Am J Med Genet A 2006 0.84
38 Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR. Am J Med Genet A 2011 0.84
39 Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event. Hum Mutat 2010 0.83
40 Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. Ophthalmic Genet 2008 0.83
41 Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting. Acta Neuropathol 2011 0.83
42 SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. Genome Biol 2014 0.82
43 Phenotypic variability among café-au-lait macules in neurofibromatosis type 1. J Am Acad Dermatol 2010 0.82
44 Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL. Genes Chromosomes Cancer 2012 0.82
45 Neurofibromin is actively transported to the nucleus. FEBS Lett 2004 0.82
46 Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion. Am J Med Genet 2002 0.81
47 Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma. Front Biosci 2008 0.81
48 Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene. Hum Mutat 2014 0.80
49 Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. Eur J Hum Genet 2012 0.79
50 Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome. Eur J Hum Genet 2005 0.79
51 Update from the 2013 International Neurofibromatosis Conference. Am J Med Genet A 2014 0.78
52 Prognostic significance and gene expression profiles of p53 mutations in microsatellite-stable stage III colorectal adenocarcinomas. PLoS One 2012 0.77
53 Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions. Hum Mutat 2014 0.77
54 Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination. Hum Mutat 2013 0.77
55 Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. Hum Mutat 2011 0.77
56 Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. Hum Mutat 2012 0.76
57 Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors. Cancer Genet Cytogenet 2003 0.76
58 Error in a study of the clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA 2010 0.75
59 Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply. Hum Genet 2003 0.75
60 Hypomagnesemia due to two novel TRPM6 mutations. J Pediatr Endocrinol Metab 2015 0.75
61 Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1. Dermatology 2004 0.75