Published in Eur J Hum Genet on July 30, 2014
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. Hum Genet (2016) 0.86
NF1 single and multi-exons copy number variations in neurofibromatosis type 1. J Hum Genet (2015) 0.83
Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells. Oncotarget (2016) 0.79
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. Int J Mol Med (2016) 0.79
Exome sequencing identifies recurrent BCOR gene alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma. Haematologica (2017) 0.76
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. Orphanet J Rare Dis (2016) 0.76
Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine. Oncotarget (2016) 0.75
Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities. Orphanet J Rare Dis (2016) 0.75
Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View. EBioMedicine (2016) 0.75
Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene. Genes (Basel) (2016) 0.75
Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants. Balkan J Med Genet (2017) 0.75
Mutational landscape and significance across 12 major cancer types. Nature (2013) 14.91
Performance comparison of benchtop high-throughput sequencing platforms. Nat Biotechnol (2012) 8.99
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Emerging landscape of oncogenic signatures across human cancers. Nat Genet (2013) 6.48
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet (2006) 4.23
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat (2000) 3.87
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet (2000) 3.06
An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet (1993) 2.79
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA (2009) 2.72
A genomic view of mosaicism and human disease. Nat Rev Genet (2013) 2.67
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet (2007) 2.55
A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition. Cancer Discov (2013) 2.49
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol (2009) 2.32
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23
The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology (2001) 1.82
A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet (2010) 1.70
Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology (2005) 1.65
Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet (2003) 1.62
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet (2003) 1.59
Elucidating distinct roles for NF1 in melanomagenesis. Cancer Discov (2012) 1.53
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1. J Med Genet (2005) 1.45
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer (2006) 1.41
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Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet (2007) 1.33
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet (2009) 1.32
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. Hum Mutat (2008) 1.30
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet (2009) 1.28
Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum Mutat (2008) 1.25
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet (2010) 1.23
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet (2009) 1.21
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat (2013) 1.17
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. J Med Genet (2003) 1.15
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat (2011) 1.14
Review and update of SPRED1 mutations causing Legius syndrome. Hum Mutat (2012) 1.13
Neurofibromatosis type 1: from genotype to phenotype. J Med Genet (2012) 1.13
A highly sensitive genetic protocol to detect NF1 mutations. J Mol Diagn (2011) 1.08
Neurofibromatosis-1: a maximum likelihood estimation of mutation rate. Hum Genet (1990) 0.92
Fast and robust next-generation sequencing technique using ion torrent personal genome machine for the screening of neurofibromatosis type 1 (NF1) gene. J Mol Neurosci (2014) 0.90
Expression of NF1 pseudogenes. Hum Mutat (2005) 0.85
An unholy alliance: cooperation between BRAF and NF1 in melanoma development and BRAF inhibitor resistance. Cancer Discov (2013) 0.84
A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1. Am J Med Genet A (2013) 0.79
NF1 single and multi-exons copy number variations in neurofibromatosis type 1. J Hum Genet (2015) 0.83