Published in Hum Genomics on August 13, 2012
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer (2015) 1.40
Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1. PLoS One (2017) 1.39
Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. Neuro Oncol (2016) 0.91
NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1. Hum Mol Genet (2016) 0.87
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I. Dis Model Mech (2016) 0.85
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1. Eur J Hum Genet (2015) 0.81
The NF1 gene in tumor syndromes and melanoma. Lab Invest (2017) 0.75
Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames. Orphanet J Rare Dis (2014) 0.75
Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene. Case Rep Oncol Med (2014) 0.75
Lisch and the Importance of His Nodules. West Indian Med J (2014) 0.75
Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1. Eur J Pediatr (2014) 0.75
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev (2009) 5.53
The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell (1990) 4.84
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet (2006) 4.23
NF1 tumor suppressor gene function: narrowing the GAP. Cell (2001) 4.11
An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet (1993) 2.79
Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet (2001) 2.78
Clinical and genetic aspects of neurofibromatosis 1. Genet Med (2010) 2.77
Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol (2006) 2.73
National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987. Neurofibromatosis (1988) 2.53
Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med (2002) 2.39
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
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet (2000) 2.20
cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics (1991) 2.03
A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer (2006) 1.86
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet (2007) 1.77
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet (2000) 1.70
Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney. Am J Med Genet A (2004) 1.67
Histopathology of gastrointestinal stromal tumor. J Surg Oncol (2011) 1.61
Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, Sweden. Acta Derm Venereol (1995) 1.31
Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects. Arch Dermatol Res (2010) 1.30
Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989. Eur J Hum Genet (2011) 1.27
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet (2009) 1.21
Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis (2011) 1.16
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. J Med Genet (2003) 1.15
Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development. Dev Dyn (1992) 1.08
Molecular diagnosis of neurofibromatosis type 1: 2 years experience. Fam Cancer (2007) 1.07
Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patients. Am J Med Genet A (2005) 1.05
Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. J Med Genet (1992) 1.03
Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia. Pediatr Blood Cancer (2010) 1.02
RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it. J Clin Invest (2011) 1.02
Genetic basis of tumorigenesis in NF1 malignant peripheral nerve sheath tumors. Front Biosci (Landmark Ed) (2011) 1.02
Genetic and pathogenetic aspects of Noonan syndrome and related disorders. Horm Res (2009) 1.01
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. Cancer Res (2009) 1.01
Cardiomyocyte-specific loss of neurofibromin promotes cardiac hypertrophy and dysfunction. Circ Res (2009) 0.96
Neurofibromatosis type 1 associated with pheochromocytoma: a case report and a review of the literature. J Endocrinol Invest (2007) 0.95
The role of steroid hormones in the NF1 phenotype: focus on pregnancy. Am J Med Genet A (2008) 0.94
Idiopathic hypertrophic subaortic stenosis associated with cutaneous neurofibromatosis: report of a case. Am Heart J (1976) 0.93
Schwann cells from human neurofibromas show increased proliferation rates under the influence of progesterone. Pediatr Res (2008) 0.90
Lethal presentation of neurofibromatosis and Noonan syndrome. Am J Med Genet A (2011) 0.89
Neurofibromatosis type 1: diagnosis and recent advances. Expert Opin Med Diagn (2010) 0.86
The heart in neurofibromatosis type 1: an echocardiographic study. Am Heart J (2002) 0.86
Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A. Eur J Clin Invest (2009) 0.84
Familial neurofibromatosis and hypertrophic cardiomyopathy. Br Heart J (1988) 0.84
[Hypertrophic myocardiopathy and von Recklinghausen's disease]. Rev Med Interne (1984) 0.80
Soft tissue sarcomas and central nervous system tumors in children with neurofibromatosis type 1. Childs Nerv Syst (2011) 0.79
Overview of recent advances in molecular cardiology. Can J Cardiol (2006) 0.77
Cardiac findings in an individual with neurofibromatosis 1 and sudden death. Am J Med Genet (2001) 0.77
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
The Human Gene Mutation Database: 2008 update. Genome Med (2009) 11.72
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet (2014) 6.69
Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet (2007) 4.62
The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42
Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics (2009) 4.31
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet (2006) 4.23
Insights into hominid evolution from the gorilla genome sequence. Nature (2012) 4.12
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat (2012) 3.60
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Genome Res (2008) 3.33
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet (2012) 3.30
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics (2009) 3.24
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat (2010) 2.67
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat (2005) 2.55
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat (2003) 2.55
Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques. Nat Biotechnol (2011) 2.37
The yak genome and adaptation to life at high altitude. Nat Genet (2012) 2.34
Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci U S A (2004) 2.13
Predicting the functional consequences of cancer-associated amino acid substitutions. Bioinformatics (2013) 2.12
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. Hum Genet (2005) 2.10
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes. Genome Biol (2004) 2.05
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat (2007) 2.03
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet (2005) 1.99
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Curr Protoc Bioinformatics (2012) 1.97
Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol (2012) 1.89
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions. Hum Mutat (2010) 1.81
Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues. Cancer Res (2006) 1.80
Comparative analysis of genome sequences covering the seven cronobacter species. PLoS One (2012) 1.79
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum Mutat (2005) 1.74
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat (2003) 1.73
Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol (2010) 1.72
Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney. Am J Med Genet A (2004) 1.67
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet (2002) 1.65
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Hum Mutat (2009) 1.64
Identifying Mendelian disease genes with the variant effect scoring tool. BMC Genomics (2013) 1.64
A meta-analysis of nonsense mutations causing human genetic disease. Hum Mutat (2008) 1.63
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science (2013) 1.57
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview. Hum Genet (2006) 1.55
A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway. J Clin Endocrinol Metab (2004) 1.55
Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain. Hum Mutat (2012) 1.55
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat (2004) 1.54
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A (2010) 1.49
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Hum Mutat (2008) 1.45
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. J Hum Genet (2011) 1.45
Loss of exon identity is a common mechanism of human inherited disease. Genome Res (2011) 1.44
Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet (2013) 1.43
CRAVAT: cancer-related analysis of variants toolkit. Bioinformatics (2013) 1.43
Complex gene rearrangements caused by serial replication slippage. Hum Mutat (2005) 1.41
Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene. EMBO Mol Med (2009) 1.41
Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution. BMC Evol Biol (2009) 1.40
Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region. Hum Mutat (2003) 1.39
Beware of chasing crystals in sputum samples. Diagn Cytopathol (2004) 1.39
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum Mutat (2005) 1.37
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clin Cancer Res (2008) 1.34
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Hum Genet (2006) 1.33
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet (2006) 1.33
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. Genome Biol (2014) 1.32
Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet (2005) 1.32
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet (2003) 1.31
Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum Mutat (2003) 1.30
Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes. Hum Mutat (2009) 1.28
Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology (2013) 1.28
Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons. Hum Mutat (2007) 1.25
Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties. Genome Res (2008) 1.25
Molecular mechanisms of chromosomal rearrangement during primate evolution. Chromosome Res (2008) 1.22
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease. Genome Res (2011) 1.21
GWAS: heritability missing in action? Eur J Hum Genet (2010) 1.20
A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. J Med Genet (2011) 1.19
Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate. Seizure (2002) 1.18
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Hum Genomics (2011) 1.17
Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes. Hum Genomics (2010) 1.16
Familial isolated congenital asplenia: case report and literature review. Eur J Pediatr (2009) 1.16
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat (2011) 1.14
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Mutat (2010) 1.14
Review and update of SPRED1 mutations causing Legius syndrome. Hum Mutat (2012) 1.13
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Hum Mutat (2004) 1.13
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Hum Mutat (2015) 1.12
Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes). Hum Mutat (2005) 1.10
Segmental dilatation of sigmoid colon in a neonate: atypical presentation and histology. J Pediatr Surg (2011) 1.09
Gain-of-glycosylation mutations. Curr Opin Genet Dev (2007) 1.08