Published in Hum Genet on February 08, 2007
Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors. J Clin Oncol (2010) 4.01
Genetic and functional studies implicate HIF1α as a 14q kidney cancer suppressor gene. Cancer Discov (2011) 3.45
Copy number variations and cancer. Genome Med (2009) 1.59
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int (2008) 1.58
CAG repeats mimic CUG repeats in the misregulation of alternative splicing. Nucleic Acids Res (2011) 1.42
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet (2010) 1.34
Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. Brain Pathol (2010) 1.32
TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. Oncogene (2009) 1.16
SQSTM1 is a pathogenic target of 5q copy number gains in kidney cancer. Cancer Cell (2013) 1.15
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet (2015) 1.07
Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value. PLoS One (2013) 1.05
Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin. Hum Mol Genet (2011) 1.05
Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism. Eur J Hum Genet (2011) 1.03
Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots. Genomics (2007) 1.02
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients. Eur J Hum Genet (2010) 1.00
Angiomyolipoma have common mutations in TSC2 but no other common genetic events. PLoS One (2011) 0.99
Copy number variation of microRNA genes in the human genome. BMC Genomics (2011) 0.97
Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet (2012) 0.92
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A (2010) 0.90
High copy number variation of cancer-related microRNA genes and frequent amplification of DICER1 and DROSHA in lung cancer. Oncotarget (2015) 0.90
Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet (2008) 0.89
Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example. ScientificWorldJournal (2010) 0.89
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis. Fam Cancer (2011) 0.87
Clinical and molecular insights into tuberous sclerosis complex renal disease. Pediatr Nephrol (2010) 0.87
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. Eur J Hum Genet (2015) 0.86
Tuberous sclerosis complex: the past and the future. Pediatr Nephrol (2014) 0.86
Genotype and brain pathology phenotype in children with tuberous sclerosis complex. Eur J Hum Genet (2016) 0.85
The use of a two-tiered testing strategy for the simultaneous detection of small EGFR mutations and EGFR amplification in lung cancer. PLoS One (2015) 0.84
Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach. BMC Genomics (2009) 0.83
Hereditary kidney cancer syndromes. Adv Chronic Kidney Dis (2014) 0.82
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. PLoS Genet (2016) 0.78
Deletion/duplication mutation screening of TP53 gene in patients with transitional cell carcinoma of urinary bladder using multiplex ligation-dependent probe amplification. Cancer Med (2015) 0.78
Identification of rare germline copy number variations over-represented in five human cancer types. Mol Cancer (2015) 0.78
Custom-designed MLPA using multiple short synthetic probes: application to methylation analysis of five promoter CpG islands in tumor and urine specimens from patients with bladder cancer. J Mol Diagn (2010) 0.77
Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative). Sci Rep (2015) 0.77
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated. BMC Med Genet (2015) 0.77
Treatment of renal angiomyolipoma in tuberous sclerosis complex (TSC) patients. Pediatr Nephrol (2016) 0.76
MLPA-Based Analysis of Copy Number Variation in Plant Populations. Front Plant Sci (2017) 0.75
MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency. Oncotarget (2016) 0.75
Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex. GMS Ophthalmol Cases (2016) 0.75
Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway. Dermatol Clin (2017) 0.75
Copy number variation of genes involved in the hepatitis C virus-human interactome. Sci Rep (2016) 0.75
Understanding the health economic burden of patients with tuberous sclerosis complex (TSC) with epilepsy: a retrospective cohort study in the UK Clinical Practice Research Datalink (CPRD). BMJ Open (2017) 0.75
A fine-scale map of recombination rates and hotspots across the human genome. Science (2005) 26.82
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res (2002) 16.02
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Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell (1993) 7.59
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science (1997) 6.10
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet (2004) 4.47
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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet (2000) 3.44
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet (2005) 3.43
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Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet (1994) 2.35
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet (1999) 2.26
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet (1997) 2.06
Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat (2005) 1.43
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer (2006) 1.41
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
Large deletion at the TSC1 locus in a family with tuberous sclerosis complex. Genet Test (2005) 0.97
PKD1 intron 21: triplex DNA formation and effect on replication. Nucleic Acids Res (2004) 0.95
Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16. Hum Mutat (1997) 0.94
TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene. Hum Genet (2001) 0.91
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. Eur J Pediatr (2002) 0.90
Renal disease in adults with TSC2/PKD1 contiguous gene syndrome. Am J Surg Pathol (2002) 0.89
Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination. J Med Genet (2000) 0.87
Galaxy: a web-based genome analysis tool for experimentalists. Curr Protoc Mol Biol (2010) 17.00
Extracting principal diagnosis, co-morbidity and smoking status for asthma research: evaluation of a natural language processing system. BMC Med Inform Decis Mak (2006) 9.98
LKB1 modulates lung cancer differentiation and metastasis. Nature (2007) 7.80
Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR. J Clin Invest (2003) 6.04
Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med (2008) 5.15
Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci U S A (2002) 4.93
Tuberous sclerosis. Lancet (2008) 4.24
Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM). J Biol Chem (2002) 4.19
Instrumenting the health care enterprise for discovery research in the genomic era. Genome Res (2009) 4.13
Design of a national distributed health data network. Ann Intern Med (2009) 4.09
Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors. J Clin Oncol (2010) 4.01
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci (2005) 4.00
Genomewide association between GLCCI1 and response to glucocorticoid therapy in asthma. N Engl J Med (2011) 3.80
A generalized linear mixed models approach for detecting incident clusters of disease in small areas, with an application to biological terrorism. Am J Epidemiol (2004) 3.71
Hematopoietic cell regulation by Rac1 and Rac2 guanosine triphosphatases. Science (2003) 3.70
Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci (2008) 3.64
PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR. J Clin Invest (2007) 3.54
A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. J Neurosci (2007) 3.51
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am J Hum Genet (2009) 3.41
Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures. Ann Neurol (2002) 3.37
On the replication of genetic associations: timing can be everything! Am J Hum Genet (2008) 3.32
Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol (2007) 3.29
Distributed health data networks: a practical and preferred approach to multi-institutional evaluations of comparative effectiveness, safety, and quality of care. Med Care (2010) 3.29
Feedback inhibition of Akt signaling limits the growth of tumors lacking Tsc2. Genes Dev (2005) 3.25
mTOR-raptor binds and activates SGK1 to regulate p27 phosphorylation. Mol Cell (2008) 3.06
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Potential histologic and molecular predictors of response to temsirolimus in patients with advanced renal cell carcinoma. Clin Genitourin Cancer (2007) 3.00
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Akt stimulates hepatic SREBP1c and lipogenesis through parallel mTORC1-dependent and independent pathways. Cell Metab (2011) 2.91
Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol (2009) 2.80
Rapid turnover of actin in dendritic spines and its regulation by activity. Nat Neurosci (2002) 2.78
Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent. Proc Natl Acad Sci U S A (2011) 2.73
mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice. J Clin Invest (2011) 2.72
Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. Arch Pathol Lab Med (2013) 2.66
Rac1 deletion in mouse neutrophils has selective effects on neutrophil functions. J Immunol (2003) 2.59
mTORC1-dependent and -independent regulation of stem cell renewal, differentiation, and mobilization. Proc Natl Acad Sci U S A (2008) 2.48
Automated identification of acute hepatitis B using electronic medical record data to facilitate public health surveillance. PLoS One (2008) 2.45
Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models. Genes Chromosomes Cancer (2005) 2.42
Tuberous sclerosis complex proteins control axon formation. Genes Dev (2008) 2.33
Minimal haplotype tagging. Proc Natl Acad Sci U S A (2003) 2.28
Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci U S A (2006) 2.28
Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res (2006) 2.26
Association of vitamin D receptor gene polymorphisms with childhood and adult asthma. Am J Respir Crit Care Med (2004) 2.24
Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. Am J Hum Genet (2002) 2.23
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol (2013) 2.22
A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. Kidney Int (2010) 2.22
TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell (2012) 2.22
Somatic LKB1 mutations promote cervical cancer progression. PLoS One (2009) 2.21
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med (2007) 2.20
The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). Hum Mol Genet (2004) 2.19
Tsc2-Rheb signaling regulates EphA-mediated axon guidance. Nat Neurosci (2010) 2.17
Syndromic surveillance using minimum transfer of identifiable data: the example of the National Bioterrorism Syndromic Surveillance Demonstration Program. J Urban Health (2003) 2.15
Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids. Hum Mol Genet (2004) 2.14
An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice. Nat Med (2008) 2.12
Assessing the reproducibility of asthma candidate gene associations, using genome-wide data. Am J Respir Crit Care Med (2009) 2.10
Response and acquired resistance to everolimus in anaplastic thyroid cancer. N Engl J Med (2014) 2.09
Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. Lancet (2003) 2.09
Regulation of endothelial nitric oxide synthase and postnatal angiogenesis by Rac1. Circ Res (2008) 2.04
Requirement of Rac1 in the development of cardiac hypertrophy. Proc Natl Acad Sci U S A (2006) 2.02
Genetic association analysis of functional impairment in chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2006) 1.98
Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev (2010) 1.96
Genetic determinants of emphysema distribution in the national emphysema treatment trial. Am J Respir Crit Care Med (2007) 1.94
Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin. Cancer Res (2003) 1.90
Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Circ Cardiovasc Genet (2008) 1.89
Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes. Hum Mol Genet (2010) 1.89
Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity. J Neurosurg (2005) 1.89
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol (2006) 1.87
Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade. J Clin Invest (2009) 1.80
Sequence variants of Toll-like receptor 4 and susceptibility to prostate cancer. Cancer Res (2005) 1.77
Loss of primary cilia upregulates renal hypertrophic signaling and promotes cystogenesis. J Am Soc Nephrol (2011) 1.75
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet (2011) 1.70
Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci (2009) 1.67
Single nucleotide polymorphisms in innate immunity genes: abundant variation and potential role in complex human disease. Immunol Rev (2002) 1.65
IL10 gene polymorphisms are associated with asthma phenotypes in children. Genet Epidemiol (2004) 1.64
Balancing selection is the main force shaping the evolution of innate immunity genes. J Immunol (2008) 1.63
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet (2004) 1.62
Rac1-null mouse embryonic fibroblasts are motile and respond to platelet-derived growth factor. Mol Biol Cell (2006) 1.60
Tuberous sclerosis complex: tumors and tumorigenesis. Int J Dermatol (2011) 1.60
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci U S A (2011) 1.58
FoxOs enforce a progression checkpoint to constrain mTORC1-activated renal tumorigenesis. Cancer Cell (2010) 1.58
The introduction of systematic genomic testing for patients with non-small-cell lung cancer. J Thorac Oncol (2012) 1.53
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J Neuropathol Exp Neurol (2004) 1.52
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. Circ Cardiovasc Genet (2009) 1.51
Chronic activation of mTOR complex 1 is sufficient to cause hepatocellular carcinoma in mice. Sci Signal (2012) 1.50
Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol (2006) 1.47
Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway. Mol Cell Neurosci (2002) 1.47
Integrating clinical practice and public health surveillance using electronic medical record systems. Am J Prev Med (2012) 1.46
ADAM33 polymorphisms and phenotype associations in childhood asthma. J Allergy Clin Immunol (2004) 1.43
Role of the Tsc1-Tsc2 complex in signaling and transport across the cell membrane in the fission yeast Schizosaccharomyces pombe. Genetics (2002) 1.43
Reduction of post-traumatic neuroma and epineural scar formation in rat sciatic nerve by application of microcrystallic chitosan. Microsurgery (2011) 1.43
Identification of a transcriptional profile associated with in vitro invasion in non-small cell lung cancer cell lines. Cancer Biol Ther (2004) 1.42