Published in Hum Mutat on March 08, 2011
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol (2015) 1.24
Genotype and cognitive phenotype of patients with tuberous sclerosis complex. Eur J Hum Genet (2011) 1.02
The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits. BMC Biochem (2012) 0.87
Genotype and brain pathology phenotype in children with tuberous sclerosis complex. Eur J Hum Genet (2016) 0.85
Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex. Neuro Oncol (2015) 0.80
Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex. PLoS One (2014) 0.80
Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet (2016) 0.78
Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation. Mol Brain (2016) 0.76
Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis. J Biol Chem (2016) 0.76
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Mol Autism (2013) 0.76
Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2). Eur J Hum Genet (2013) 0.75
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. Am J Hum Genet (2017) 0.75
Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. PLoS One (2014) 0.75
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis. Hum Mutat (2016) 0.75
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. Sci Rep (2017) 0.75
The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease. Pediatr Nephrol (2014) 0.75
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. PLoS One (2017) 0.75
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell (2012) 11.69
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms. Nucleic Acids Res (2008) 10.10
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet (2002) 9.71
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet (2010) 7.62
Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med (2007) 7.29
The HGNC Database in 2008: a resource for the human genome. Nucleic Acids Res (2007) 7.29
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22
Gene map of the extended human MHC. Nat Rev Genet (2004) 6.01
Guidelines for human gene nomenclature. Genomics (2002) 5.58
LOVD v.2.0: the next generation in gene variant databases. Hum Mutat (2011) 5.53
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Genew: the human gene nomenclature database. Nucleic Acids Res (2002) 5.09
Genew: the Human Gene Nomenclature Database, 2004 updates. Nucleic Acids Res (2004) 5.09
The HUGO Gene Nomenclature Database, 2006 updates. Nucleic Acids Res (2006) 5.02
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. Am J Hum Genet (2008) 4.31
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat (2008) 4.22
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
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
Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet (2012) 3.33
Mammalian target of rapamycin up-regulation of pyruvate kinase isoenzyme type M2 is critical for aerobic glycolysis and tumor growth. Proc Natl Acad Sci U S A (2011) 3.14
Phase I/IIa study of cilengitide and temozolomide with concomitant radiotherapy followed by cilengitide and temozolomide maintenance therapy in patients with newly diagnosed glioblastoma. J Clin Oncol (2010) 3.05
Retracted Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin. J Biol Chem (2002) 2.97
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat (2005) 2.86
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation. Epilepsia (2008) 2.81
Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis. N Engl J Med (2008) 2.70
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat (2009) 2.67
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat (2009) 2.59
BRCA1 mutation analysis of 41 human breast cancer cell lines reveals three new deleterious mutants. Cancer Res (2006) 2.58
Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. Int J Cancer (2004) 2.53
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. Nat Biotechnol (2013) 2.53
Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent. J Cell Biol (2002) 2.46
The value of data. Nat Genet (2011) 2.40
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
Prorenin induces intracellular signaling in cardiomyocytes independently of angiotensin II. Hypertension (2006) 2.39
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin. FASEB J (2007) 2.30
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet (2003) 2.17
GTF2IRD1 in craniofacial development of humans and mice. Science (2005) 2.15
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry (2014) 2.15
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Am J Respir Cell Mol Biol (2005) 2.08
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A (2014) 2.02
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet (2002) 2.02
Increased AKT S473 phosphorylation after mTORC1 inhibition is rictor dependent and does not predict tumor cell response to PI3K/mTOR inhibition. Mol Cancer Ther (2009) 1.98
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet (2003) 1.93
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet (2006) 1.93
Critical role for hypothalamic mTOR activity in energy balance. Cell Metab (2009) 1.90
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol (2006) 1.87
Standardizing mutation nomenclature: why bother? Hum Mutat (2003) 1.80
Evaluation of a 433 MHz band body sensor network for biomedical applications. Sensors (Basel) (2013) 1.78
Rheb is essential for murine development. Mol Cell Biol (2011) 1.76
Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treated. BJU Int (2009) 1.76
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord (2002) 1.72
Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet (2005) 1.71
A revised nomenclature for the human and rodent alpha-tubulin gene family. Genomics (2007) 1.68
Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk. Cell Cycle (2011) 1.64
IL10 gene polymorphisms are associated with asthma phenotypes in children. Genet Epidemiol (2004) 1.64
Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat (2011) 1.62
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
Ethiopian genetic diversity reveals linguistic stratification and complex influences on the Ethiopian gene pool. Am J Hum Genet (2012) 1.60
Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet (2003) 1.58
Sharing data between LSDBs and central repositories. Hum Mutat (2009) 1.57
High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli. Mol Biol Cell (2010) 1.56
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet (2002) 1.55
Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet (2003) 1.52
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection. Clin Chem (2012) 1.52
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn (2007) 1.50
Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child (2010) 1.47
Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem (2004) 1.47
Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides. Mol Ther (2004) 1.46
Fluorescent labelling of cRNA for microarray applications. Nucleic Acids Res (2003) 1.46
Molecular and phenotypic characterization of ring chromosome 22. Am J Med Genet A (2005) 1.45
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J (2006) 1.44
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics (2006) 1.40
New methods for next generation sequencing based microRNA expression profiling. BMC Genomics (2010) 1.38
Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons. Mol Ther (2006) 1.38
Phage display screening without repetitious selection rounds. Anal Biochem (2011) 1.36
Can subtle changes in gene expression be consistently detected with different microarray platforms? BMC Genomics (2008) 1.36
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. J Med Genet (2006) 1.35
A common reference for cDNA microarray hybridizations. Nucleic Acids Res (2002) 1.35
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet (2012) 1.34
Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations. Mol Biol Evol (2013) 1.33