Published in Hum Mutat on January 25, 2012
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Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. Aging Cell (2006) 3.24
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
Polarised asymmetric inheritance of accumulated protein damage in higher eukaryotes. PLoS Biol (2006) 3.06
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science (2005) 2.92
Prevalence and clinical symptoms of human metapneumovirus infection in hospitalized patients. J Infect Dis (2003) 2.91
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
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Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
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Breast cancer risk in female survivors of Hodgkin's lymphoma: lower risk after smaller radiation volumes. J Clin Oncol (2009) 2.42
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet (2013) 2.42
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Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol (2012) 2.33
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain (2012) 2.33
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Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med (2006) 2.28
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Breast cancer survival and tumor characteristics in premenopausal women carrying the CHEK2*1100delC germline mutation. J Clin Oncol (2006) 2.28
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet (2013) 2.24
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Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain (2010) 2.19
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep (2011) 2.17
PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet (2009) 2.16
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol (2005) 2.16
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ABCB1 and ABCC3 gene polymorphisms are associated with first-year response to methotrexate in juvenile idiopathic arthritis. J Rheumatol (2012) 2.14
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am J Hum Genet (2007) 2.14
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain (2013) 2.09
Therapeutic drug monitoring of voriconazole. Ther Drug Monit (2008) 2.09
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A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet (2005) 2.06
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol (2012) 1.98
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Aspergillus fumigatus evades immune recognition during germination through loss of toll-like receptor-4-mediated signal transduction. J Infect Dis (2003) 1.91
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
Treatment with highly active antiretroviral therapy in human immunodeficiency virus type 1-infected children is associated with a sustained effect on growth. Pediatrics (2002) 1.82
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res (2012) 1.81
Expression profiling predicts outcome in breast cancer. Breast Cancer Res (2002) 1.81
Factors associated with treatment response to etanercept in juvenile idiopathic arthritis. JAMA (2011) 1.80
A dominant-negative GFI1B mutation in the gray platelet syndrome. N Engl J Med (2013) 1.75
Propriospinal myoclonus after treatment with ciprofloxacin. Mov Disord (2004) 1.75
The predictive value of the 70-gene signature for adjuvant chemotherapy in early breast cancer. Breast Cancer Res Treat (2010) 1.75
Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial. Lancet Neurol (2013) 1.74
Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers. Eur Heart J (2009) 1.73
Glutamine sensitivity analysis identifies the xCT antiporter as a common triple-negative breast tumor therapeutic target. Cancer Cell (2013) 1.73
Prediction and assessment of splicing alterations: implications for clinical testing. Hum Mutat (2008) 1.73
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain (2007) 1.73
Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies. Eur Heart J (2007) 1.72
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Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations. JACC Cardiovasc Imaging (2009) 1.70
Comparative genomic hybridization profiles in human BRCA1 and BRCA2 breast tumors highlight differential sets of genomic aberrations. Cancer Res (2005) 1.70
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet (2010) 1.69
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CodY of Streptococcus pneumoniae: link between nutritional gene regulation and colonization. J Bacteriol (2007) 1.64
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Recognizable phenotypes associated with intracranial calcification. Dev Med Child Neurol (2012) 1.63