Published in BMC Bioinformatics on October 15, 2010
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. Genet Med (2012) 1.54
Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients. PLoS One (2011) 0.84
InCoB2010 - 9th International Conference on Bioinformatics at Tokyo, Japan, September 26-28, 2010. BMC Bioinformatics (2010) 0.82
A novel rearrangement of occludin causes brain calcification and renal dysfunction. Hum Genet (2013) 0.81
Pitfall of identifying a disease locus by using low-resolution SNP arrays. J Mol Genet Med (2011) 0.75
The International HapMap Project. Nature (2003) 73.65
A high-resolution recombination map of the human genome. Nat Genet (2002) 28.66
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science (1987) 12.20
Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet (2007) 9.61
Mutations of optineurin in amyotrophic lateral sclerosis. Nature (2010) 4.54
HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86
Pitfalls in homozygosity mapping. Am J Hum Genet (2000) 2.12
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. J Med Genet (2004) 2.02
Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis. Am J Respir Crit Care Med (2006) 1.98
The size distribution of homozygous segments in the human genome. Am J Hum Genet (1999) 1.68
A method for distinguishing consanguinity and population substructure using multilocus genotype data. Mol Biol Evol (2001) 1.27
Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan. Am J Respir Crit Care Med (1995) 0.98
State of alpha1-antitrypsin deficiency in Japan. Respirology (2001) 0.83
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFR. N Engl J Med (2010) 27.12
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet (2009) 8.11
Integrative annotation of 21,037 human genes validated by full-length cDNA clones. PLoS Biol (2004) 7.17
A promoter-level mammalian expression atlas. Nature (2014) 6.25
The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line. Nat Genet (2009) 6.02
Mutations of optineurin in amyotrophic lateral sclerosis. Nature (2010) 4.54
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
Phosphate-activated glutaminase (GLS2), a p53-inducible regulator of glutamine metabolism and reactive oxygen species. Proc Natl Acad Sci U S A (2010) 4.18
First-line gefitinib for patients with advanced non-small-cell lung cancer harboring epidermal growth factor receptor mutations without indication for chemotherapy. J Clin Oncol (2009) 4.05
Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia. Genome Res (2003) 3.50
Anticoagulant therapy for idiopathic pulmonary fibrosis. Chest (2005) 3.02
BRAF mutations in papillary carcinomas of the thyroid. Oncogene (2003) 2.94
Senescence marker protein-30 protects mice lungs from oxidative stress, aging, and smoking. Am J Respir Crit Care Med (2006) 2.87
miR-125b inhibits osteoblastic differentiation by down-regulation of cell proliferation. Biochem Biophys Res Commun (2008) 2.16
Development and evaluation of an automated annotation pipeline and cDNA annotation system. Genome Res (2003) 2.15
p73 induction after DNA damage is regulated by checkpoint kinases Chk1 and Chk2. Genes Dev (2004) 2.07
Systematic expression profiling of the mouse transcriptome using RIKEN cDNA microarrays. Genome Res (2003) 1.98
Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis. Am J Respir Crit Care Med (2006) 1.98
Asb4, Ata3, and Dcn are novel imprinted genes identified by high-throughput screening using RIKEN cDNA microarray. Biochem Biophys Res Commun (2002) 1.92
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study. Lancet Neurol (2006) 1.92
FANTOM DB: database of Functional Annotation of RIKEN Mouse cDNA Clones. Nucleic Acids Res (2002) 1.91
Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells. Science (2015) 1.91
Pulmonary alveolar microlithiasis: review and management. Curr Opin Pulm Med (2009) 1.88
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. J Biol Chem (2008) 1.88
Discovery of imprinted transcripts in the mouse transcriptome using large-scale expression profiling. Genome Res (2003) 1.82
Frequency of and variables associated with the EGFR mutation and its subtypes. Int J Cancer (2010) 1.79
Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients. Am J Hum Genet (2007) 1.76
Oxidative stress and acute lung injury. Am J Respir Cell Mol Biol (2003) 1.75
Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients. Histopathology (2014) 1.73
Optical coherence tomographic findings of dissociated optic nerve fiber layer appearance. Am J Ophthalmol (2004) 1.72
CDS annotation in full-length cDNA sequence. Genome Res (2003) 1.70
Lymphangiogenesis in lymphangioleiomyomatosis: its implication in the progression of lymphangioleiomyomatosis. Am J Surg Pathol (2004) 1.67
Retinoic acid inhibits elastase-induced injury in human lung epithelial cell lines. Am J Respir Cell Mol Biol (2003) 1.67
Lymphangiogenesis-mediated shedding of LAM cell clusters as a mechanism for dissemination in lymphangioleiomyomatosis. Am J Surg Pathol (2005) 1.66
Preoperative masked renal damage in Japanese patients with primary aldosteronism: identification of predictors for chronic kidney disease manifested after adrenalectomy. Int J Urol (2012) 1.61
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet (2010) 1.61
The mouse secretome: functional classification of the proteins secreted into the extracellular environment. Genome Res (2003) 1.61
Eosinophil trans-basement membrane migration induced by interleukin-8 and neutrophils. Am J Respir Cell Mol Biol (2006) 1.60
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch Neurol (2004) 1.58
Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet (2007) 1.57
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. J Hum Genet (2002) 1.57
Efficacy and safety of low-dose sirolimus for treatment of lymphangioleiomyomatosis. Respir Investig (2013) 1.55
Combined survival analysis of prospective clinical trials of gefitinib for non-small cell lung cancer with EGFR mutations. Clin Cancer Res (2009) 1.52
Exploration of novel motifs derived from mouse cDNA sequences. Genome Res (2002) 1.51
Genetic control of the innate immune response. BMC Immunol (2003) 1.50
Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patients. Eur J Radiol (2009) 1.50
Impact of the Tohoku earthquake and tsunami on pneumonia hospitalisations and mortality among adults in northern Miyagi, Japan: a multicentre observational study. Thorax (2013) 1.49
High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease. J Neurol Sci (2006) 1.49
Is there any "free" choice? Self and dissonance in two cultures. Psychol Sci (2004) 1.49
miR-210 promotes osteoblastic differentiation through inhibition of AcvR1b. FEBS Lett (2009) 1.46
Factors influencing weaning from mechanical ventilation in elderly patients with severe pneumonia. Geriatr Gerontol Int (2011) 1.43
Detection of genes with tissue-specific expression patterns using Akaike's information criterion procedure. Physiol Genomics (2003) 1.39
Gene discovery in genetically labeled single dopaminergic neurons of the retina. Proc Natl Acad Sci U S A (2004) 1.38
Molecular analysis of gene expression in the developing pontocerebellar projection system. Neuron (2002) 1.37
A novel preadipocyte cell line established from mouse adult mature adipocytes. Biochem Biophys Res Commun (2004) 1.36
Effects of rhinovirus infection on the adherence of Streptococcus pneumoniae to cultured human airway epithelial cells. J Infect Dis (2003) 1.35
First-line gefitinib in patients aged 75 or older with advanced non-small cell lung cancer harboring epidermal growth factor receptor mutations: NEJ 003 study. J Thorac Oncol (2012) 1.33
Clarithromycin suppresses lipopolysaccharide-induced interleukin-8 production by human monocytes through AP-1 and NF-kappa B transcription factors. J Antimicrob Chemother (2002) 1.31
Increased susceptibility to LPS-induced endotoxin shock in secretory leukoprotease inhibitor (SLPI)-deficient mice. J Exp Med (2003) 1.30
Hypoxia diminishes toll-like receptor 4 expression through reactive oxygen species generated by mitochondria in endothelial cells. J Immunol (2002) 1.29
Excess HDM2 impacts cell cycle and apoptosis and has a selective effect on p53-dependent transcription. J Biol Chem (2006) 1.28
Matrix metalloproteinase 3 is a mediator of pulmonary fibrosis. Am J Pathol (2011) 1.27
Activity of EGFR-tyrosine kinase and ALK inhibitors for EML4-ALK-rearranged non-small-cell lung cancer harbored coexisting EGFR mutation. BMC Cancer (2013) 1.26
B cell chemoattractant CXCL13 is preferentially expressed by human Th17 cell clones. J Immunol (2008) 1.26
Isolation of a Leptothrix strain, OUMS1, from ocherous deposits in groundwater. Curr Microbiol (2011) 1.25
Neutrophil transmigration triggers repair of the lung epithelium via beta-catenin signaling. Proc Natl Acad Sci U S A (2011) 1.25
SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. Am J Hum Genet (2003) 1.24
Gene transfer of thromboxane A(2) synthase and prostaglandin I(2) synthase antithetically altered tumor angiogenesis and tumor growth. Cancer Res (2002) 1.22
LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease. Mov Disord (2009) 1.22
Indefinite self-renewal of ESCs through Myc/Max transcriptional complex-independent mechanisms. Cell Stem Cell (2011) 1.20
Enhancer of zeste homolog 2 is a novel prognostic biomarker in nonsmall cell lung cancer. Cancer (2011) 1.20
READ: RIKEN Expression Array Database. Nucleic Acids Res (2002) 1.18
Identification of glycosylation genes and glycosylated amino acids of flagellin in Pseudomonas syringae pv. tabaci. Cell Microbiol (2006) 1.18
Osteopontin expression in pulmonary tumor thrombotic microangiopathy caused by gastric carcinoma. Pathol Int (2009) 1.14
NUB1 suppresses the formation of Lewy body-like inclusions by proteasomal degradation of synphilin-1. Am J Pathol (2006) 1.14
The epidemiology of lymphangioleiomyomatosis in Japan: a nationwide cross-sectional study of presenting features and prognostic factors. Respirology (2007) 1.14
Novel peroxisomal protease Tysnd1 processes PTS1- and PTS2-containing enzymes involved in beta-oxidation of fatty acids. EMBO J (2007) 1.13
Epidermal growth factor receptor (EGFR) mutation and personalized therapy in advanced nonsmall cell lung cancer (NSCLC). Target Oncol (2013) 1.13
Amino acid sequence of bacterial microbe-associated molecular pattern flg22 is required for virulence. Mol Plant Microbe Interact (2008) 1.12
A prospective PCR-based screening for the EML4-ALK oncogene in non-small cell lung cancer. Clin Cancer Res (2012) 1.12
Inferring alternative splicing patterns in mouse from a full-length cDNA library and microarray data. Genome Res (2002) 1.11
Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Fam Cancer (2013) 1.10