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Author Details

Naoki Kitabayashi
2007
32
25
PMIDPaper TitleJournal TitlePublished Year
33217613Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.Journal of Allergy and Clinical Immunology: In Practice2021
31755959Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.Rheumatology2020
30566312Reverse-Transcriptase Inhibitors in the Aicardi⿿Goutières SyndromeNew England Journal of Medicine2018
30143481Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.J Exp Med2018
27943079Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.Journal of Clinical Immunology2017
28605144Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.Arthritis Rheumatol2017
28426911Brief Report: Blockade of TANK-Binding Kinase 1/IKKÉ¿ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells.Arthritis and Rheumatology2017
28561207Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.Neuropediatrics2017
29259162Type I interferon-mediated autoinflammation due to DNase II deficiency.Nature Communications2017
28087229Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.Journal of Allergy and Clinical Immunology2017
24473064PCAT-1, a long noncoding RNA, regulates BRCA2 and controls homologous recombination in cancer.Cancer Res2014
25266362Antibody-independent targeted quantification of TMPRSS2-ERG fusion protein products in prostate cancer.Mol Oncol2014
23622249Punctuated evolution of prostate cancer genomes.Cell2013
24092746Integrative annotation of variants from 1092 humans: application to cancer genomics.Science2013
23463663Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma.Genes Chromosomes Cancer2013
22555088Next-generation prostate cancer biobanking: toward a processing protocol amenable for the International Cancer Genome Consortium.Diagn Mol Pathol2012
22496589Identification of functionally active, low frequency copy number variants at 15q21.3 and 12q21.31 associated with prostate cancer risk.Proc Natl Acad Sci U S A2012
22466166MicroRNA expression aids the preoperative diagnosis of pancreatic ductal adenocarcinoma.Pancreas2012
22610119Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.Nat Genet2012
21791045Biobanking after robotic-assisted radical prostatectomy: a quality assessment of providing prostate tissue for RNA studies.J Transl Med2011
21307934The genomic complexity of primary human prostate cancer.Nature2011
21036922Discovery of non-ETS gene fusions in human prostate cancer using next-generation RNA sequencing.Genome Res2011
20975660Testing mutual exclusivity of ETS rearranged prostate cancer.Lab Invest2011
21811232AlleleSeq: analysis of allele-specific expression and binding in a network framework.Mol Syst Biol2011
20056642Genetic variation of genes involved in dihydrotestosterone metabolism and the risk of prostate cancer.Cancer Epidemiol Biomarkers Prev2010
20964841FusionSeq: a modular framework for finding gene fusions by analyzing paired-end RNA-sequencing data.Genome Biol2010
19926578Clonal relationship between closely approximated low-grade ductal and lobular lesions in the breast: a molecular study of 10 cases.Am J Clin Pathol2009
19228643Combined small cell lung carcinomas: genotypic and immunophenotypic analysis of the separate morphologic components.Am J Clin Pathol2009
19762526In situ evidence of KRAS amplification and association with increased p21 levels in non-small cell lung carcinoma.Am J Clin Pathol2009
19649210N-myc downstream regulated gene 1 (NDRG1) is fused to ERG in prostate cancer.Neoplasia2009
18587330MicroRNA analysis as a potential diagnostic tool for papillary thyroid carcinoma.Mod Pathol2008
17632455Gene fusions between TMPRSS2 and ETS family genes in prostate cancer: frequency and transcript variant analysis by RT-PCR and FISH on paraffin-embedded tissues.Mod Pathol2007
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Broad Institute of MIT and Harvard
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Broad Institute of the Massachusetts Institute of Technology and Harvard
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Medical Research Council Laboratory of Molecular Biology
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The Broad Institute of Harvard and MIT
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