Publications by authors named "Naoki Kitabayashi"

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Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.
Marie-Louise Frémond, Alice Hadchouel, Laureline Berteloot, Isabelle Melki, Violaine Bresson, Naoki Kitabayashi

J Allergy Clin Immunol Pract· February 2021

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Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.
Isabelle Melki, Hervé Devilliers, Cyril Gitiaux, Vincent Bondet, Darragh Duffy, Naoki Kitabayashi

Rheumatology (Oxford)· August 2020

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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome.
Gillian I Rice, Candice Meyzer, Naïm Bouazza, Marie Hully, Nathalie Boddaert, Naoki Kitabayashi

N Engl J Med· December 2018

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Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.
Nicholas Hernandez, Isabelle Melki, Huie Jing, Tanwir Habib, Susie S Y Huang, Naoki Kitabayashi

J Exp Med· October 2018

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Type I interferon-mediated autoinflammation due to DNase II deficiency.
Mathieu P Rodero, Alessandra Tesser, Eva Bartok, Gillian I Rice, Erika Della Mina, Naoki Kitabayashi

Nat Commun· December 2017

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Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
Luciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, Nadja Ehmke, Nikolaus Deigendesch, Naoki Kitabayashi

Arthritis Rheumatol· October 2017

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Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.
Isabelle Melki, Yoann Rose, Carolina Uggenti, Lien Van Eyck, Marie-Louise Frémond, Naoki Kitabayashi

J Allergy Clin Immunol· August 2017

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Brief Report: Blockade of TANK-Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells.
Marie-Louise Frémond, Carolina Uggenti, Lien Van Eyck, Isabelle Melki, Vincent Bondet, Naoki Kitabayashi

Arthritis Rheumatol· July 2017

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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel C E Burton

Neuropediatrics· June 2017

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Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.
Gillian I Rice, Isabelle Melki, Marie-Louise Frémond, Tracy A Briggs, Mathieu P Rodero, Naoki Kitabayashi

J Clin Immunol· February 2017

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Antibody-independent targeted quantification of TMPRSS2-ERG fusion protein products in prostate cancer.
Jintang He, Xuefei Sun, Tujin Shi, Athena A Schepmoes, Thomas L Fillmore, Naoki Kitabayashi

Mol Oncol· October 2014

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PCAT-1, a long noncoding RNA, regulates BRCA2 and controls homologous recombination in cancer.
John R Prensner, Wei Chen, Matthew K Iyer, Qi Cao, Teng Ma, Naoki Kitabayashi

Cancer Res· March 2014

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Integrative annotation of variants from 1092 humans: application to cancer genomics.
Ekta Khurana, Yao Fu, Vincenza Colonna, Xinmeng Jasmine Mu, Hyun Min Kang, Naoki Kitabayashi

Science· October 2013

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Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma.
Juan Miguel Mosquera, Andrea Sboner, Lei Zhang, Naoki Kitabayashi, Chun-Liang Chen

Genes Chromosomes Cancer· June 2013

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Punctuated evolution of prostate cancer genomes.
Sylvan C Baca, Davide Prandi, Michael S Lawrence, Juan Miguel Mosquera, Alessandro Romanel, Naoki Kitabayashi

Cell· April 2013

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MicroRNA expression aids the preoperative diagnosis of pancreatic ductal adenocarcinoma.
Nicole C Panarelli, Yao-Tseng Chen, Xi K Zhou, Naoki Kitabayashi, Rhonda K Yantiss

Pancreas· July 2012

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Next-generation prostate cancer biobanking: toward a processing protocol amenable for the International Cancer Genome Consortium.
Raquel Esgueva, Kyung Park, Robert Kim, Naoki Kitabayashi, Christopher E Barbieri

Diagn Mol Pathol· June 2012

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Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.
Christopher E Barbieri, Sylvan C Baca, Michael S Lawrence, Francesca Demichelis, Mirjam Blattner, Naoki Kitabayashi

Nat Genet· May 2012

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Identification of functionally active, low frequency copy number variants at 15q21.3 and 12q21.31 associated with prostate cancer risk.
Francesca Demichelis, Sunita R Setlur, Samprit Banerjee, Dimple Chakravarty, Jin Yun Helen Chen, Naoki Kitabayashi

Proc Natl Acad Sci U S A· April 2012

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AlleleSeq: analysis of allele-specific expression and binding in a network framework.
Joel Rozowsky, Alexej Abyzov, Jing Wang, Pedro Alves, Debasish Raha, Naoki Kitabayashi

Mol Syst Biol· August 2011

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Biobanking after robotic-assisted radical prostatectomy: a quality assessment of providing prostate tissue for RNA studies.
Harveer Dev, David Rickman, Prasanna Sooriakumaran, Abhishek Srivastava, Sonal Grover, Naoki Kitabayashi

J Transl Med· July 2011

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FusionSeq: a modular framework for finding gene fusions by analyzing paired-end RNA-sequencing data.
Andrea Sboner, Lukas Habegger, Dorothee Pflueger, Stephane Terry, David Z Chen, Naoki Kitabayashi

Genome Biol· June 2011

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Testing mutual exclusivity of ETS rearranged prostate cancer.
Maria A Svensson, Christopher J LaFargue, Theresa Y MacDonald, Dorothee Pflueger, Naoki Kitabayashi

Lab Invest· March 2011

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The genomic complexity of primary human prostate cancer.
Michael F Berger, Michael S Lawrence, Francesca Demichelis, Yotam Drier, Kristian Cibulskis, Naoki Kitabayashi

Nature· February 2011

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Discovery of non-ETS gene fusions in human prostate cancer using next-generation RNA sequencing.
Dorothee Pflueger, Stéphane Terry, Andrea Sboner, Lukas Habegger, Raquel Esgueva, Naoki Kitabayashi

Genome Res· January 2011

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