臨床オミックス解析グループ 発表論文

発表論文

2019 2018 2017 2016


2019

Short DNA Probes Developed for Sample Tracking and Quality Assurance in Gene Panel Testing
Fujiki R, Ikeda M, Ohara O.
J Mol Diagn. 2019 Nov; 21(6):1079–1094. doi:10.1016/j.jmoldx.2019.07.003

2018

Assessing the accuracy of variant detection in cost-effective gene panel testing by next-generation sequencing
Fujiki R, Ikeda M, Yoshida A, Akiko M, Yao Y, Nishimura M, Matsushita K, Ichikawa T, Tanaka T, Morisaki H, Morisaki T, Ohara O.
J Mol Diagn. 2018 Sep; 20(5):572-582. doi:10.1016/j.jmoldx.2018.04.004.
Epub 2018 Jun 25. PubMed PMID: 29953964.

2017

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.
Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heike T, Ohara O, Morio T, Fukao T, Kanegane H.
J Allergy Clin Immunol. 2017 Dec 11. [Epub ahead of print]

Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.
Fujiki R, Hijikata A, Shirai T, Okada S, Kobayashi M, Ohara O.
J Biol Chem. 2017 Apr 14;292(15):6240-6254.

IκBNS enhances follicular helper T-cell differentiation and function downstream of ASCl2.
Hosokawa J, Suzuki K, Meguro K, Tanaka S, Maezawa Y, Suto A, Fujimura L, Sakamoto A, Clevers H, Ohara O, Nakajima H.
J Allergy Clin Immunol. 2017 Jul;140(1):288-291.e8.

2016

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S, Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M, El Baghdadi J, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J, Perez L, Danielian S, Ailal F, Takada H, Hara T, Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Kobayashi M.
J Allergy Clin Immunol. 2017 Jul;140(1):232-241.

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
Lévy R, Okada S, Béziat V, Moriya K, Liu C, Chai LY, Migaud M, Hauck F, Al AliA, Cyrus C, Vatte C, Patiroglu T, Unal E, Ferneiny M, Hyakuna N, Nepesov S, Oleastro M, Ikinciogullari A, Dogu F, Asano T, Ohara O, Yun L, Della Mina E, Bronnimann D, Itan Y, Gothe F, Bustamante J, Boisson-Dupuis S, Tahuil N, Aytekin C, Salhi A, Al Muhsen S, Kobayashi M, Toubiana J, Abel L, Li X, Camciogl Y, Celmeli F, Klein C, AlKhater SA, Casanova JL, Puel A.
Proc Natl Acad Sci USA. 2016 Dec 20;113(51):E8277-E8285.