臨床解析チーム

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

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.

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.

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.