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Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Hijikata A, Suyama M, Kikugawa S, Matoba R, Naruto T, Enomoto Y, Kurosawa K, Harada N, Yanagi K, Kaname T, Miyako K, Takazawa M, Sasai H, Hosokawa J, Itoga S, Yamaguchi T, Kosho T, Matsubara K, Kuroki Y, Fukami M, Adachi K, Nanba E, Tsuchida N, Uchiyama Y, Matsumoto N, Nishimura K, Ohara O. Hijikata A, et al. Nucleic Acids Res. 2024 Jan 11;52(1):114-124. doi: 10.1093/nar/gkad1140. Nucleic Acids Res. 2024. PMID: 38015437 Free PMC article.
Generalized pustular psoriasis that developed in a patient with an NFKB2 variant.
Wada S, Namiki T, Ebata A, Takeichi T, Akiyama M, Yamada M, Hijikata A, Shimomura Y, Kanegane H, Okiyama N. Wada S, et al. Among authors: hijikata a. J Dtsch Dermatol Ges. 2024 Jan;22(1):118-120. doi: 10.1111/ddg.15273. Epub 2023 Dec 20. J Dtsch Dermatol Ges. 2024. PMID: 38117957 No abstract available.
Aicardi-Goutières syndrome is caused by IFIH1 mutations.
Oda H, Nakagawa K, Abe J, Awaya T, Funabiki M, Hijikata A, Nishikomori R, Funatsuka M, Ohshima Y, Sugawara Y, Yasumi T, Kato H, Shirai T, Ohara O, Fujita T, Heike T. Oda H, et al. Among authors: hijikata a. Am J Hum Genet. 2014 Jul 3;95(1):121-5. doi: 10.1016/j.ajhg.2014.06.007. Am J Hum Genet. 2014. PMID: 24995871 Free PMC article.
Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.
Kawasaki Y, Oda H, Ito J, Niwa A, Tanaka T, Hijikata A, Seki R, Nagahashi A, Osawa M, Asaka I, Watanabe A, Nishimata S, Shirai T, Kawashima H, Ohara O, Nakahata T, Nishikomori R, Heike T, Saito MK. Kawasaki Y, et al. Among authors: hijikata a. Arthritis Rheumatol. 2017 Feb;69(2):447-459. doi: 10.1002/art.39960. Arthritis Rheumatol. 2017. PMID: 27788288
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene.
Takasawa K, Tsuji-Hosokawa A, Takishima S, Wada Y, Nagasaki K, Dateki S, Numakura C, Hijikata A, Shirai T, Kashimada K, Morio T. Takasawa K, et al. Among authors: hijikata a. J Diabetes. 2019 Jan;11(1):46-54. doi: 10.1111/1753-0407.12797. Epub 2018 Jul 4. J Diabetes. 2019. PMID: 29877041
116 results