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Human genetic variation database, a reference database of genetic variations in the Japanese population.
Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F. Higasa K, et al. Among authors: migita o. J Hum Genet. 2016 Jun;61(6):547-53. doi: 10.1038/jhg.2016.12. Epub 2016 Feb 25. J Hum Genet. 2016. PMID: 26911352 Free PMC article.
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.
Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A. Takeuchi I, et al. Among authors: migita o. J Med Genet. 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. J Med Genet. 2024. PMID: 37833059 Free article.
An approach for improvement of the accuracy of cancer gene panel testing.
Imoto K, Yamamoto H, Ohkawa C, Shimada N, Ikuzawa R, Takeda H, Ohhara T, Kojima Y, Furuya N, Motoyoshi A, Migita O, Kuga A, Keira T, Wakamatsu H, Sato T, Oike N, Koike J, Yamano Y, Sunakawa Y. Imoto K, et al. Among authors: migita o. Int J Clin Oncol. 2024 May;29(5):571-581. doi: 10.1007/s10147-024-02483-6. Epub 2024 Mar 12. Int J Clin Oncol. 2024. PMID: 38472663
Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants.
Watanabe S, Lei M, Nakagawa E, Takeshita E, Inamori KI, Shishido F, Sasaki M, Mitsuhashi S, Matsumoto N, Kimura Y, Iwasaki M, Takahashi Y, Mizusawa H, Migita O, Ohno I, Inokuchi JI. Watanabe S, et al. Among authors: migita o. Brain Dev. 2023 May;45(5):270-277. doi: 10.1016/j.braindev.2023.01.002. Epub 2023 Jan 21. Brain Dev. 2023. PMID: 36690566
A novel FLNA variant in a fetus with skeletal dysplasia.
Oshina K, Kamei Y, Hori A, Hasegawa F, Taniguchi K, Migita O, Itakura A, Hata K. Oshina K, et al. Among authors: migita o. Hum Genome Var. 2022 Dec 13;9(1):45. doi: 10.1038/s41439-022-00224-7. Hum Genome Var. 2022. PMID: 36509760 Free PMC article.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Minatogawa M, et al. Among authors: migita o. J Med Genet. 2022 Sep;59(9):865-877. doi: 10.1136/jmedgenet-2020-107623. Epub 2021 Nov 23. J Med Genet. 2022. PMID: 34815299 Free PMC article.
47 results