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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. Among authors: uchiyama y. Nucleic Acids Res. 2024 Jan 11;52(1):114-124. doi: 10.1093/nar/gkad1140. Nucleic Acids Res. 2024. PMID: 38015437 Free PMC article.
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. Hamanaka K, et al. Among authors: uchiyama y. Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066. Hum Mol Genet. 2019. PMID: 30985895
Whole exome sequencing of fetal structural anomalies detected by ultrasonography.
Aoi H, Mizuguchi T, Suzuki T, Makino S, Yamamoto Y, Takeda J, Maruyama Y, Seyama R, Takeuchi S, Uchiyama Y, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Matsumoto N. Aoi H, et al. Among authors: uchiyama y. J Hum Genet. 2021 May;66(5):499-507. doi: 10.1038/s10038-020-00869-8. Epub 2020 Nov 3. J Hum Genet. 2021. PMID: 33144663
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tsuburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N. Mizuguchi T, et al. Among authors: uchiyama y. Brain. 2021 May 7;144(4):1103-1117. doi: 10.1093/brain/awab021. Brain. 2021. PMID: 33791773
Novel CLTC variants cause new brain and kidney phenotypes.
Itai T, Miyatake S, Tsuchida N, Saida K, Narahara S, Tsuyusaki Y, Castro MAA, Kim CA, Okamoto N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Mizuguchi T, Matsumoto N. Itai T, et al. Among authors: uchiyama y. J Hum Genet. 2022 Jan;67(1):1-7. doi: 10.1038/s10038-021-00957-3. Epub 2021 Jul 7. J Hum Genet. 2022. PMID: 34230591
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion.
Yamada H, Okanishi T, Okazaki T, Oguri M, Fukuda H, Uchiyama Y, Mizuguchi T, Matsumoto N, Maegaki Y. Yamada H, et al. Among authors: uchiyama y. Brain Dev. 2022 Jan;44(1):68-72. doi: 10.1016/j.braindev.2021.07.007. Epub 2021 Jul 29. Brain Dev. 2022. PMID: 34332824
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Sakamoto M, Sasaki K, Sugie A, Nitta Y, Kimura T, Gürsoy S, Cinleti T, Iai M, Sengoku T, Ogata K, Suzuki A, Okamoto N, Iwama K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Miyatake S, Mizuguchi T, Taguri M, Ito S, Takahashi H, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: uchiyama y. Hum Mol Genet. 2021 Dec 17;31(1):69-81. doi: 10.1093/hmg/ddab224. Hum Mol Genet. 2021. PMID: 34346499
1,215 results