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Page 1
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, Yap P, Keng WT, Kobayashi H, Takubo K, Okada T, Saitoh S, Yasuda Y, Murai T, Nakamura K, Ohga S, Matsumoto A, Inoue K, Saikusa T, Hershkovitz T, Kobayashi Y, Morikawa M, Ito A, Hara T, Uno Y, Seiwa C, Ishizuka K, Shirahata E, Fujita A, Koshimizu E, Miyatake S, Takata A, Mizuguchi T, Ozaki N, Matsumoto N. Miyake N, et al. Eur J Hum Genet. 2024 Dec;32(12):1551-1558. doi: 10.1038/s41431-023-01335-7. Epub 2023 Mar 27. Eur J Hum Genet. 2024. PMID: 36973392
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
Fukuda H, Mizuguchi T, Doi H, Kameyama S, Kunii M, Joki H, Takahashi T, Komiya H, Sasaki M, Miyaji Y, Ohori S, Koshimizu E, Uchiyama Y, Tsuchida N, Fujita A, Hamanaka K, Misawa K, Miyatake S, Tanaka F, Matsumoto N. Fukuda H, et al. J Hum Genet. 2023 Oct;68(10):689-697. doi: 10.1038/s10038-023-01170-0. Epub 2023 Jun 12. J Hum Genet. 2023. PMID: 37308565
Distal 2q duplication in a patient with intellectual disability.
Suzuki T, Osaka H, Miyake N, Fujita A, Uchiyama Y, Seyama R, Koshimizu E, Miyatake S, Mizuguchi T, Takeda S, Matsumoto N. Suzuki T, et al. Hum Genome Var. 2022 Nov 10;9(1):39. doi: 10.1038/s41439-022-00215-8. Hum Genome Var. 2022. PMID: 36357380 Free PMC article.