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3,214 results

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Page 1
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Uchiyama Y, et al. Among authors: sakamoto m. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33131168
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. Hum Mol Genet. 2021 Dec 17;31(1):69-81. doi: 10.1093/hmg/ddab224. Hum Mol Genet. 2021. PMID: 34346499
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
Saida K, Tamaoki J, Sasaki M, Haniffa M, Koshimizu E, Sengoku T, Maeda H, Kikuchi M, Yokoyama H, Sakamoto M, Iwama K, Sekiguchi F, Hamanaka K, Fujita A, Mizuguchi T, Ogata K, Miyake N, Miyatake S, Kobayashi M, Matsumoto N. Saida K, et al. Among authors: sakamoto m. Clin Genet. 2021 Dec;100(6):722-730. doi: 10.1111/cge.14066. Epub 2021 Oct 7. Clin Genet. 2021. PMID: 34569062
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N. Hamanaka K, et al. Among authors: sakamoto m. Genome Med. 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. Genome Med. 2022. PMID: 35468861 Free PMC article.
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Inoue Y, Tsuchida N, Okamoto N, Shuichi S, Ohashi K, Saitoh S, Ogawa A, Hamada K, Sakamoto M, Miyake N, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mizuguchi T, Ogata K, Uchiyama Y, Matsumoto N. Inoue Y, et al. Among authors: sakamoto m. Clin Genet. 2023 May;103(5):590-595. doi: 10.1111/cge.14292. Epub 2023 Jan 7. Clin Genet. 2023. PMID: 36576140
3,214 results