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572 results

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Page 1
Biallelic missense CEP55 variants cause prenatal MARCH syndrome.
Fu L, Yamamoto Y, Seyama R, Matsuzawa N, Nagaoka M, Yao T, Hamada K, Ogata K, Suzuki T, Tsuchida N, Uchiyama Y, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Fujita A, Itakura A, Matsumoto N. Fu L, et al. Among authors: miyatake s. J Hum Genet. 2024 Oct 16. doi: 10.1038/s10038-024-01298-7. Online ahead of print. J Hum Genet. 2024. PMID: 39414989
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: miyatake s. 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
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: miyatake s. 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
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: miyatake s. Hum Mol Genet. 2021 Dec 17;31(1):69-81. doi: 10.1093/hmg/ddab224. Hum Mol Genet. 2021. PMID: 34346499
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms.
Seyama R, Tsuchida N, Okada Y, Sakata S, Hamada K, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mizuguchi T, Makino S, Itakura A, Okada S, Okamoto N, Ogata K, Uchiyama Y, Matsumoto N. Seyama R, et al. Among authors: miyatake s. J Hum Genet. 2022 Mar;67(3):157-164. doi: 10.1038/s10038-021-00986-y. Epub 2021 Nov 1. J Hum Genet. 2022. PMID: 34719681
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: miyatake s. Clin Genet. 2023 May;103(5):590-595. doi: 10.1111/cge.14292. Epub 2023 Jan 7. Clin Genet. 2023. PMID: 36576140
572 results