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Page 1
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N. Imagawa E, et al. Among authors: seyama r. Clin Genet. 2023 Apr;103(4):383-391. doi: 10.1111/cge.14296. Epub 2023 Jan 25. Clin Genet. 2023. PMID: 36645289 Review.
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. Among authors: seyama r. 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.
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: seyama r. 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
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.
Seyama R, Nishikawa M, Uchiyama Y, Hamada K, Yamamoto Y, Takeda M, Ochi T, Kishi M, Suzuki T, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Yao T, Ito H, Itakura A, Ogata K, Nagata KI, Matsumoto N. Seyama R, et al. Sci Rep. 2023 Jun 16;13(1):9789. doi: 10.1038/s41598-023-36381-0. Sci Rep. 2023. PMID: 37328543 Free PMC article.
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
Ohori S, Miyauchi A, Osaka H, Lourenco CM, Arakaki N, Sengoku T, Ogata K, Honjo RS, Kim CA, Mitsuhashi S, Frith MC, Seyama R, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Saito K, Fujita A, Matsumoto N. Ohori S, et al. Among authors: seyama r. Life Sci Alliance. 2023 Jun 7;6(8):e202302025. doi: 10.26508/lsa.202302025. Print 2023 Aug. Life Sci Alliance. 2023. PMID: 37286232 Free PMC article.
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Seyama R, Uchiyama Y, Ceroni JRM, Kim VEH, Furquim I, Honjo RS, Castro MAA, Pires LVL, Aoi H, Iwama K, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Bertola DR, Kim CA, Matsumoto N. Seyama R, et al. Genomics. 2022 Sep;114(5):110468. doi: 10.1016/j.ygeno.2022.110468. Epub 2022 Aug 27. Genomics. 2022. PMID: 36041635 Free article.
Retrospective study of the recurrence risk of preterm birth in Japan.
Seyama R, Makino S, Nojiri S, Takeda J, Suzuki T, Maruyama Y, Takeda S, Itakura A. Seyama R, et al. J Matern Fetal Neonatal Med. 2022 Feb;35(3):515-519. doi: 10.1080/14767058.2020.1727435. Epub 2020 Feb 18. J Matern Fetal Neonatal Med. 2022. PMID: 32068466
17 results