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Journal of Human Genetics|November 6, 2025
Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndromeQiaowei Liang, Yuri Uchiyama, Rie Seyama, et al.Journal of Human Genetics|January 11, 2023
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicismRie Seyama, Yuri Uchiyama, Yosuke Kaneshi, et al.BMC Ophthalmology|October 14, 2025
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variantsThainá Vilella, Beatriz Carvalho Nunes, Giulia Steuernagel Del Valle, et al.Journal of Human Genetics|October 16, 2024
Biallelic missense CEP55 variants cause prenatal MARCH syndromeLi Fu, Yuka Yamamoto, Rie Seyama, et al.Journal of Human Genetics|November 1, 2021
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphismsRie Seyama, Naomi Tsuchida, Yasuyuki Okada, et al.Journal of Human Genetics|November 4, 2020
Whole exome sequencing of fetal structural anomalies detected by ultrasonographyHiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, et al.Scientific Reports|June 16, 2023
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL associationRie Seyama, Masashi Nishikawa, Yuri Uchiyama, et al.Genomics|August 30, 2022
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndromeRie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, et al.NPJ Genomic Medicine|March 27, 2026
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discoveryLi Fu, Chong Ae Kim, Masatoshi Tokita, et al.NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.Pageof 3