Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders. Journal of Human Genetics. 2024. 69. 2. 69-77
Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto, Araujo Castro, Rachel Sayuri Honjo, Debora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, et al. Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Journal of Human Genetics. 2024. 69. 69, pages163-167. 163-167
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. 2024. 69. 3-4. 153-157
三澤 計治, 大槻 涼. A simple method for estimating time-irreversible nucleotide substitution rates in the SARS-CoV-2 genome. NAR Genomics and Bioinformatics. 2024. 6. 1. lqae009
Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, et al. Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese. Journal of Neurology, Neurosurgery, and Psychiatry. 2024