日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy

通过长读测序检测癫痫中 FGF12 内的双等位基因结构变异

Sachiko Ohori, Akihiko Miyauchi, Hitoshi Osaka, Charles Marques Lourenco, Naohiro Arakaki, Toru Sengoku, Kazuhiro Ogata, Rachel Sayuri Honjo, Chong Ae Kim, Satomi Mitsuhashi, Martin C Frith, Rie Seyama, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake,

Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells

纳米孔直接 RNA 测序检测人类肌肉细胞中 DUX4 激活的重复序列和异构体

Satomi Mitsuhashi, So Nakagawa, Mitsuru Sasaki-Honda, Hidetoshi Sakurai, Martin C Frith, Hiroaki Mitsuhashi

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4

长读长DNA测序全面表征了一名患有Langer-Giedion综合征和Cornelia de Lange综合征-4的患者的染色体碎裂现象。

Ming Lei #,Desheng Liang #,Yifeng Yang #,Satomi Mitsuhashi,Kazutaka Katoh,Noriko Miyake,Martin C Frith,Lingqian Wu,Naomichi Matsumoto

Biallelic COLGALT1 variants are associated with cerebral small vessel disease

双等位基因 COLGALT1 变异与脑小血管病有关

Satoko Miyatake, Sacha Schneeberger, Norihisa Koyama, Kenji Yokochi, Kayo Ohmura, Masaaki Shiina, Harushi Mori, Eriko Koshimizu, Eri Imagawa, Yuri Uchiyama, Satomi Mitsuhashi, Martin C Frith, Atsushi Fujita, Mai Satoh, Masataka Taguri, Yasuko Tomono, Keita Takahashi, Hiroshi Doi, Hideyuki Takeuchi, 

Nanopore sequencing of drug-resistance-associated genes in malaria parasites, Plasmodium falciparum

疟原虫恶性疟原虫耐药性相关基因的纳米孔测序

Lucky R Runtuwene, Josef S B Tuda, Arthur E Mongan, Wojciech Makalowski, Martin C Frith, Mallika Imwong, Suttipat Srisutham, Lan Anh Nguyen Thi, Nghia Nguyen Tuan, Yuki Eshita, Ryuichiro Maeda, Junya Yamagishi, Yutaka Suzuki

Sequencing and phasing cancer mutations in lung cancers using a long-read portable sequencer

利用长读长便携式测序仪对肺癌中的癌症突变进行测序和定相

Ayako Suzuki,Mizuto Suzuki,Junko Mizushima-Sugano,Martin C Frith,Wojciech Makalowski,Takashi Kohno,Sumio Sugano,Katsuya Tsuchihara,Yutaka Suzuki

Clusters of internally primed transcripts reveal novel long noncoding RNAs

内部引发的转录本簇揭示了新的长链非编码 RNA

Masaaki Furuno, Ken C Pang, Noriko Ninomiya, Shiro Fukuda, Martin C Frith, Carol Bult, Chikatoshi Kai, Jun Kawai, Piero Carninci, Yoshihide Hayashizaki, John S Mattick, Harukazu Suzuki