Satomi Mitsuhashi
Tokyo Medical and Dental University
H-index: 37
Asia-Japan
Top articles of Satomi Mitsuhashi
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy | Kei Kaburagi Yuta Hagiwara Keiji Tachikawa Noriko Miyake Hisanao Akiyama | 2023/5/23 | |
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions | The Journal of Molecular Diagnostics | Keiji Tachikawa Takahiro Shimizu Takeshi Imai Riyoko Ko Yosuke Kawai | 2024/2/1 |
Large-Scale Whole-Genome Analysis of HTLV-1–Associated Myelopathy Identified Hereditary Spastic Paraplegias | Neurology: Genetics | Naoki Takao Naoko Yagishita Natsumi Araya Satoko Aratani Junji Yamauchi | 2024/1/29 |
KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties | Annals of Neurology | Maria Cristina Cioclu Ilaria Mosca Paolo Ambrosino Deborah Puzo Allan Bayat | 2023 |
Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants | Brain and Development | Shiena Watanabe Ming Lei Eiji Nakagawa Eri Takeshita Kei-Ichiro Inamori | 2023/5/1 |
Analysis of tandem repeat expansions using long DNA reads | Satomi Mitsuhashi Martin C Frith | 2023/2/14 | |
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy | Life Science Alliance | Sachiko Ohori Akihiko Miyauchi Hitoshi Osaka Charles Marques Lourenco Naohiro Arakaki | 2023/8/1 |
Detecting the NOTCH2NLC Repeat Expansion in Neuronal Intranuclear Inclusion Disease | Satomi Mitsuhashi Atsushi Fujita Naomichi Matsumoto | 2022/6/1 | |
Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology | Science advances | Koyo Tsujikawa Kohei Hamanaka Yuichi Riku Yuki Hattori Norikazu Hara | 2022/5/25 |
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants | Genome Medicine | Kohei Hamanaka Noriko Miyake Takeshi Mizuguchi Satoko Miyatake Yuri Uchiyama | 2022/4/26 |
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases | Journal of Human Genetics | Daiki Kato Satomi Mitsuhashi Fuyuki Miya Shinji Saitoh Nobuhiko Okamoto | 2022/12 |
Finding rearrangements in nanopore DNA reads with last and dnarrange | Martin C Frith Satomi Mitsuhashi | 2022/11/24 | |
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment | Brain | Takeshi Mizuguchi Tomoko Toyota Satoko Miyatake Satomi Mitsuhashi Hiroshi Doi | 2021/4/1 |
Prenatal clinical manifestations in individuals with COL4A1/2 variants | Journal of Medical Genetics | Toshiyuki Itai Satoko Miyatake Masataka Taguri Fumihito Nozaki Masayasu Ohta | 2021/8/1 |
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy | Journal of Human Genetics | Masamune Sakamoto Kazuhiro Iwama Futoshi Sekiguchi Hideaki Mashimo Satoko Kumada | 2021/4 |
Plasmid analysis of NDM metallo-β-lactamase-producing Enterobacterales isolated in Vietnam | PLoS One | Aki Hirabayashi Koji Yahara Satomi Mitsuhashi So Nakagawa Tadashi Imanishi | 2021/7/28 |
Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells | Human Molecular Genetics | Satomi Mitsuhashi So Nakagawa Mitsuru Sasaki-Honda Hidetoshi Sakurai Martin C Frith | 2021/4/1 |
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder | Journal of Human Genetics | Sachiko Ohori Rie S Tsuburaya Masako Kinoshita Etsuko Miyagi Takeshi Mizuguchi | 2021/7 |
lamassemble: Multiple alignment and consensus sequence of long reads | Multiple Sequence Alignment: Methods and Protocols | Martin C Frith Satomi Mitsuhashi Kazutaka Katoh | 2021 |
Whole exome sequencing of fetal structural anomalies detected by ultrasonography | Journal of Human Genetics | Hiromi Aoi Takeshi Mizuguchi Toshifumi Suzuki Shintaro Makino Yuka Yamamoto | 2021/5 |
