Satomi Mitsuhashi
0000-0002-5036-6858
Publication & Citation Trends
Most Cited Works
Publications
196 total
Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer
Cited by 1
Semantic Scholar
A case of vertebral artery stump syndrome with bilateral vertebral artery origin occlusion
Cited by 0
Semantic Scholar
Large-Scale Whole-Genome Analysis of HTLV-1–Associated Myelopathy Identified Hereditary Spastic Paraplegias OA
Cited by 1
Semantic Scholar
CRISPR Diagnostics for Quantification and Rapid Diagnosis of Myotonic Dystrophy Type 1 Repeat Expansion Disorders
Cited by 3
Semantic Scholar
Targeted nanopore sequencing using the Flongle device to identify mitochondrial DNA variants OA
Cited by 4
Semantic Scholar
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy OA
Cited by 0
Semantic Scholar
A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy OA
Cited by 1
Semantic Scholar
Analysis of Tandem Repeat Expansions Using Long DNA Reads.
Cited by 1
Semantic Scholar
Research Topics
Muscle Physiology and Disorders
(50)
Mitochondrial Function and Pathology
(31)
Genetic Neurodegenerative Diseases
(29)
RNA modifications and cancer
(24)
RNA Research and Splicing
(23)
Frequent Co-Authors
Affiliations
Showa University
Tokyo Medical and Dental University
Boston Children's Hospital
Tokai University
Hudson Institute