Concepedia

Satomi Mitsuhashi

SM

Statistics

Publications

93

Citations

5.2K

H-Index

40

Active since

2009

Affiliations

Yokohama City University(Current)

National Center of Neurology and Psychiatry

Yokohama City University Hospital

Hamamatsu University School of Medicine

The University of Tokyo

Satomi Mitsuhashi is an author at Yokohama City University specializing in genetics, life sciences, and molecular genetics.

Publications per year

2009–2023

93

Publications

93

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita et al. · Nature Genetics · 2019 · 509 citations

Life Sciences, Molecular Genetics, Neuroscience +14

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

Yukiko Hayashi, Chie Matsuda, Megumu Ogawa et al. · Journal of Clinical Investigation · 2009 · 393 citations · Full text

Medicine, Biochemistry, Molecular Genetics +15

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

Marlinde L. van den Boogaard, Richard J.L.F. Lemmers, Judit Balog et al. · The American Journal of Human Genetics · 2016 · 272 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi et al. · Genome biology · 2019 · 175 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Homozygous nonsense variant in <i>LRIF1</i> associated with facioscapulohumeral muscular dystrophy

Kohei Hamanaka, Darina Šikrová, Satomi Mitsuhashi et al. · Neurology · 2020 · 151 citations · Full text

Medicine, Genetics, Molecular Genetics +12

1–5 of 93