Satomi Mitsuhashi

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

Fumiaki Tanaka, Hiroshi Doi, Martin C Frith, 2019, Nature Genetics.

A pipeline for complete characterization of complex germline rearrangements from long DNA reads

Martin C. Frith, Kazutaka Katoh, Naomichi Matsumoto, 2020, Genome Medicine.

Long-read sequencing for rare human genetic diseases

Naomichi Matsumoto, N. Matsumoto, S. Mitsuhashi, 2019, Journal of Human Genetics.

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

Martin C. Frith, Naomichi Matsumoto, Yoshihiro Kino, 2019, Genome Biology.