Shinji Ono

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

Yuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake et al. · Nature Genetics · 2012 · 210 citations · Full text

Genome Instability, Genetic Disorder, Medicine +6

Nonsense mutation in <i>CFAP43</i> causes normal-pressure hydrocephalus with ciliary abnormalities

Yoshiro Morimoto, Shintaro Yoshida, Akira Kinoshita et al. · Neurology · 2019 · 101 citations · Full text

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Shinji Ono, Koh-ichiro Yoshiura, Akira Kinoshita et al. · Journal of Human Genetics · 2012 · 93 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +6

Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred

Shinji Ono, Takahiro Tanaka, Masaki Ishida et al. · European Respiratory Journal · 2011 · 84 citations · Full text

DNA Methylation Signatures of Peripheral Leukocytes in Schizophrenia

Makoto Kinoshita, Shusuke Numata, Atsushi Tajima et al. · NeuroMolecular Medicine · 2012 · 77 citations

Chromatin, Epigenetic Change, Genetics +8