Mariko Taniguchi‐Ikeda

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Mariko Taniguchi‐Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa et al. · Nature · 2011 · 186 citations

Medicine, Genetics, Molecular Genetics +10

Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits

Hiromi Ohtsubo, Taro Okada, Kandai Nozu et al. · Pediatric Nephrology · 2016 · 55 citations · Full text

Medicine, Nephrology, Pathology +12

Biallelic variants in <i>LIG3</i> cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris et al. · Brain · 2021 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo variants in <i>RHOBTB2</i> , an atypical Rho GTPase gene, cause epileptic encephalopathy

Hazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto et al. · Human Mutation · 2018 · 36 citations

Life Sciences, Molecular Biology, Neuroscience +16

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

Rie Kawamura, Takema Kato, Shunsuke Miyai et al. · Journal of Human Genetics · 2020 · 32 citations · Full text

Life Sciences, Genetics, Pathology +16