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Works (6)

RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing

Journal of Human Genetics
2024-02 | Journal article
DOI: 10.1038/s10038-023-01211-8
Contributors: Ryota Kawakami; Takuya Hiraide; Kazuki Watanabe; Sachiko Miyamoto; Kota Hira; Kazuyuki Komatsu; Hidetoshi Ishigaki; Kimiyoshi Sakaguchi; Masato Maekawa; Keita Yamashita et al.
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A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1

Human Genome Variation
2023-11-22 | Journal article
DOI: 10.1038/s41439-023-00256-7
Contributors: Kazuki Watanabe; Kazuo Kubota; Mitsuko Nakashima; Hirotomo Saitsu
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Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4

2022-07-28 | Preprint
DOI: 10.1101/2022.07.26.501446
Contributors: Michio Inoue; Satoru Noguchi; Yukiko U. Inoue; Aritoshi Iida; Megumu Ogawa; Rocio Bengoechea; Sara K. Pittman; Shinichiro Hayashi; Kazuki Watanabe; Yasushi Hosoi et al.
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Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo

Neurology Genetics
2022-06 | Journal article
DOI: 10.1212/NXG.0000000000000682
Contributors: Kazuki Watanabe; Mitsuko Nakashima; Rie Wakatsuki; Tomoyasu Bunai; Yasuomi Ouchi; Tomohiko Nakamura; Hiroaki Miyajima; Hirotomo Saitsu
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A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia

Human Genome Variation
2022-06-03 | Journal article
DOI: 10.1038/s41439-022-00198-6
Contributors: Marina Hashiguchi; Yukifumi Monden; Yasuyuki Nozaki; Kazuki Watanabe; Mitsuko Nakashima; Hirotomo Saitsu; Takanori Yamagata; Hitoshi Osaka
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Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review

Journal of Human Genetics
2021-12 | Journal article
DOI: 10.1038/s10038-021-00956-4
Contributors: Kazuki Watanabe; Mitsuko Nakashima; Satoko Kumada; Hideaki Mashimo; Mikako Enokizono; Keitaro Yamada; Mitsuhiro Kato; Hirotomo Saitsu
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