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Yoshinori Tsurusaki
Researcher at Sagami Women's University
Publications - 197
Citations - 8661
Yoshinori Tsurusaki is an academic researcher from Sagami Women's University. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 48, co-authored 189 publications receiving 7305 citations. Previous affiliations of Yoshinori Tsurusaki include Jikei University School of Medicine & Yokohama City University.
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Journal ArticleDOI
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Yoshinori Tsurusaki,Nobuhiko Okamoto,Hirofumi Ohashi,Tomoki Kosho,Yoko Imai,Yumiko Hibi-Ko,Tadashi Kaname,Kenji Naritomi,Hiroshi Kawame,Hiroshi Kawame,Keiko Wakui,Yoshimitsu Fukushima,Tomomi Homma,Mitsuhiro Kato,Yoko Hiraki,Takanori Yamagata,Shoji Yano,Seiji Mizuno,Satoru Sakazume,Takuma Ishii,Toshiro Nagai,Masaaki Shiina,Kazuhiro Ogata,Tohru Ohta,Norio Niikawa,Satoko Miyatake,Ippei Okada,Takeshi Mizuguchi,Hiroshi Doi,Hirotomo Saitsu,Noriko Miyake,Naomichi Matsumoto +31 more
TL;DR: By exome sequencing, de novo SMARCB1 mutations are found in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome.
Journal ArticleDOI
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
Hirotomo Saitsu,Taki Nishimura,Taki Nishimura,Kazuhiro Muramatsu,Hirofumi Kodera,Satoko Kumada,Kenji Sugai,Emi Kasai-Yoshida,Noriko Sawaura,Hiroya Nishida,Ai Hoshino,Fukiko Ryujin,Seiichiro Yoshioka,Kiyomi Nishiyama,Yukiko Kondo,Yoshinori Tsurusaki,Mitsuko Nakashima,Noriko Miyake,Hirokazu Arakawa,Mitsuhiro Kato,Noboru Mizushima,Noboru Mizushima,Naomichi Matsumoto +22 more
TL;DR: Findings provide direct evidence that an autophagy defect is indeed associated with a neurodegenerative disorder in humans.
Journal ArticleDOI
Human genetic variation database, a reference database of genetic variations in the Japanese population.
Koichiro Higasa,Noriko Miyake,Jun Yoshimura,Kohji Okamura,Tetsuya Niihori,Hirotomo Saitsu,Koichiro Doi,Masakazu Shimizu,Kazuhiko Nakabayashi,Yoko Aoki,Yoshinori Tsurusaki,Shinichi Morishita,Takahisa Kawaguchi,Osuke Migita,Keiko Nakayama,Mitsuko Nakashima,Jun Mitsui,Maiko Narahara,Keiko Hayashi,Ryo Funayama,Daisuke Yamaguchi,Hiroyuki Ishiura,Wen Ya Ko,Wen Ya Ko,Kenichiro Hata,Takeshi Nagashima,Ryo Yamada,Yoichi Matsubara,Akihiro Umezawa,Shoji Tsuji,Naomichi Matsumoto,Fumihiko Matsuda +31 more
TL;DR: The results illustrate the importance of constructing an ethnicity-specific reference genome for identifying rare variants and constructed a Japanese-specific major allele reference genome, by which the number of unique mapping of the short reads in the data has increased 0.045% on average.
Journal ArticleDOI
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.
Satoko Miyatake,Noriko Miyake,H. Touho,Akira Nishimura-Tadaki,Yukiko Kondo,Ippei Okada,Yoshinori Tsurusaki,Hiroshi Doi,Haruya Sakai,Hirotomo Saitsu,Keiko Shimojima,Toshiyuki Yamamoto,M. Higurashi,N. Kawahara,H. Kawauchi,Kazunori Nagasaka,Nobuhiko Okamoto,T. Mori,Shigeru Koyano,Yoshiyuki Kuroiwa,Masataka Taguri,Satoshi Morita,Yoichi Matsubara,Shigeo Kure,Naomichi Matsumoto +24 more
TL;DR: The homozygous c.14576G>A variant in RNF213 could be a good DNA biomarker for predicting the severe type of MMD, for which early medical/surgical intervention is recommended, and may provide a better monitoring and prevention strategy.
Journal ArticleDOI
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Mitsuhiro Kato,Takanori Yamagata,Masaya Kubota,Hiroshi Arai,Sumimasa Yamashita,Taku Nakagawa,Takanari FujII,Kenji Sugai,Kaoru Imai,Tami Uster,David Chitayat,Shelly K. Weiss,Hirofumi Kashii,Ryosuke Kusano,Ayumi Matsumoto,Kazuyuki Nakamura,Kazuyuki Nakamura,Yoshinobu Oyazato,Mari Maeno,Kiyomi Nishiyama,Hirofumi Kodera,Mitsuko Nakashima,Yoshinori Tsurusaki,Noriko Miyake,Kayoko Saito,Kiyoshi Hayasaka,Naomichi Matsumoto,Hirotomo Saitsu +27 more
TL;DR: The clinical spectrum of EOEE associated with KCNQ2 mutation is delineated in patients with benign familial neonatal seizures, myokymia, or early onset epileptic encephalopathy (EOEE).