Yoshinori Tsurusaki

Researcher Name Resolver ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2020
Publications (10 Years): 7

Top Venues

Congenital anomalies

Human genome variation

American journal of medical genetics. Part A

Human mutation

Sagami Women's University

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Sagami Women's University Apr 01 2019

Japan

Associate professor :: Faculty of Nutritional Science

Kanagawa Children's Medical Center Apr 01 2015 - Mar 31 2019

Japan

Senior Researcher :: Clinical Research Institute

Yokohama City Graduate School of Medicine Sep 01 2011 - Mar 31 2015

Japan

Assistant Professor :: Department of Human Genetics

Publications

Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto, Yukiko Kuroda, Takayuki Yokoi, Noritaka Furuya, Hiroshi Yoshihashi, Mari Minatogawa, Chihiro Abe-Hatano, Ikuko Ohashi, Naoto Nishimura, Tatsuro Kumaki, Yumi Enomoto, Takuya Naruto, Fuminori Iwasaki, Noriaki Harada, Aki Ishikawa, Hiroshi Kawame, Kiyoko Sameshima, Yu Yamaguchi, Masahisa Kobayashi, Makiko Tominaga, Satoshi Ishikiriyama, Toshiaki Tanaka, Hiroshi Suzumura, Shinsuke Ninomiya, Akane Kondo, Tadashi Kaname, Kenjiro Kosaki, Mitsuo Masuno, Yoshikazu Kuroki, Kenji Kurosawa
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome. American journal of medical genetics. Part A 182 (10) (2020)
Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou, Ines Brösse, Markus Ries, Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Winnie P Ong, Hui Bein Chew, Kavitha Rethanavelu, Emmanuelle Ranza, Xavier Blanc, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Yoshiteru Azuma, Eriko Koshimizu, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hidehisa Takahashi, Etsuko Miyagi, Yoshinori Tsurusaki, Hiroshi Doi, Masataka Taguri, Stylianos E Antonarakis, Mitsuko Nakashima, Hirotomo Saitsu, Satoko Miyatake, Naomichi Matsumoto
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Human mutation 42 (1) (2020)
Yoshinori Tsurusaki, Jun-Ichi Nagai, Sachio Fujita, Masanaka Sugiyama, Wataru Nakamura, Akiko Hayashi, Naoyuki Miyagawa, Dai Keino, Tomoko Yokosuka, Fuminori Iwasaki, Satoshi Hamanoue, Masae Shiomi, Shoko Goto, Kenji Kurosawa, Hiroaki Goto
Whole-exome sequencing reveals the subclonal expression of NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia. Pediatric blood & cancer 67 (1) (2019)
Hiroaki Murakami, Yumi Enomoto, Yoshinori Tsurusaki, Yoshitsugu Sugio, Kenji Kurosawa
A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12. Congenital anomalies 60 (3) (2019)
Yoshinori Tsurusaki, Yukiko Kuroda, Yasuko Yamanouchi, Eisuke Kondo, Kazunobu Ouchi, Yuichi Kimura, Yumi Enomoto, Noriko Aida, Mitsuo Masuno, Kenji Kurosawa
Novel USP9X variants in two patients with X-linked intellectual disability. Human genome variation 6 (2019)
Yuichi Kimura, Moe Akahira-Azuma, Noriaki Harada, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms. Congenital anomalies 58 (6) (2018)
Yota Sato, Jun Shibasaki, Noriko Aida, Kazuya Hiiragi, Yuichi Kimura, Moe Akahira-Azuma, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly. Human genome variation 5 (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Yoshinori Tsurusaki