Kenji Shimizu

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 9

Top Venues

Journal of human genetics

Congenital anomalies

Molecular genetics & genomic medicine

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

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

Publications

Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M Nikkel, Hirofumi Ohashi, Roger E Stevenson, Thuong Ha, Denise P Cavalcanti, Hiroyuki Miyahara, Steven A Skinner, Miguel A Aguirre, Zühal Akçören, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroglu, Hannah W Moore, Raymond J Louie, Peer Arts, Allie N Merrihew, Milena Babic, Matilda R Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher P Barnett, Hamish S Scott, Andrei S Chagin, Gen Nishimura, Giedre Grigelioniene
Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (2023)
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, Sachiko Miyamoto, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome. Journal of human genetics (2023)
Kaori Yamoto, Fumiko Kato, Masaya Yamoto, Koji Fukumoto, Kenji Shimizu, Hirotomo Saitsu, Tsutomu Ogata
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis. Congenital anomalies (2023)
Takuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, Kazushi Aoto, Mitsuko Nakashima, Tomomi Yamaguchi, Tomoki Kosho, Tsutomu Ogata, Hirotomo Saitsu
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing. Journal of human genetics 67 (7) (2022)
Toshiyuki Itai, Zheng Wang, Gen Nishimura, Hirofumi Ohashi, Long Guo, Yasuhiro Wakano, Takahiro Sugiura, Hiromi Hayakawa, Mayumi Okada, Takashi Saisu, Ayana Kitta, Hiroshi Doi, Kenji Kurosawa, Yoshihiro Hotta, Katsuhiro Hosono, Miho Sato, Kenji Shimizu, Kazuharu Takikawa, Seiji Watanabe, Naho Ikeda, Mitsuyoshi Suzuki, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Satoko Miyatake, Noriko Miyake, Naomichi Matsumoto, Shiro Ikegawa
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia. Clinical genetics 102 (1) (2022)
Kazuki Yamazawa, Kenji Shimizu, Hirofumi Ohashi, Hidenori Haruna, Satomi Inoue, Haruka Murakami, Tatsuo Matsunaga, Takeshi Iwata, Kazushige Tsunoda, Kaoru Fujinami
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder. Human genome variation 8 (1) (2021)
Mio Tsuchiya, Takahiro Yamada, Rina Akaishi, Haruka Hamanoue, Akira Hirasawa, Maki Hyodo, Issei Imoto, Tomoki Kosho, Kenji Kurosawa, Hiromi Murakami, Kaname Nakatani, Fumio Nomura, Aiko Sasaki, Kenji Shimizu, Mariko Tamai, Hiroshi Umemura, Atsushi Watanabe, Akiko Yoshida, Hiroshi Yoshihashi, Junko Yotsumoto, Shinji Kosugi
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan. Journal of human genetics 65 (12) (2020)
Kenji Shimizu, Daiju Oba, Ryusuke Nambu, Manabu Tanaka, Eiji Oguma, Kei Murayama, Akira Ohtake, Koh-Ichiro Yoshiura, Hirofumi Ohashi
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation. Molecular genetics & genomic medicine 8 (3) (2020)
Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M White, Mari Matsuo, Kayoko Saito, Shubha Phadke, Tomoki Kosho, Patrick Yap, Manisha Goyal, Lorne A Clarke, Rani Sachdev, George McGillivray, Richard J Leventer, Chirag Patel, Takanori Yamagata, Hitoshi Osaka, Yoshiya Hisaeda, Hirofumi Ohashi, Kenji Shimizu, Keisuke Nagasaki, Junpei Hamada, Sumito Dateki, Takashi Sato, Yasutsugu Chinen, Tomonari Awaya, Takeo Kato, Kougoro Iwanaga, Masahiko Kawai, Takashi Matsuoka, Yoshikazu Shimoji, Tiong Yang Tan, Seema Kapoor, Nerine Gregersen, Massimiliano Rossi, Mathieu Marie-Laure, Lesley McGregor, Kimihiko Oishi, Lakshmi Mehta, Greta Gillies, Paul J Lockhart, Kate Pope, Anju Shukla, Katta Mohan Girisha, Ghada M H Abdel-Salam, David Mowat, David Coman, Ok Hwa Kim, Marie-Pierre Cordier, Kate Gibson, Jeff Milunsky, Jan Liebelt, Helen Cox, Salima El Chehadeh, Annick Toutain, Ken Saida, Hiromi Aoi, Gaku Minase, Naomi Tsuchida, Kazuhiro Iwama, Yuri Uchiyama, Toshifumi Suzuki, Kohei Hamanaka, Yoshiteru Azuma, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Atsushi Takata, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Journal of human genetics 64 (12) (2019)

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Publication Activity (10 Years)

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Kenji Shimizu