Kenji Kurosawa

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 59

Top Topics

Histone Deacetylase

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Human genome variation

Congenital anomalies

Journal of human genetics

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

Publications

Yukiko Kuroda, Takuya Naruto, Kenji Kurosawa
Subtle phenotypes of Mowat-Wilson syndrome in a patient with a novel ZEB2 C-ZF domain variant. American journal of medical genetics. Part A (2024)
Yasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Koji Muroya, Kenji Kurosawa
Noonan syndrome-like phenotype associated with an ERF frameshift variant. American journal of medical genetics. Part A 194 (9) (2024)
Yukiko Kuroda, Azusa Ikeda, Takuya Naruto, Kenji Kurosawa
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant. American journal of medical genetics. Part A 194 (7) (2024)
Takeshi Uehara, Eijun Seki, Yutaka Nonoda, Tatsuro Kumaki, Yu Tsuyusaki, Noriko Aida, Yumi Enomoto, Kenji Ishikura, Kenji Kurosawa
Two siblings with acute necrotizing encephalopathy associated with variants of LARS1. American journal of medical genetics. Part A (2024)
Yukiko Kuroda, Takuya Naruto, Yu Tsuyusaki, Ayumi Kato, Noriko Aida, Kenji Kurosawa
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7. Journal of human genetics 69 (7) (2024)
Yukiko Kuroda, Takeshi Uehara, Yumi Enomoto, Takuya Naruto, Nozomi Matsumura, Kenji Kurosawa
GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis. American journal of medical genetics. Part A (2024)
Yasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Koji Muroya, Kenji Kurosawa
Noonan syndrome-like phenotype associated with an ERF frameshift variant. American journal of medical genetics. Part A 194 (9) (2024)
Yasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Koji Muroya, Kenji Kurosawa
Noonan syndrome-like phenotype associated with an ERF frameshift variant. American journal of medical genetics. Part A (2024)
Yukiko Kuroda, Takuya Naruto, Yu Tsuyusaki, Ayumi Kato, Noriko Aida, Kenji Kurosawa
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7. Journal of human genetics (2024)
Yukiko Kuroda, Takuya Naruto, Yu Tsuyusaki, Ayumi Kato, Noriko Aida, Kenji Kurosawa
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7. Journal of human genetics 69 (7) (2024)
Yukiko Kuroda, Azusa Ikeda, Takuya Naruto, Kenji Kurosawa
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant. American journal of medical genetics. Part A (2024)
Yasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Koji Muroya, Kenji Kurosawa
Noonan syndrome-like phenotype associated with an ERF frameshift variant. American journal of medical genetics. Part A 194 (9) (2024)
Yukiko Kuroda, Azusa Ikeda, Takuya Naruto, Kenji Kurosawa
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant. American journal of medical genetics. Part A 194 (7) (2024)
Hiroaki Murakami, Yumi Enomoto, Tatsuro Kumaki, Noriko Aida, Kenji Kurosawa
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1. Journal of human genetics (2023)
Yukiko Kuroda, Yoko Saito, Yumi Enomoto, Takuya Naruto, Kenji Kurosawa
A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant. American journal of medical genetics. Part A (2023)
Masamune Sakamoto, Kenji Kurosawa, Koji Tanoue, Kazuhiro Iwama, Fumihiko Ishida, Yoshihiro Watanabe, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities. Journal of human genetics (2023)
Yukiko Kuroda, Mayumi Matsufuji, Yumi Enomoto, Hitoshi Osaka, Jun-Ichi Takanashi, Toshiyuki Yamamoto, Yurika Numata-Uematsu, Kenshiro Tabata, Kenji Kurosawa, Ken Inoue
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy. American journal of medical genetics. Part A (2023)
Yukiko Kuroda, Yoko Saito, Yumi Enomoto, Takuya Naruto, Jun Mitsui, Kenji Kurosawa
PHACES-like syndrome with TMEM260 compound heterozygous variants. American journal of medical genetics. Part A (2023)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A (2022)
Yumi Enomoto, Takayuki Yokoi, Yoshinori Tsurusaki, Hiroaki Murakami, Makiko Tominaga, Mari Minatogawa, Chihiro Abe-Hatano, Yukiko Kuroda, Ikuko Ohashi, Kazumi Ida, Shizuka Shiiya, Tatsuro Kumaki, Takuya Naruto, Jun Mitsui, Noriaki Harada, Yasuhiro Kido, Kenji Kurosawa
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing. Clinical genetics 101 (3) (2022)
Minako Takagi, Shin Ono, Tatsuro Kumaki, Naoto Nishimura, Hiroaki Murakami, Yumi Enomoto, Takuya Naruto, Hideaki Ueda, Kenji Kurosawa
Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder. American journal of medical genetics. Part A 191 (3) (2022)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A 191 (3) (2022)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A (2022)
Moe Akahira-Azuma, Yumi Enomoto, Naoyuki Nakamura, Takayuki Yokoi, Mari Minatogawa, Noriaki Harada, Yoshinori Tsurusaki, Kenji Kurosawa
Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita. Human genome variation 9 (1) (2022)
Minako Takagi, Shin Ono, Tatsuro Kumaki, Naoto Nishimura, Hiroaki Murakami, Yumi Enomoto, Takuya Naruto, Hideaki Ueda, Kenji Kurosawa
Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder. American journal of medical genetics. Part A 191 (3) (2022)
Kenta Shono, Yumi Enomoto, Yoshinori Tsurusaki, Tatsuro Kumaki, Mitsuo Masuno, Kenji Kurosawa
Further delineation of SET-related intellectual disability syndrome. American journal of medical genetics. Part A 188 (5) (2022)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A 191 (3) (2022)
Yutaka Negishi, Kenji Kurosawa, Kyoko Takano, Keiko Matsubara, Takeshi Nishiyama, Shinji Saitoh
A nationwide survey of Schaaf-Yang syndrome in Japan. Journal of human genetics 67 (12) (2022)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A 191 (3) (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)
Minako Takagi, Shin Ono, Tatsuro Kumaki, Naoto Nishimura, Hiroaki Murakami, Yumi Enomoto, Takuya Naruto, Hideaki Ueda, Kenji Kurosawa
Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder. American journal of medical genetics. Part A 191 (3) (2022)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A 191 (3) (2022)
Minako Takagi, Shin Ono, Tatsuro Kumaki, Naoto Nishimura, Hiroaki Murakami, Yumi Enomoto, Takuya Naruto, Hideaki Ueda, Kenji Kurosawa
Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder. American journal of medical genetics. Part A (2022)
Tomohiro Wakabayashi, Shinobu Fukumura, Satoru Takahashi, Kenji Kurosawa, Shuichi Miyamoto, Kosuke Tsuchida, Shinsuke Kato, Takeshi Tsugawa, Yoshiyuki Sakai, Yukihiko Kawasaki
Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome. Neurology 97 (2) (2021)
Satomi Mori, Koji Tanoue, Hiroyuki Shimizu, Hiroyuki Nagafuchi, Ki-Sung Kim, Hiroaki Murakami, Kenji Kurosawa, Kiyoshi Matsui
Lung disease due to FLNA mutation improved after shunt closure for congenital heart disease. Pediatric pulmonology 56 (5) (2021)
Kaori Hara-Isono, Keiko Matsubara, Riku Hamada, Shun Shimada, Tomomi Yamaguchi, Keiko Wakui, Osamu Miyazaki, Koji Muroya, Kenji Kurosawa, Maki Fukami, Tsutomu Ogata, Tomoki Kosho, Masayo Kagami
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2. Journal of human genetics 66 (11) (2021)
Takayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism. Congenital anomalies 61 (3) (2021)
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)
Naoto Nishimura, Hiroaki Murakami, Tomoko Hayashi, Hironobu Sato, Kenji Kurosawa
Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9. Congenital anomalies 60 (5) (2020)
Nao Takizaki, Yoshinori Tsurusaki, Kaoru Katsumata, Yumi Enomoto, Hiroaki Murakami, Koji Muroya, Hiroshi Ishikawa, Noriko Aida, Gen Nishimura, Kenji Kurosawa
Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome. Human genome variation 7 (2020)
Hiroaki Murakami, Norito Tamura, Yumi Enomoto, Kentaro Shimasaki, Kenji Kurosawa, Kentaro Hanada
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT. PloS one 15 (12) (2020)
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)
Shoko Ikeda, Chika Akamatsu, Akifumi Ijuin, Ami Nagashima, Megumi Sasaki, Akihiko Mochizuki, Hiromi Nagase, Yumi Enomoto, Yukiko Kuroda, Kenji Kurosawa, Hiroshi Ishikawa
Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2. Human genome variation 7 (2020)
Naoto Nishimura, Tatsuro Kumaki, Hiroaki Murakami, Yumi Enomoto, Kaoru Katsumata, Katsuaki Toyoshima, Kenji Kurosawa
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant. Human genome variation 7 (2020)
Takayuki Yokoi, Yumi Enomoto, Tomoko Uehara, Kenjiro Kosaki, Kenji Kurosawa
A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing. Human genome variation 7 (2020)
Takayuki Yokoi, Yumi Enomoto, Takuya Naruto, Kenji Kurosawa, Norimichi Higurashi
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder. Human genome variation 7 (2020)
Yukiko Kuroda, Yuichi Kimura, Tomoko Uehara, Kenjiro Kosaki, Kenji Kurosawa
Refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability. Congenital anomalies (2019)
Hiroaki Murakami, Yuichi Kimura, Yumi Enomoto, Yoshinori Tsurusaki, Moe Akahira-Azuma, Yukiko Kuroda, Megumi Tsuji, Tomohide Goto, Kenji Kurosawa
Discordant phenotype caused by CASK mutation in siblings with NF1. Human genome variation 6 (2019)
Eijun Seki, Keisuke Enomoto, Koji Tanoue, Mio Tanaka, Kenji Kurosawa
Tracheal cartilaginous sleeve in patients with Beare-Stevenson syndrome. Congenital anomalies 60 (3) (2019)
Makiko Tominaga, Toshiyuki Saito, Mitsuo Masuno, You Umeda, Kenji Kurosawa
Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13. Congenital anomalies (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)
Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Yoshinori Tsurusaki, Yukiko Kuroda, Hiroshi Ishikawa, Makiko Ohyama, Noriko Aida, Gen Nishimura, Kenji Kurosawa
A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2. Human genome variation 6 (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)
Iku Taguchi, Takahiro Yamada, Rina Akaishi, Issei Imoto, Kenji Kurosawa, Kaname Nakatani, Fumio Nomura, Haruka Hamanoue, Maki Hyodo, Hiromi Murakami, Hiroshi Yoshihashi, Junko Yotsumoto, Shinji Kosugi
Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan. Journal of human genetics 64 (9) (2019)
Naoto Nishimura, Hiroaki Murakami, Toshiyuki Saito, Mitsuo Masuno, Kenji Kurosawa
Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73. Congenital anomalies 60 (4) (2019)
Makiko Tominaga, Satoshi Hamanoue, Hiroaki Goto, Toshiyuki Saito, Jun-Ichi Nagai, Mitsuo Masuno, You Umeda, Kenji Kurosawa
Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5. 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)
Hiroko Shimbo, Tatsuki Oyoshi, Kenji Kurosawa
Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9. Congenital anomalies 58 (1) (2017)