Toshiki Takenouchi

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 38

Top Topics

Dna Methylation

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Human genome variation

Scientific reports

Molecular genetics & genomic medicine

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

Publications

Tomoyo Yamashita, Junko Hotta, Yukiko Jogu, Eri Sakai, Chie Ono, Haruka Bamba, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Kenjiro Kosaki, Tohru Yorifuji, Takashi Hamazaki, Toshiyuki Seto
Oculofaciocardiodental syndrome caused by a novel BCOR variant. Human genome variation 10 (1) (2023)
Keisuke Watanabe, Atsuko Noguchi, Ikuko Takahashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Tsutomu Takahashi
Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3. Human genome variation 9 (1) (2022)
Tomohiro Inoguchi, Toshiki Takenouchi, Fumito Yamazaki, Yasushi Kondo, Hiroto Mitamura, Kenjiro Kosaki, Takao Takahashi
Neuropsychiatric systemic lupus erythematosus in a girl with neurocutaneous melanosis caused by a somatic mutation in NRAS. Rheumatology (Oxford, England) 61 (8) (2022)
Kodai Abe, Yasuaki Kabe, Susumu Uchiyama, Yuka W Iwasaki, Hirotsugu Ishizu, Yoshifumi Uwamino, Toshiki Takenouchi, Shunsuke Uno, Makoto Ishii, Takahiro Maruno, Masanori Noda, Mitsuru Murata, Naoki Hasegawa, Hideyuki Saya, Yuko Kitagawa, Koichi Fukunaga, Masayuki Amagai, Haruhiko Siomi, Makoto Suematsu, Kenjiro Kosaki, null null
Pro108Ser mutation of SARS-CoV-2 3CL pro reduces the enzyme activity and ameliorates the clinical severity of COVID-19. Scientific reports 12 (1) (2022)
Yurie Ogura, Tomoko Uehara, Kota Ujibe, Hiroshi Yoshihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Hiromi Hirata
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant. American journal of medical genetics. Part A 188 (4) (2022)
Mamiko Yamada, Masae Ono, Tomohiro Ishii, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants. American journal of medical genetics. Part A 185 (6) (2021)
Mamiko Yamada, Kazumi Kubota, Atsuro Uchida, Tatsuhiko Yagihashi, Masahito Kawasaki, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Hiroshi Kurosaka, Kenjiro Kosaki
Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder. American journal of medical genetics. Part A 185 (5) (2021)
Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Tomohiro Chiyonobu
Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants. Human genome variation 8 (1) (2021)
Kimiko Ueda, Atsushi Araki, Atsushi Fujita, Naomichi Matsumoto, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Nobuhiko Okamoto
A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30. Human genome variation 8 (1) (2021)
Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Ayano Inui, Masako Ikemiyagi, Isamu Kamimaki, Kenjiro Kosaki
Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1. American journal of medical genetics. Part A 182 (7) (2020)
Mamiko Yamada, Tatsuyuki Sokoda, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Tatsuhiko Yagihashi, Yoshihiro Maruo, Kenjiro Kosaki
Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript. American journal of medical genetics. Part A 182 (12) (2020)
Rika Kosaki, Masaya Kubota, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki
Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes. American journal of medical genetics. Part A 182 (7) (2020)
Hisato Suzuki, Mamiko Yamada, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki
Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients. American journal of medical genetics. Part A 182 (11) (2020)
Yuri Sakaguchi, Hiroshi Yoshihashi, Tomoko Uehara, Sahoko Miyama, Kenjiro Kosaki, Toshiki Takenouchi
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. American journal of medical genetics. Part A 185 (3) (2020)
Hisato Suzuki, Mie Inaba, Mamiko Yamada, Tomoko Uehara, Toshiki Takenouchi, Seiji Mizuno, Kenjiro Kosaki, Motomichi Doi
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. American journal of medical genetics. Part A 185 (4) (2020)
Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki
Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome. American journal of medical genetics. Part A 182 (11) (2020)
Yohei Takeshita, Tatsuyuki Ohto, Takashi Enokizono, Mai Tanaka, Hisato Suzuki, Hiroko Fukushima, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Hidetoshi Takada
Novel ARX mutation identified in infantile spasm syndrome patient. Human genome variation 7 (2020)
Toshiki Takenouchi, Kazuki Kodo, Fumito Yamazaki, Hirofumi Nakatomi, Kenjiro Kosaki
Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome. American journal of medical genetics. Part A 185 (3) (2020)
Katsuya Hirata, Nobuhiko Okamoto, Chihiro Ichikawa, Shouta Inoue, Masatoshi Nozaki, Kimihiko Banno, Toshiki Takenouchi, Hisato Suzuki, Kenjiro Kosaki
Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations. American journal of medical genetics. Part A 185 (3) (2020)
Mamiko Yamada, Yuichi Shiraishi, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Chihiro Abe-Hatano, Kenji Kurosawa, Kenjiro Kosaki
Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities. Molecular genetics & genomic medicine 8 (9) (2020)
Yuichi Ueno, Takashi Enokizono, Hiroko Fukushima, Tatsuyuki Ohto, Kazuo Imagawa, Mai Tanaka, Aiko Sakai, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Hidetoshi Takada
A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay. Human genome variation 6 (2019)
Saki Saeki, Takashi Enokizono, Kazuo Imagawa, Hiroko Fukushima, Daigo Kajikawa, Aiko Sakai, Mai Tanaka, Tatsuyuki Ohto, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kosaki Kenjiro, Hidetoshi Takada
A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2. Clinical case reports 7 (11) (2019)
Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Hiroshi Yoshihashi, Hiroshi Suzumura, Seiji Mizuno, Kenjiro Kosaki
SATB2-associated syndrome in patients from Japan: Linguistic profiles. American journal of medical genetics. Part A 179 (6) (2019)
Hisato Suzuki, Toshiki Takenouchi, Tomoko Uehara, Satoshi Takasago, Satoshi Ihara, Hiroshi Yoshihashi, Kenjiro Kosaki
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. American journal of medical genetics. Part A 179 (8) (2019)
Hisato Suzuki, Takeshi Yoshida, Naoya Morisada, Tomoko Uehara, Kenjiro Kosaki, Katsunori Sato, Kohei Matsubara, Toshiyuki Takano-Shimizu, Toshiki Takenouchi
De novo NSF mutations cause early infantile epileptic encephalopathy. Annals of clinical and translational neurology 6 (11) (2019)
Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Hiroyuki Fukushima, Naoya Morisada, Kenta Tominaga, Motohiro Onoda, Kenjiro Kosaki
IFT172 as the 19th gene causative of oral-facial-digital syndrome. American journal of medical genetics. Part A 179 (12) (2019)
Toshiki Takenouchi, Fan-Yan Wei, Hisato Suzuki, Tomoko Uehara, Takao Takahashi, Yasushi Okazaki, Kenjiro Kosaki, Kazuhito Tomizawa
Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples. American journal of medical genetics. Part A 179 (8) (2019)
Tomoko Uehara, Takatoshi Tsuchihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki
CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features. American journal of medical genetics. Part A 179 (12) (2019)
Toshiki Takenouchi, Hironobu Okuno, Kenjiro Kosaki
Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)
Tomoko Uehara, Toshiki Takenouchi, Yu Yamaguchi, Yumi Daimon, Hisato Suzuki, Yuri Sakaguchi, Kenjiro Kosaki
CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome. American journal of medical genetics. Part A 179 (4) (2019)
Tomoko Uehara, Hidenori Suzuki, Nobuhiko Okamoto, Tatsuro Kondoh, Ayesha Ahmad, Bridget C O'Connor, Sawako Yoshina, Shohei Mitani, Kenjiro Kosaki, Toshiki Takenouchi
Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model. Scientific reports 9 (1) (2019)
Toshiki Takenouchi, Tomoko Uehara, Kenjiro Kosaki, Seiji Mizuno
Growth pattern of Rahman syndrome. American journal of medical genetics. Part A 176 (3) (2018)
Toshiki Takenouchi, Yoshiaki Sakamoto, Hironori Sato, Hisato Suzuki, Tomoko Uehara, Yoshiteru Ohsone, Kenjiro Kosaki
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. American journal of medical genetics. Part A 176 (12) (2018)
Yuri Sakaguchi, Tomoko Uehara, Hisato Suzuki, Yoshiaki Sakamoto, Mineko Fujiwara, Kenjiro Kosaki, Toshiki Takenouchi
Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis. American journal of medical genetics. Part A 176 (11) (2018)
Ritsuko Harigai, Shigeki Sakai, Hiroyuki Nobusue, Chikako Hirose, Oltea Sampetrean, Noriaki Minami, Yukie Hata, Takashi Kasama, Takanori Hirose, Toshiki Takenouchi, Kenjiro Kosaki, Kazuo Kishi, Hideyuki Saya, Yoshimi Arima
Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells. Scientific reports 8 (1) (2018)
Mari Minatogawa, Toshiki Takenouchi, Yu Tsuyusaki, Fuminori Iwasaki, Tomoko Uehara, Kenji Kurosawa, Kenjiro Kosaki, Cynthia J Curry
Expansion of the phenotype of Kosaki overgrowth syndrome. American journal of medical genetics. Part A 173 (9) (2017)
Toshiki Takenouchi, Tomu Kuchikata, Hiroshi Yoshihashi, Mineko Fujiwara, Tomoko Uehara, Sahoko Miyama, Shiro Yamada, Kenjiro Kosaki
Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype. American journal of medical genetics. Part A 173 (5) (2017)
Toshiki Takenouchi, Mie Inaba, Tomoko Uehara, Takao Takahashi, Kenjiro Kosaki, Seiji Mizuno
Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1. American journal of medical genetics. Part A 176 (2) (2017)