ToshikiTakenouchiMD

PubMed

• 3 citations
  Multiple introductions of SARS-CoV-2 B.1.1.214 lineages from mainland Japan preceded the third wave of the COVID-19 epidemic in Hokkaido
  Takako Shimura, Kodai Abe, Toshiki Takenouchi, Mamiko Yamada, Hisato Suzuki, Makoto Suematsu, Sho Nakakubo, Keisuke Kamada, Satoshi Konno, Takanori Teshima, Kenjiro Ko...> ;Travel Medicine and Infectious Disease. 2021 Nov 1
• 4 citations
  The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.
  Eriko Nishi, Toshiki Takenouchi, Fuyuki Miya, Tomoko Uehara, Kumiko Yanagi, Yuiko Hasegawa, Kimiko Ueda, Seiji Mizuno, Tadashi Kaname, Kenjiro Kosaki, Nobuhiko Okamoto> ;American Journal of Medical Genetics. Part A. 2021 Oct 15
• Vanishing basal ganglia in ATP1A3-related polymicrogyria.
  Eri Ogawa, Yuri Sakaguchi, Mikako Enokizono, Hiroshi Yoshihashi, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Sahoko Miyama, Toshiki Takenouchi> ;American Journal of Medical Genetics. Part A. 2021 Oct 11
• 4 citations
  Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy
  Yuka Murofushi, Itaru Hayakawa, Yuichi Abe, Tatsuyuki Ohto, Kei Murayama, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Masaya Kubota> ;Neuropediatrics. 2021 Aug 26
• 1 citations
  Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant.
  Mamiko Yamada, Michinori Funato, Goro Kondo, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Yoshiaki Sakamoto, Kenjiro Kosaki> ;Congenital Anomalies. 2021 Jun 29
• 1 citations
  A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
  Kimiko Ueda, Atsushi Araki, Atsushi Fujita, Naomichi Matsumoto, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Nobuhiko Okamoto> ;Human Genome Variation. 2021 Jun 18
• Decisive evidence of direct effect of ACTH treatment in West syndrome: A case report
  Marie Sasaki, Toshiki Takenouchi, Yuri Sakaguchi, Takao Takahashi> ;Seizure. 2021 May 25
• 8 citations
  Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
  Tomoko Uehara, Rikako Sanuki, Yurie Ogura, Atsushi Yokoyama, Takeshi Yoshida, Hiroshi Futagawa, Hiroshi Yoshihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, K...> ;American Journal of Medical Genetics. Part A. 2021 May 11
• 15 citations
  Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
  Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie F. Rustad, Natasha J Brown, Dawn L. Earl, Boris Keren, Olga Levchenko, Sinje Geuer, Sarah Verhe...> ;American Journal of Human Genetics. 2021 May 6
• 4 citations
  Identification of B.1.346 Lineage of SARS-CoV-2 in Japan: Genomic Evidence of Re-entry of Clade 20C.
  Kodai Abe, Takako Shimura, Toshiki Takenouchi, Yuka W. Iwasaki, Hirotsugu Ishizu, Yoshifumi Uwamino, Shunsuke Uno, Jun Gotoh, Natsuo Tachikawa, Yuriko Takeuchi, Junpei...> ;The Keio Journal of Medicine. 2021 Jan 1
• 4 citations
  Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
  Mamiko Yamada, Masae Ono, Tomohiro Ishii, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki> ;American Journal of Medical Genetics. Part A. 2021 Mar 1
• 9 citations
  Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
  Yuri Sakaguchi, Hiroshi Yoshihashi, Tomoko Uehara, Sahoko Miyama, Kenjiro Kosaki, Toshiki Takenouchi> ;American Journal of Medical Genetics. Part A. 2021 Mar 1
• 2 citations
  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
  Katsuya Hirata, Nobuhiko Okamoto, Chihiro Ichikawa, Shouta Inoue, Masatoshi Nozaki, Kimihiko Banno, Toshiki Takenouchi, Hisato Suzuki, Kenjiro Kosaki> ;American Journal of Medical Genetics. Part A. 2021 Mar 1
• 2 citations
  Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.
  Toshiki Takenouchi, Kazuki Kodo, Fumito Yamazaki, Hirofumi Nakatomi, Kenjiro Kosaki> ;American Journal of Medical Genetics. Part A. 2021 Mar 1
• 1 citations
  Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder
  Mamiko Yamada, Kazumi Kubota, Atsuro Uchida, Tatsuhiko Yagihashi, Masahito Kawasaki, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Hiroshi Kurosaka, Kenjiro Kosaki> ;American Journal of Medical Genetics. Part A. 2021 Feb 22
• 8 citations
  Assessment of long-term quality of life in patients with syndromic craniosynostosis.
  Yoshiaki Sakamoto, Toshiki Takenouchi, Tomoru Miwa, Kazuo Kishi> ;Journal of Plastic, Reconstructive & Aesthetic Surgery. 2021 Feb 1
• 5 citations
  Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with oth...
  Maiko Hatano, Hiroko Fukushima, Tatsuyuki Ohto, Yuichi Ueno, Saki Saeki, Takashi Enokizono, Ryuta Tanaka, Mai Tanaka, Kazuo Imagawa, Yu Kanai, Mitsuhiro Kato, Hiroshi ...> ;American Journal of Medical Genetics. Part A. 2021 Jan 27
• 2 citations
  Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants
  Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara, Toshiki Ta...> ;Human Genome Variation. 2021 Jan 26
• 14 citations
  Clinical Utility of SARS-CoV-2 Whole Genome Sequencing in Deciphering Source of Infection.
  Toshiki Takenouchi, Yuka W. Iwasaki, Sei Harada, Hirotsugu Ishizu, Yoshifumi Uwamino, Shunsuke Uno, Asami Osada, Kodai Abe, Naoki Hasegawa, Mitsuru Murata, Toru Takeba...> ;The Journal of Hospital Infection. 2021 Jan 1
• 11 citations
  Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures
  Hisato Suzuki, Mie Inaba, Mamiko Yamada, Tomoko Uehara, Toshiki Takenouchi, Seiji Mizuno, Kenjiro Kosaki, Motomichi Doi> ;American Journal of Medical Genetics. Part A. 2021 Apr 1
• 4 citations
  GNAO1 mutation-related severe involuntary movements treated with gabapentin
  Manami Akasaka, Atsushi Kamei, Sachiko Tanifuji, Maya Asami, Jun Ito, Kanako Mizuma, Kotaro Oyama, Tomoharu Tokutomi, Kayono Yamamoto, Akimune Fukushima, Toshiki Taken...> ;Brain & Development. 2021 Apr 1
• Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript
  Mamiko Yamada, Tatsuyuki Sokoda, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Tatsuhiko Yagihashi, Yoshihiro Maruo, Kenjiro Kosaki> ;American Journal of Medical Genetics. Part A. 2020 Dec 1
• 11 citations
  Role of chimeric transcript formation in the pathogenesis of birth defects
  Mamiko Yamada, Hisato Suzuki, Akiko Watanabe, Tomoko Uehara, Toshiki Takenouchi, Seiji Mizuno, Kenjiro Kosaki> ;Congenital Anomalies. 2021 May 1
• 7 citations
  Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants.
  Tomoko Uehara, Kota Abe, Masayuki Oginuma, Shizuka Ishitani, Hiroshi Yoshihashi, Nobuhiko Okamoto, Toshiki Takenouchi, Kenjiro Kosaki, Tohru Ishitani> ;Scientific Reports. 2020 Oct 16
• 3 citations
  A Case of Pulmonary Veno-Occlusive Disease Following Hepatic Veno-Occlusive Disease After Autologous Hematopoietic Stem Cell Transplantation for Neuroblastoma
  Kyohei Isshiki, Haruko Shima, Fumito Yamazaki, Toshiki Takenouchi, Hiroyuki Shimada> ;Journal of Pediatric Hematology/oncology. 2020 Oct 1
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