Tomoki Kosho (Tomoki Koshyo)

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 45

Top Topics

Induced Pluripotent Stem Cells

Duchenne Muscular Dystrophy

Myasthenia Gravis

Top Venues

American journal of medical genetics. Part A

Nature medicine

Journal of human genetics

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

Publications

Eriko Adachi, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, Maki Gau, Shizuka Kirino, Analia Yogi, Hisae Nakatani, Kei Takasawa, Tomomi Yamaguchi, Tomoki Kosho, Masanori Murakami, Toshihiro Tajima, Tomonobu Hasegawa, Tetsuya Yamada, Tomohiro Morio, Osamu Ohara, Kenichi Kashimada
A MinION-Based Long-Read Sequencing Application with One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency. The Journal of clinical endocrinology and metabolism (2023)
Tomoko Kobayashi, Fumiyoshi Fujishima, Kazuaki Tokodai, Chiaki Sato, Takashi Kamei, Noriko Miyake, Naomichi Matsumoto, Tomoki Kosho
Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS- CHST14 ). Genes 14 (5) (2023)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 29 (3) (2023)
Ayana Hashimoto, Takuya Hirose, Kohei Hashimoto, Shuji Mizumoto, Yuko Nitahara-Kasahara, Shota Saka, Takahiro Yoshizawa, Takashi Okada, Shuhei Yamada, Tomoki Kosho, Takafumi Watanabe, Shinji Miyata, Yoshihiro Nomura
Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers-Danlos Syndrome. Genes 14 (2) (2023)
Masashi Uehara, Jun Takahashi, Tomoki Kosho
Spinal Deformity in Ehlers-Danlos Syndrome: Focus on Musculocontractural Type. Genes 14 (6) (2023)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine (2023)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 29 (3) (2023)
Fengming Yue, Takumi Era, Tomomi Yamaguchi, Tomoki Kosho
Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem Cells. Genes 14 (3) (2023)
Fengming Yue, Takumi Era, Tomomi Yamaguchi, Tomoki Kosho
Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem Cells. Genes 14 (3) (2023)
Megumi Furuhata-Yoshimura, Tomomi Yamaguchi, Yayoi Izu, Tomoki Kosho
Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers-Danlos syndrome. American journal of medical genetics. Part A (2023)
Ayana Hashimoto, Takuya Hirose, Kohei Hashimoto, Shuji Mizumoto, Yuko Nitahara-Kasahara, Shota Saka, Takahiro Yoshizawa, Takashi Okada, Shuhei Yamada, Tomoki Kosho, Takafumi Watanabe, Shinji Miyata, Yoshihiro Nomura
Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers-Danlos Syndrome. Genes 14 (2) (2023)
Masashi Uehara, Jun Takahashi, Tomoki Kosho
Spinal Deformity in Ehlers-Danlos Syndrome: Focus on Musculocontractural Type. Genes 14 (6) (2023)
Takahiro Yoshizawa, Tomoki Kosho
Mouse Models of Musculocontractural Ehlers-Danlos Syndrome. Genes 14 (2) (2023)
Ririko Sato, Hidekane Yoshimura, Tomoki Kosho, Yutaka Takumi
Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution-based retrospective study. American journal of medical genetics. Part A (2023)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 29 (3) (2023)
Masayuki Kawakita, Satoshi Iwasaki, Hideaki Moteki, Shin-Ya Nishio, Tomoki Kosho, Shin-Ichi Usami
Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS- CHST14 ). Genes 14 (7) (2023)
Masashi Uehara, Jun Takahashi, Tomoki Kosho
Spinal Deformity in Ehlers-Danlos Syndrome: Focus on Musculocontractural Type. Genes 14 (6) (2023)
Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Yumi Enomoto, Kenji Kurosawa, Naoki Harada, Kumiko Yanagi, Tadashi Kaname, Keisuke Miyako, Masaki Takazawa, Hideo Sasai, Junichi Hosokawa, Sakae Itoga, Tomomi Yamaguchi, Tomoki Kosho, Keiko Matsubara, Yoko Kuroki, Maki Fukami, Kaori Adachi, Eiji Nanba, Naomi Tsuchida, Yuri Uchiyama, Naomichi Matsumoto, Kunihiro Nishimura, Osamu Ohara
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation dna sequencing. Nucleic acids research (2023)
Fengming Yue, Takumi Era, Tomomi Yamaguchi, Tomoki Kosho
Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem Cells. Genes 14 (3) (2023)
Ayana Hashimoto, Takuya Hirose, Kohei Hashimoto, Shuji Mizumoto, Yuko Nitahara-Kasahara, Shota Saka, Takahiro Yoshizawa, Takashi Okada, Shuhei Yamada, Tomoki Kosho, Takafumi Watanabe, Shinji Miyata, Yoshihiro Nomura
Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers-Danlos Syndrome. Genes 14 (2) (2023)
Takahiro Yoshizawa, Tomoki Kosho
Mouse Models of Musculocontractural Ehlers-Danlos Syndrome. Genes 14 (2) (2023)
Masashi Uehara, Jun Takahashi, Tomoki Kosho
Spinal Deformity in Ehlers-Danlos Syndrome: Focus on Musculocontractural Type. Genes 14 (6) (2023)
Takahiro Yoshizawa, Tomoki Kosho
Mouse Models of Musculocontractural Ehlers-Danlos Syndrome. Genes 14 (2) (2023)
Ayana Hashimoto, Takuya Hirose, Kohei Hashimoto, Shuji Mizumoto, Yuko Nitahara-Kasahara, Shota Saka, Takahiro Yoshizawa, Takashi Okada, Shuhei Yamada, Tomoki Kosho, Takafumi Watanabe, Shinji Miyata, Yoshihiro Nomura
Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers-Danlos Syndrome. Genes 14 (2) (2023)
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin-Ya Nishio, Tomoki Kosho
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system. American journal of medical genetics. Part A (2022)
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)
Fumihiro Isobe, Masanori Hayashi, Rena Kobayashi, Manami Nakamura, Tomoki Kosho, Jun Takahashi
Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers-Danlos Syndrome. Genes 13 (11) (2022)
Mari Minatogawa, Takuya Hirose, Shuji Mizumoto, Tomomi Yamaguchi, Chiai Nagae, Masashi Taki, Shuhei Yamada, Takafumi Watanabe, Tomoki Kosho
Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient. Human mutation (2022)
Yukihide Miyosawa, Motoko Kamiya, Chizuko Nakamura, Tomomi Yamaguchi, Tomoki Kosho
Postnatal intracerebral hemorrhage with hereditary hemorrhagic telangiectasia. Pediatrics international : official journal of the Japan Pediatric Society 64 (1) (2022)
Ryojun Takeda, Tomomi Yamaguchi, Shujiro Hayashi, Shinichirou Sano, Hiroshi Kawame, Sachiko Kanki, Takeshi Taketani, Hidekane Yoshimura, Yukio Nakamura, Tomoki Kosho
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications. American journal of medical genetics. Part A 188 (9) (2022)
Mari Minatogawa, Taichi Tsuji, Mie Inaba, Noriaki Kawakami, Seiji Mizuno, Tomoki Kosho
Atypical Sotos syndrome caused by a novel splice site variant. Human genome variation 9 (1) (2022)
Mari Minatogawa, Noriko Miyake, Yoshinori Tsukahara, Yuko Tanabe, Takamichi Uchiyama, Naomichi Matsumoto, Tomoki Kosho
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7. American journal of medical genetics. Part A (2021)
Hiroaki Hanafusa, Yoshihiko Hidaka, Tomomi Yamaguchi, Hisashi Shimojo, Takanori Tsukahara, Tsubasa Murase, Daisuke Matsuoka, Nao Chiba, Shun Shimada, Hirokazu Morokawa, Norio Omori, Hironori Minoura, China Nagano, Kyoko Takano, Katsuya Nakamura, Keiko Wakui, Yoshimitsu Fukushima, Takeshi Uehara, Yozo Nakazawa, Kazumoto Iijima, Kandai Nozu, Tomoki Kosho
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis. American journal of medical genetics. Part A 185 (7) (2021)
Yuko Nitahara-Kasahara, Shuji Mizumoto, Yukiko U Inoue, Shota Saka, Guillermo Posadas-Herrera, Aki Nakamura-Takahashi, Yuki Takahashi, Ayana Hashimoto, Kohei Konishi, Shinji Miyata, Chiaki Masuda, Emi Matsumoto, Yasunobu Maruoka, Takahiro Yoshizawa, Toshiki Tanase, Takayoshi Inoue, Shuhei Yamada, Yoshihiro Nomura, Shin'ichi Takeda, Atsushi Watanabe, Tomoki Kosho, Takashi Okada
Muscle pathophysiology in mouse models of musculocontractural Ehlers-Danlos syndrome due to CHST14 mutations (mcEDS-CHST14), generated through CRISPR/Cas9-mediated genomic editing. Disease models & mechanisms (2021)
Mari Minatogawa, Yoshinori Tsukahara, Shunsuke Yuzuriha, Tomoki Kosho
Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia. American journal of medical genetics. Part A 185 (12) (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)
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas R Janecke, Anne M Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, Klaas J Wierenga, Parul Jayakar, William A Gahl, Cynthia J Tifft, Luis E Figuera, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Ken Ishikawa, Tomoko Kobayashi, Yoko Aoki, Toshihiro Ohura, Hiroshi Kawame, Michihiro Kono, Kosuke Mochida, Chiho Tokorodani, Kiyoshi Kikkawa, Takayuki Morisaki, Tetsuyuki Kobayashi, Takaya Nakane, Akiharu Kubo, Judith D Ranells, Ohsuke Migita, Glenda Sobey, Anupriya Kaur, Masumi Ishikawa, Tomomi Yamaguchi, Naomichi Matsumoto, Fransiska Malfait, Noriko Miyake, Tomoki Kosho
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Journal of medical genetics (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)
Sandy Ayoub, Neeti Ghali, Chloe Angwin, Duncan Baker, Stella Baffini, Angela F Brady, Maria Luisa Giovannucci Uzielli, Cecilia Giunta, Diana S Johnson, Tomoki Kosho, Katherine Neas, F Michael Pope, Frank Rutsch, Gloria Scarselli, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. American journal of medical genetics. Part A 182 (5) (2020)
Charlotte K Lautrup, Keng W Teik, Ai Unzaki, Shuji Mizumoto, Delfien Syx, Heng H Sin, Irene K Nielsen, Sara Markholt, Shuhei Yamada, Fransiska Malfait, Naomichi Matsumoto, Noriko Miyake, Tomoki Kosho
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. Molecular genetics & genomic medicine 8 (5) (2020)
Soichi Shibuya, Yuichiro Miyake, Shigeru Takamizawa, Eriko Nishi, Katsumi Yoshizawa, Tomoko Hatata, Kazuki Yoshizawa, Kenya Fujita, Masahiko Noguchi, Jun Ohata, Takehiko Hiroma, Tomohiko Nakamura, Tomoki Kosho
Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed clinical observation. American journal of medical genetics. Part A 176 (5) (2019)
Tomomi Yamaguchi, Kyoko Takano, Yuji Inaba, Manami Morikawa, Mitsuo Motobayashi, Rie Kawamura, Keiko Wakui, Eriko Nishi, Shin-Ichi Hirabayashi, Yoshimitsu Fukushima, Hiroyuki Kato, Jun Takahashi, Tomoki Kosho
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review. American journal of medical genetics. Part A 179 (6) (2019)
Takenori Natsume, Kyoko Takano, Mitsuo Motobayashi, Tomoki Kosho
Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome. Pediatrics international : official journal of the Japan Pediatric Society 60 (4) (2018)
Masashi Uehara, Tomoki Kosho, Noriaki Yamamoto, Hideaki E Takahashi, Taketoshi Shimakura, Jun Nakayama, Hiroyuki Kato, Jun Takahashi
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14). American journal of medical genetics. Part A 176 (11) (2018)
Eriko Nishi, Mizue Takasugi, Rie Kawamura, Soichi Shibuya, Shigeru Takamizawa, Takehiko Hiroma, Tomohiko Nakamura, Tomoki Kosho
Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment. American journal of medical genetics. Part A 176 (9) (2018)