Shuichiro Mitsuhashi

Publications (26)

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.

Journal of human genetics

Avec: Mitsuko Nakashima , Mitsuhiro Kato , Masaru Matsukura , Ryutaro Kira , Lock-Hock Ngu , Klaske D Lichtenbelt , Koen L I van Gassen , Satomi Mitsuhashi , Hirotomo Saitsu , Naomichi Matsumoto

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.

Journal of human genetics

Avec: Ming Lei , Desheng Liang , Yifeng Yang , Satomi Mitsuhashi , Kazutaka Katoh , Noriko Miyake , Martin C Frith , Lingqian Wu , Naomichi Matsumoto

A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly.

Journal of human genetics

Avec: Sachiko Ohori , Satomi Mitsuhashi , Revital Ben-Haim , Eli Heyman , Toru Sengoku , Kazuhiro Ogata , Naomichi Matsumoto

Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.

Journal of human genetics

Avec: Haruko Nakamura , Hiroshi Doi , Satomi Mitsuhashi , Satoko Miyatake , Kazutaka Katoh , Martin C Frith , Tetsuya Asano , Yosuke Kudo , Takuya Ikeda , Shun Kubota , Misako Kunii , Yu Kitazawa , Mikiko Tada , Mitsuo Okamoto , Hideto Joki , Hideyuki Takeuchi , Naomichi Matsumoto , Fumiaki Tanaka

The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts.

Scientific reports

Avec: Yasuhiro Horibata , Satomi Mitsuhashi , Hiroaki Shimizu , Sho Maejima , Hirotaka Sakamoto , Chieko Aoyama , Hiromi Ando , Hiroyuki Sugimoto

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.

American journal of human genetics

Avec: Noriko Miyake , Hidehisa Takahashi , Kazuyuki Nakamura , Bertrand Isidor , Yoko Hiraki , Eriko Koshimizu , Masaaki Shiina , Kazunori Sasaki , Hidefumi Suzuki , Ryota Abe , Yayoi Kimura , Tomoko Akiyama , Shin-Ichi Tomizawa , Tomonori Hirose , Kohei Hamanaka , Satoko Miyatake , Satomi Mitsuhashi , Takeshi Mizuguchi , Atsushi Takata , Kazuyuki Obo , Mitsuhiro Kato , Kazuhiro Ogata , Naomichi Matsumoto

Assessing the role of urologists and general surgeons in the open repair of bladder injuries: Analysis of a large, statewide trauma database.

The journal of trauma and acute care surgery

Avec: Joon Yau Leong , Hamza Rshaidat , Elwin Tham , Shuji Mitsuhashi , Paul H Chung

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.

Journal of human genetics

Avec: Yuri Uchiyama , Chong A Kim , Antonio Carlos Pastorino , José Ceroni , Patricia Picciarelli Lima , Mayra de Barros Dorna , Rachel Sayuri Honjo , Débora Bertola , Kohei Hamanaka , Atsushi Fujita , Satomi Mitsuhashi , Satoko Miyatake , Atsushi Takata , Noriko Miyake , Takeshi Mizuguchi , Naomichi Matsumoto

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.

BMC neurology

Avec: Kouhei Den , Yosuke Kudo , Mitsuhiro Kato , Kosuke Watanabe , Hiroshi Doi , Fumiaki Tanaka , Hirokazu Oguni , Satoko Miyatake , Takeshi Mizuguchi , Atsushi Takata , Noriko Miyake , Satomi Mitsuhashi , Naomichi Matsumoto

Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.

Journal of human genetics

Avec: Ming Lei , Satomi Mitsuhashi , Noriko Miyake , Tohru Ohta , Desheng Liang , Lingqian Wu , Naomichi Matsumoto

GNE myopathy in Chinese population: hotspot and novel mutations.

Journal of human genetics

Avec: Yang Chen , Jianying Xi , Wenhua Zhu , Jie Lin , Sushan Luo , Dongyue Yue , Shuang Cai , Chong Sun , Chongbo Zhao , Satomi Mitsuhashi , Ichizo Nishino , Minjie Xu , Jiahong Lu

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

Human molecular genetics

Avec: Kohei Hamanaka , Atsushi Takata , Yuri Uchiyama , Satoko Miyatake , Noriko Miyake , Satomi Mitsuhashi , Kazuhiro Iwama , Atsushi Fujita , Eri Imagawa , Ahmed N Alkanaq , Eriko Koshimizu , Yoshiki Azuma , Mitsuko Nakashima , Takeshi Mizuguchi , Hirotomo Saitsu , Yuka Wada , Sawako Minami , Yuko Katoh-Fukui , Yohei Masunaga , Maki Fukami , Tomonobu Hasegawa , Tsutomu Ogata , Naomichi Matsumoto

Characterization of glycerophosphodiesterase 4-interacting molecules Gαq/11 and Gβ, which mediate cellular lysophospholipase D activity.

The Biochemical journal

Avec: Chieko Aoyama , Yasuhiro Horibata , Hiromi Ando , Satomi Mitsuhashi , Maki Arai , Hiroyuki Sugimoto

Comprehensive genomic analysis reveals dynamic evolution of endogenous retroviruses that code for retroviral-like protein domains.

Mobile DNA

Avec: Mahoko Takahashi Ueda , Kirill Kryukov , Satomi Mitsuhashi , Hiroaki Mitsuhashi , Tadashi Imanishi , So Nakagawa

Prediction and management of bleeding during endoscopic necrosectomy for pancreatic walled-off necrosis: results of a large retrospective cohort at a tertiary referral center.

Gastrointestinal endoscopy

Avec: Ian Holmes , Brianna Shinn , Shuji Mitsuhashi , Tina Boortalary , Muhammad Bashir , Thomas Kowalski , David Loren , Anand Kumar , Alexander Schlachterman , Austin Chiang

Association of race/ethnicity and socioeconomic status with COVID-19 30-day mortality at a Philadelphia medical center using a retrospective cohort study.

Journal of medical virology

Avec: Dianna R Cheney-Peters , Crystal Y Lee , Shuji Mitsuhashi , Dina S Zaret , Joshua M Riley , Chantel M Venkataraman , Joseph W Schaefer , Brandon J George , Chris J Li , Christa M Smaltz , Conor G Bradley , Danielle M Fitzpatrick , David B Ney , Divya M Chalikonda , Joshua D Mairose , Kashyap Chauhan , Margaret V Szot , Robert B Jones , Rukaiya Bashir-Hamidu , Alan A Kubey

Recurrent bleeding duodenal and colonic ulcers due to post-transplant lymphoproliferative disorder.

Clinical journal of gastroenterology

Avec: Shuji Mitsuhashi , Divya Chalikonda , Bushra Nazir , Amit Agarwal , Robert Coben

Biallelic structural variations within

Life science alliance

Avec: Sachiko Ohori , Akihiko Miyauchi , Hitoshi Osaka , Charles Marques Lourenco , Naohiro Arakaki , Toru Sengoku , Kazuhiro Ogata , Rachel Sayuri Honjo , Chong Ae Kim , Satomi Mitsuhashi , Martin C Frith , Rie Seyama , Naomi Tsuchida , Yuri Uchiyama , Eriko Koshimizu , Kohei Hamanaka , Kazuharu Misawa , Satoko Miyatake , Takeshi Mizuguchi , Kuniaki Saito , Atsushi Fujita , Naomichi Matsumoto

Finding Rearrangements in Nanopore DNA Reads with LAST and dnarrange.

Methods in molecular biology (Clifton, N.J.)

Avec: Martin C Frith , Satomi Mitsuhashi

A randomized trial comparing gastric and colorectal endoscopic submucosal dissection defect closure using novel through the scope suturing system with over-the-scope suturing system.

Gastrointestinal endoscopy

Avec: Abhishek Agnihotri , Shuji Mitsuhashi , Ian Holmes , Faisal Kamal , Austin L Chiang , David E Loren , Thomas E Kowalski , Alexander Schlachterman , Anand R Kumar

Genetic diversity among maize (Zea mays L.) inbred lines adapted to Japanese climates.

PloS one

Avec: Shohei Mitsuhashi

A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.

BMC neurology

Avec: Kei Kaburagi , Yuta Hagiwara , Keiji Tachikawa , Noriko Miyake , Hisanao Akiyama , Yosuke Kawai , Yosuke Omae , Katsushi Tokunaga , Yoshihisa Yamano , Takahiro Shimizu , Satomi Mitsuhashi

HERV-Derived

International journal of molecular sciences

Avec: Ayumi Matsuzawa , Jiyoung Lee , So Nakagawa , Johbu Itoh , Mahoko Takahashi Ueda , Satomi Mitsuhashi , Yuta Kochi , Tomoko Kaneko-Ishino , Fumitoshi Ishino

Nonsense variants of

Human genome variation

Avec: Hiromi Aoi , Ming Lei , Takeshi Mizuguchi , Nobuko Nishioka , Tomohide Goto , Sahoko Miyama , Toshifumi Suzuki , Kazuhiro Iwama , Yuri Uchiyama , Satomi Mitsuhashi , Atsuo Itakura , Satoru Takeda , Naomichi Matsumoto

Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population.

BMC medical genomics

Avec: Satomi Mitsuhashi , Martin C Frith , Naomichi Matsumoto

lamassemble: Multiple Alignment and Consensus Sequence of Long Reads.

Methods in molecular biology (Clifton, N.J.)

Avec: Martin C Frith , Satomi Mitsuhashi , Kazutaka Katoh

Réseau de co-auteurs

Satomi Mitsuhashi 20 collaborations

Naomichi Matsumoto 12 collaborations

Noriko Miyake 7 collaborations

Martin C Frith 6 collaborations

Satoko Miyatake 6 collaborations

Takeshi Mizuguchi 6 collaborations

Shuji Mitsuhashi 5 collaborations

Kohei Hamanaka 4 collaborations

Atsushi Takata 4 collaborations

Yuri Uchiyama 4 collaborations

Mitsuhiro Kato 3 collaborations

Ming Lei 3 collaborations

Kazutaka Katoh 3 collaborations

Kazuhiro Ogata 3 collaborations

Eriko Koshimizu 3 collaborations

Atsushi Fujita 3 collaborations

Mitsuko Nakashima 2 collaborations

Hirotomo Saitsu 2 collaborations

Desheng Liang 2 collaborations

Lingqian Wu 2 collaborations

Sachiko Ohori 2 collaborations

Toru Sengoku 2 collaborations

Hiroshi Doi 2 collaborations

Yosuke Kudo 2 collaborations

Fumiaki Tanaka 2 collaborations

Yasuhiro Horibata 2 collaborations

Chieko Aoyama 2 collaborations

Hiromi Ando 2 collaborations

Hiroyuki Sugimoto 2 collaborations

Rachel Sayuri Honjo 2 collaborations

Kazuhiro Iwama 2 collaborations

Mahoko Takahashi Ueda 2 collaborations

So Nakagawa 2 collaborations

Ian Holmes 2 collaborations

Alexander Schlachterman 2 collaborations

Masaru Matsukura 1 collaboration

Ryutaro Kira 1 collaboration

Lock-Hock Ngu 1 collaboration

Klaske D Lichtenbelt 1 collaboration

Koen L I van Gassen 1 collaboration

Yifeng Yang 1 collaboration

Revital Ben-Haim 1 collaboration

Eli Heyman 1 collaboration

Haruko Nakamura 1 collaboration

Tetsuya Asano 1 collaboration

Takuya Ikeda 1 collaboration

Shun Kubota 1 collaboration

Misako Kunii 1 collaboration

Yu Kitazawa 1 collaboration

Mikiko Tada 1 collaboration

Mitsuo Okamoto 1 collaboration

Hideto Joki 1 collaboration

Hideyuki Takeuchi 1 collaboration

Hiroaki Shimizu 1 collaboration

Sho Maejima 1 collaboration

Hirotaka Sakamoto 1 collaboration

Hidehisa Takahashi 1 collaboration

Kazuyuki Nakamura 1 collaboration

Bertrand Isidor 1 collaboration

Yoko Hiraki 1 collaboration

Masaaki Shiina 1 collaboration

Kazunori Sasaki 1 collaboration

Hidefumi Suzuki 1 collaboration

Ryota Abe 1 collaboration

Yayoi Kimura 1 collaboration

Tomoko Akiyama 1 collaboration

Shin-Ichi Tomizawa 1 collaboration

Tomonori Hirose 1 collaboration

Kazuyuki Obo 1 collaboration

Joon Yau Leong 1 collaboration

Hamza Rshaidat 1 collaboration

Elwin Tham 1 collaboration

Paul H Chung 1 collaboration

Chong A Kim 1 collaboration

Antonio Carlos Pastorino 1 collaboration

José Ceroni 1 collaboration

Patricia Picciarelli Lima 1 collaboration

Mayra de Barros Dorna 1 collaboration

Débora Bertola 1 collaboration

Kouhei Den 1 collaboration

Kosuke Watanabe 1 collaboration

Hirokazu Oguni 1 collaboration

Tohru Ohta 1 collaboration

Yang Chen 1 collaboration

Jianying Xi 1 collaboration

Wenhua Zhu 1 collaboration

Jie Lin 1 collaboration

Sushan Luo 1 collaboration

Dongyue Yue 1 collaboration

Shuang Cai 1 collaboration

Chong Sun 1 collaboration

Chongbo Zhao 1 collaboration

Ichizo Nishino 1 collaboration

Minjie Xu 1 collaboration

Jiahong Lu 1 collaboration

Eri Imagawa 1 collaboration

Ahmed N Alkanaq 1 collaboration

Yoshiki Azuma 1 collaboration

Yuka Wada 1 collaboration

Sawako Minami 1 collaboration

Yuko Katoh-Fukui 1 collaboration

Yohei Masunaga 1 collaboration

Maki Fukami 1 collaboration

Tomonobu Hasegawa 1 collaboration

Tsutomu Ogata 1 collaboration

Maki Arai 1 collaboration

Kirill Kryukov 1 collaboration

Hiroaki Mitsuhashi 1 collaboration

Tadashi Imanishi 1 collaboration

Brianna Shinn 1 collaboration

Tina Boortalary 1 collaboration

Muhammad Bashir 1 collaboration

Thomas Kowalski 1 collaboration

David Loren 1 collaboration

Anand Kumar 1 collaboration

Austin Chiang 1 collaboration

Dianna R Cheney-Peters 1 collaboration

Crystal Y Lee 1 collaboration

Dina S Zaret 1 collaboration

Joshua M Riley 1 collaboration

Chantel M Venkataraman 1 collaboration

Joseph W Schaefer 1 collaboration

Brandon J George 1 collaboration

Chris J Li 1 collaboration

Christa M Smaltz 1 collaboration

Conor G Bradley 1 collaboration

Danielle M Fitzpatrick 1 collaboration

David B Ney 1 collaboration

Divya M Chalikonda 1 collaboration

Joshua D Mairose 1 collaboration

Kashyap Chauhan 1 collaboration

Margaret V Szot 1 collaboration

Robert B Jones 1 collaboration

Rukaiya Bashir-Hamidu 1 collaboration

Alan A Kubey 1 collaboration

Divya Chalikonda 1 collaboration

Bushra Nazir 1 collaboration

Amit Agarwal 1 collaboration

Robert Coben 1 collaboration

Akihiko Miyauchi 1 collaboration

Hitoshi Osaka 1 collaboration

Charles Marques Lourenco 1 collaboration

Naohiro Arakaki 1 collaboration

Chong Ae Kim 1 collaboration

Rie Seyama 1 collaboration

Naomi Tsuchida 1 collaboration

Kazuharu Misawa 1 collaboration

Kuniaki Saito 1 collaboration

Abhishek Agnihotri 1 collaboration

Faisal Kamal 1 collaboration

Austin L Chiang 1 collaboration

David E Loren 1 collaboration

Thomas E Kowalski 1 collaboration

Anand R Kumar 1 collaboration

Shohei Mitsuhashi 1 collaboration

Kei Kaburagi 1 collaboration

Yuta Hagiwara 1 collaboration

Keiji Tachikawa 1 collaboration

Hisanao Akiyama 1 collaboration

Yosuke Kawai 1 collaboration

Yosuke Omae 1 collaboration

Katsushi Tokunaga 1 collaboration

Yoshihisa Yamano 1 collaboration

Takahiro Shimizu 1 collaboration

Ayumi Matsuzawa 1 collaboration

Jiyoung Lee 1 collaboration

Johbu Itoh 1 collaboration

Yuta Kochi 1 collaboration

Tomoko Kaneko-Ishino 1 collaboration

Fumitoshi Ishino 1 collaboration

Hiromi Aoi 1 collaboration

Nobuko Nishioka 1 collaboration

Tomohide Goto 1 collaboration

Sahoko Miyama 1 collaboration

Toshifumi Suzuki 1 collaboration

Atsuo Itakura 1 collaboration

Satoru Takeda 1 collaboration