Shinji Saitoh

Scopus Author ID Researcher Name Resolver ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 58

Top Topics

Low Birth Weight

Dna Methylation

Autism Spectrum Disorder

Top Venues

Journal of human genetics

Pediatrics international : official journal of the Japan Pediatric Society

Scientific reports

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

Publications

Satoko Fukaya, Sachiko Iwata, Kennosuke Tsuda, Akiko Hirose, Masahiro Kinoshita, Shinji Saitoh, Osuke Iwata
Body Size, Cerebral Blood Flow, Ambient Temperature, and Relative Brain Temperatures in Newborn Infants under Incubator Care. Biosensors 14 (4) (2024)
Midori Obayashi, Sachiko Iwata, Tomoya Okuda, Ichita Mori, Shigeharu Nakane, Yasuko Togawa, Mari Sugimoto, Takao Togawa, Kanji Muramatsu, Shinji Saitoh, Takahiro Sugiura, Osuke Iwata
Antenatal Growth, Gestational Age, Birth, Enteral Feeding, and Blood Citrulline Levels in Very Low Birth Weight Infants. Nutrients 16 (4) (2024)
Yuji Nakamura, Issei S Shimada, Reza Maroofian, Micol Falabella, Maha S Zaki, Masanori Fujimoto, Emi Sato, Hiroshi Takase, Shiho Aoki, Akihiko Miyauchi, Eriko Koshimizu, Satoko Miyatake, Yuko Arioka, Mizuki Honda, Takayoshi Higashi, Fuyuki Miya, Yukimune Okubo, Isamu Ogawa, Annarita Scardamaglia, Mohammad Miryounesi, Sahar Alijanpour, Farzad Ahmadabadi, Peter Herkenrath, Hormos Salimi Dafsari, Clara Velmans, Mohammed Al Balwi, Antonio Vitobello, Anne Sophie Denommé-Pichon, Médéric Jeanne, Antoine Civit, Mohamed S Abdel-Hamid, Hamed Naderi, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Christopher J Carroll, Ehsan Ghayoor Karimiani, Rozhgar A Khailany, Talib Adil Abdulqadir, Mehmet Ozaslan, Peter Bauer, Giovanni Zifarelli, Tahere Seifi, Mina Zamani, Chadi Al Alam, Javeria Raza Alvi, Tipu Sultan, Stephanie Efthymiou, Simon A S Pope, Kazuhiro Haginoya, Tamihide Matsunaga, Hitoshi Osaka, Naomichi Matsumoto, Norio Ozaki, Yasuyuki Ohkawa, Shinya Oki, Tatushiko Tsunoda, Robert D S Pitceathly, Yoshitaka Taketomi, Henry Houlden, Makoto Murakami, Yoichi Kato, Shinji Saitoh
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia. Brain : a journal of neurology (2024)
Midori Obayashi, Sachiko Iwata, Tomoya Okuda, Ichita Mori, Shigeharu Nakane, Yasuko Togawa, Mari Sugimoto, Takao Togawa, Kanji Muramatsu, Shinji Saitoh, Takahiro Sugiura, Osuke Iwata
Antenatal Growth, Gestational Age, Birth, Enteral Feeding, and Blood Citrulline Levels in Very Low Birth Weight Infants. Nutrients 16 (4) (2024)
Shogo Nakane, Yuki Ito, Kayo Kaneko, Sayaka Kato, Kyoko Minato, Takeshi Ebara, Shinji Saitoh, Mayumi Sugiura-Ogasawara, Yasuyuki Shibuya, Michihiro Kamijima
Oral hygiene status and vascular aging in schoolchildren and their mothers. Environmental health and preventive medicine 29 (2024)
Tsutomu Shinohara, Jan Renier Moonen, Yoon Hong Chun, Yannick C Lee-Yow, Kenichi Okamura, Jason M Szafron, Jordan Kaplan, Aiqin Cao, Lingli Wang, Shalina Taylor, Sarasa Isobe, Melody L Dong, Weiguang Yang, Katherine Guo, Benjamin D Franco, Cholawat Pacharinsak, Laura J Pisani, Shinji Saitoh, Yoshihide Mitani, Alison L Marsden, Jesse M Engreitz, Jakob Körbelin, Marlene Rabinovitch
High Shear Stress Reduces ERG Causing Endothelial-Mesenchymal Transition and Pulmonary Arterial Hypertension. bioRxiv : the preprint server for biology (2024)
Midori Obayashi, Sachiko Iwata, Tomoya Okuda, Ichita Mori, Shigeharu Nakane, Yasuko Togawa, Mari Sugimoto, Takao Togawa, Kanji Muramatsu, Shinji Saitoh, Takahiro Sugiura, Osuke Iwata
Antenatal Growth, Gestational Age, Birth, Enteral Feeding, and Blood Citrulline Levels in Very Low Birth Weight Infants. Nutrients 16 (4) (2024)
Satoko Fukaya, Sachiko Iwata, Kennosuke Tsuda, Akiko Hirose, Masahiro Kinoshita, Shinji Saitoh, Osuke Iwata
Body Size, Cerebral Blood Flow, Ambient Temperature, and Relative Brain Temperatures in Newborn Infants under Incubator Care. Biosensors 14 (4) (2024)
Satoko Fukaya, Sachiko Iwata, Kennosuke Tsuda, Akiko Hirose, Masahiro Kinoshita, Shinji Saitoh, Osuke Iwata
Body Size, Cerebral Blood Flow, Ambient Temperature, and Relative Brain Temperatures in Newborn Infants under Incubator Care. Biosensors 14 (4) (2024)
Shogo Nakane, Yuki Ito, Kayo Kaneko, Sayaka Kato, Kyoko Minato, Takeshi Ebara, Shinji Saitoh, Mayumi Sugiura-Ogasawara, Yasuyuki Shibuya, Michihiro Kamijima
Oral hygiene status and vascular aging in schoolchildren and their mothers. Environmental health and preventive medicine 29 (2024)
Shogo Nakane, Yuki Ito, Kayo Kaneko, Sayaka Kato, Kyoko Minato, Takeshi Ebara, Shinji Saitoh, Mayumi Sugiura-Ogasawara, Yasuyuki Shibuya, Michihiro Kamijima
Oral hygiene status and vascular aging in schoolchildren and their mothers. Environmental health and preventive medicine 29 (2024)
Aya Yoshida, Kayo Kaneko, Kohei Aoyama, Naoya Yamaguchi, Atsushi Suzuki, Sayaka Kato, Takeshi Ebara, Mayumi Sugiura-Ogasawara, Michihiro Kamijima, Shinji Saitoh, null The Japan Environment And Children's Study Group
Relationship between Birth Order and Postnatal Growth until 4 Years of Age: The Japan Environment and Children's Study. Children (Basel, Switzerland) 10 (3) (2023)
Atsushi Numaguchi, Akira Ishii, Jun Natsume, Shinji Saitoh, Yasuhiro Aoki, Tetsushi Yoshikawa, Ichiro Isobe, Akihisa Okumura, Hiroshi Seno, Yoshiyuki Takahashi
Medical records as screening tools for child death review in Japan. Pediatrics international : official journal of the Japan Pediatric Society 65 (1) (2023)
Aya Yoshida, Kayo Kaneko, Kohei Aoyama, Naoya Yamaguchi, Atsushi Suzuki, Sayaka Kato, Takeshi Ebara, Mayumi Sugiura-Ogasawara, Michihiro Kamijima, Shinji Saitoh, null The Japan Environment And Children's Study Group
Relationship between Birth Order and Postnatal Growth until 4 Years of Age: The Japan Environment and Children's Study. Children (Basel, Switzerland) 10 (3) (2023)
Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal-Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, Naomichi Matsumoto
Molecular diagnosis of 405 individuals with autism spectrum disorder. European journal of human genetics : EJHG (2023)
Shin Kato, Osuke Iwata, Hiroyuki Kato, Satoko Fukaya, Yukari Imai, Shinji Saitoh
Furin Regulates the Alveolarization of Neonatal Lungs in a Mouse Model of Hyperoxic Lung Injury. Biomolecules 13 (11) (2023)
Hana Milena Fujimoto, Masanori Fujimoto, Takahiro Sugiura, Shigeharu Nakane, Yasuhiro Wakano, Emi Sato, Hironori Oshita, Yasuko Togawa, Mari Sugimoto, Takenori Kato, Kazushi Yasuda, Kanji Muramatsu, Shinji Saitoh
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia. Human genome variation 10 (1) (2023)
Jun Ueyama, Yuki Ito, Risa Hamada, Naoko Oya, Sayaka Kato, Taro Matsuki, Hazuki Tamada, Kayo Kaneko, Shinji Saitoh, Mayumi Sugiura-Ogasawara, Takeshi Ebara, Michihiro Kamijima
Simultaneous quantification of pyrethroid metabolites in urine of non-toilet-trained children in Japan. Environmental health and preventive medicine 27 (0) (2022)
Yasuhisa Nakamura, Sachiko Iwata, Kyoko Yokoi, Yuko Mizutani, Masatoshi Yoshikane, Koya Kawase, Takenori Kato, Satoru Kobayashi, Haruo Goto, Shinji Saitoh, Osuke Iwata
Influence of Intrauterine Inflammation, Delivery, and Postnatal Feeding on the Temporal Changes of Serum Alpha 1 Acid Glycoprotein Levels in Extremely-Low-Birth-Weight Infants. Nutrients 14 (23) (2022)
Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ayako Hattori, Anna Shiraki, Seiji Mizuno, Shinji Saitoh
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction. Journal of human genetics (2022)
Hazuki Tamada, Takeshi Ebara, Taro Matsuki, Sayaka Kato, Hirotaka Sato, Yuki Ito, Shinji Saitoh, Michihiro Kamijima, Mayumi Sugiura-Ogasawara, null On Behalf Of The Japan Environment And Children's Study Group
Impact of Ready-Meal Consumption during Pregnancy on Birth Outcomes: The Japan Environment and Children's Study. Nutrients 14 (4) (2022)
Yasuhisa Nakamura, Sachiko Iwata, Kyoko Yokoi, Yuko Mizutani, Masatoshi Yoshikane, Koya Kawase, Takenori Kato, Satoru Kobayashi, Haruo Goto, Shinji Saitoh, Osuke Iwata
Influence of Intrauterine Inflammation, Delivery, and Postnatal Feeding on the Temporal Changes of Serum Alpha 1 Acid Glycoprotein Levels in Extremely-Low-Birth-Weight Infants. Nutrients 14 (23) (2022)
Hazuki Tamada, Yuki Ito, Takeshi Ebara, Sayaka Kato, Kayo Kaneko, Taro Matsuki, Mayumi Sugiura-Ogasawara, Shinji Saitoh, Michihiro Kamijima
Epidemiological Studies of Children's Gut Microbiota: Validation of Sample Collection and Storage Methods and Microbiota Analysis of Toddlers' Feces Collected from Diapers. Nutrients 14 (16) (2022)
Daiki Kato, Satomi Mitsuhashi, Fuyuki Miya, Shinji Saitoh, Nobuhiko Okamoto, Tatushiko Tsunoda, Yuta Kochi
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases. Journal of human genetics 67 (12) (2022)
Shinji Saitoh
Endosomal Recycling Defects and Neurodevelopmental Disorders. Cells 11 (1) (2022)
Asuka Shimozato, Kei Ohashi, Shinji Saitoh
Two case reports of extended-release Guanfacine overdose in children. Pediatrics international : official journal of the Japan Pediatric Society (2022)
Yasuhisa Nakamura, Sachiko Iwata, Kyoko Yokoi, Yuko Mizutani, Masatoshi Yoshikane, Koya Kawase, Takenori Kato, Satoru Kobayashi, Haruo Goto, Shinji Saitoh, Osuke Iwata
Influence of Intrauterine Inflammation, Delivery, and Postnatal Feeding on the Temporal Changes of Serum Alpha 1 Acid Glycoprotein Levels in Extremely-Low-Birth-Weight Infants. Nutrients 14 (23) (2022)
Yukiyo Nagai, Yuko Mizutani, Kayo Nomura, Osamu Uemura, Shinji Saitoh, Osuke Iwata
Diagnostic rate of autism spectrum disorder in a high-survival cohort of children born very preterm: A cross-sectional study. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 82 (2) (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)
Yasuhisa Nakamura, Sachiko Iwata, Kyoko Yokoi, Yuko Mizutani, Masatoshi Yoshikane, Koya Kawase, Takenori Kato, Satoru Kobayashi, Haruo Goto, Shinji Saitoh, Osuke Iwata
Influence of Intrauterine Inflammation, Delivery, and Postnatal Feeding on the Temporal Changes of Serum Alpha 1 Acid Glycoprotein Levels in Extremely-Low-Birth-Weight Infants. Nutrients 14 (23) (2022)
Takayuki Ishida, Kazutaka Suzuki, Satoshi Koyama, Tsutomu Shinohara, Shinji Saitoh
Acute myocarditis following coronavirus disease 2019 vaccination in a 14-year-old Japanese boy. Pediatrics international : official journal of the Japan Pediatric Society 64 (1) (2022)
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J Cullen, Shinji Saitoh, Kohji Kato
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome. Journal of medical genetics (2022)
Yasuhisa Nakamura, Sachiko Iwata, Kyoko Yokoi, Yuko Mizutani, Masatoshi Yoshikane, Koya Kawase, Takenori Kato, Satoru Kobayashi, Haruo Goto, Shinji Saitoh, Osuke Iwata
Influence of Intrauterine Inflammation, Delivery, and Postnatal Feeding on the Temporal Changes of Serum Alpha 1 Acid Glycoprotein Levels in Extremely-Low-Birth-Weight Infants. Nutrients 14 (23) (2022)
Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ayako Hattori, Anna Shiraki, Seiji Mizuno, Shinji Saitoh
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction. Journal of human genetics (2022)
Yo Hamaguchi, Hiroyuki Mishima, Tomoko Kawai, Shinji Saitoh, Kenichiro Hata, Akira Kinoshita, Koh-Ichiro Yoshiura
Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing. Journal of human genetics 67 (12) (2022)
Kozue Hayakawa, Koya Kawase, Masanori Fujimoto, Yuji Nakamura, Shinji Saitoh
Utility of breakpoint-specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome. Pediatrics international : official journal of the Japan Pediatric Society 63 (12) (2021)
Kei Ohashi, Satomi Fukuhara, Taishi Miyachi, Tomoko Asai, Masayuki Imaeda, Masahide Goto, Yoshie Kurokawa, Tatsuya Anzai, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Takanori Yamagata, Shinji Saitoh
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings. Journal of autism and developmental disorders 51 (12) (2021)
Kohji Kato, Fuyuki Miya, Yasuyoshi Oka, Seiji Mizuno, Shinji Saitoh
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders. Journal of human genetics 66 (5) (2020)
Akihisa Okumura, Shingo Numoto, Hideyuki Iwayama, Hirokazu Kurahashi, Jun Natsume, Shinji Saitoh, Tetsushi Yoshikawa, Toshiyuki Fukao, Masahiro Hirayama, Yoshiyuki Takahashi
Respiratory illness and acute flaccid myelitis in the Tokai district in 2018. Pediatrics international : official journal of the Japan Pediatric Society 62 (3) (2020)
Jiro Abe, Atsuhito Takeda, Shinji Saitoh
A case of tricuspid atresia with Prader-Willi syndrome. Pediatrics international : official journal of the Japan Pediatric Society 62 (9) (2020)
Yuto Kondo, Kohei Aoyama, Hisato Suzuki, Ayako Hattori, Ikumi Hori, Koichi Ito, Aya Yoshida, Mari Koroki, Kentaro Ueda, Kenjiro Kosaki, Shinji Saitoh
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes. Human genome variation 7 (2020)
Noriko Miyake, Shermineh Heydari, Masoud Garshasbi, Shinji Saitoh, Jafar Nasiri, Kohei Hamanaka, Atsushi Takata, Naomichi Matsumoto, Farnaz Hosseini Beheshti, Ahmad Reza Salehi Chaleshtori
The identification of two pathogenic variants in a family with mild and severe forms of developmental delay. Journal of human genetics 66 (4) (2020)
Ikumi Hori, Takeshi Tsuji, Misa Miyake, Kazuto Ueda, Erina Kataoka, Michio Suzuki, Satoru Kobayashi, Hirokazu Kurahashi, Yoshiyuki Takahashi, Akihisa Okumura, Tetsushi Yoshikawa, Shinji Saitoh, Jun Natsume
Delayed recognition of childhood arterial ischemic stroke. Pediatrics international : official journal of the Japan Pediatric Society 61 (9) (2020)
Taro Matsuki, Takeshi Ebara, Hazuki Tamada, Yuki Ito, Yasuyuki Yamada, Hirohisa Kano, Takahiro Kurihara, Hirotaka Sato, Sayaka Kato, Shinji Saitoh, Mayumi Sugiura-Ogasawara, Michihiro Kamijima, null The Japan Environment And Children's Study Jecs Group
Association between Prenatal Exposure to Household Pesticides and Neonatal Weight and Length Growth in the Japan Environment and Children's Study. International journal of environmental research and public health 17 (12) (2020)
Nobuhiro Suzumori, Takeshi Ebara, Taro Matsuki, Yasuyuki Yamada, Sayaka Kato, Toyonori Omori, Shinji Saitoh, Michihiro Kamijima, Mayumi Sugiura-Ogasawara, null null
Effects of long working hours and shift work during pregnancy on obstetric and perinatal outcomes: A large prospective cohort study-Japan Environment and Children's Study. Birth (Berkeley, Calif.) 47 (1) (2019)
Yuji Nakamura, Yusuke Okuno, Hideki Muramatsu, Tomoko Kawai, Kazuhito Satou, Daisuke Ieda, Ikumi Hori, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Yoshiyuki Takahashi, Seiji Kojima, Shinji Saitoh
A novel CUL4B splice site variant in a young male exhibiting less pronounced features. Human genome variation 6 (2019)
Jun Ishii, Atsushi Suzuki, Toru Kimura, Michihiro Tateyama, Tatsushi Tanaka, Takuya Yazawa, Yu Arimasu, I-Shan Chen, Kohei Aoyama, Yoshihiro Kubo, Shinji Saitoh, Haruo Mizuno, Hiroshi Kamma
Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7. Communications biology 2 (2019)
Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy. Orphanet journal of rare diseases 14 (1) (2019)
Takeshi Ebara, Yasuyuki Yamada, Naoto Shoji, Yuki Ito, Atsuko Nakagawa, Taishi Miyachi, Yasuhiko Ozaki, Toyonori Omori, Sadao Suzuki, Masayo Kojima, Jun Ueyama, Motohiro Tomizawa, Sayaka Kato, Tomoko Oguri, Taro Matsuki, Hirotaka Sato, Naoko Oya, Mayumi Sugiura-Ogasawara, Shinji Saitoh, Michihiro Kamijima
Cohort profile: Aichi regional sub-cohort of the Japan Environment and Children's Study (JECS-A). BMJ open 9 (11) (2019)
Sachiko Iwata, Masahiro Kinoshita, Fumie Fujita, Kennosuke Tsuda, Mitsuaki Unno, Takashi Horinouchi, Seiichi Morokuma, Shinji Saitoh, Osuke Iwata
Peripartum depression and infant care, sleep and growth. Scientific reports 9 (1) (2019)
Daisuke Ieda, Ikumi Hori, Yuji Nakamura, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Atsuko Arisaka, Setsuko Hasegawa, Shinji Saitoh
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome. Human genome variation 6 (2019)
Ikumi Hori, Fuyuki Miya, Yutaka Negishi, Ayako Hattori, Naoki Ando, Keith A Boroevich, Nobuhiko Okamoto, Mitsuhiro Kato, Tatushiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome. Journal of human genetics 63 (9) (2018)
Teiko Yoshizuka, Masahiro Kinoshita, Sachiko Iwata, Kennosuke Tsuda, Takenori Kato, Mamoru Saikusa, Ryota Shindou, Naoko Hara, Eimei Harada, Sachio Takashima, Nobuyuki Takeshige, Shinji Saitoh, Yushiro Yamashita, Osuke Iwata
Estimation of elevated intracranial pressure in infants with hydroce-phalus by using transcranial Doppler velocimetry with fontanel compression. Scientific reports 8 (1) (2018)
Daichi Shigemizu, Fuyuki Miya, Shintaro Akiyama, Shujiro Okuda, Keith A Boroevich, Akihiro Fujimoto, Hidewaki Nakagawa, Kouichi Ozaki, Shumpei Niida, Yonehiro Kanemura, Nobuhiko Okamoto, Shinji Saitoh, Mitsuhiro Kato, Mami Yamasaki, Tatsuo Matsunaga, Hideki Mutai, Kenjiro Kosaki, Tatushiko Tsunoda
IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis. Scientific reports 8 (1) (2018)
Daichi Shigemizu, Fuyuki Miya, Shintaro Akiyama, Shujiro Okuda, Keith A Boroevich, Akihiro Fujimoto, Hidewaki Nakagawa, Kouichi Ozaki, Shumpei Niida, Yonehiro Kanemura, Nobuhiko Okamoto, Shinji Saitoh, Mitsuhiro Kato, Mami Yamasaki, Tatsuo Matsunaga, Hideki Mutai, Kenjiro Kosaki, Tatushiko Tsunoda
Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis. Scientific reports 8 (1) (2018)
Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Scientific reports 7 (1) (2017)
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. Journal of human genetics 62 (9) (2017)
Daniela Tiaki Uehara, Shin Hayashi, Nobuhiko Okamoto, Seiji Mizuno, Yasutsugu Chinen, Rika Kosaki, Tomoki Kosho, Kenji Kurosawa, Hiroshi Matsumoto, Hiroshi Mitsubuchi, Hironao Numabe, Shinji Saitoh, Yoshio Makita, Akira Hata, Issei Imoto, Johji Inazawa
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements. Journal of human genetics 61 (4) (2016)