Hirotomo Saitsu

ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 75

Top Venues

Journal of human genetics

Human genome variation

Congenital anomalies

Human mutation

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

Publications

Shin-Ichi Tomizawa, Rachel Fellows, Michio Ono, Kazushige Kuroha, Ivana Dočkal, Yuki Kobayashi, Keisuke Minamizawa, Koji Natsume, Kuniko Nakajima, Ikue Hoshi, Shion Matsuda, Masahide Seki, Yutaka Suzuki, Kazushi Aoto, Hirotomo Saitsu, Kazuyuki Ohbo
A non-canonical bivalent gene Wfdc15a controls spermatogenic protease and immune homeostasis. Development (Cambridge, England) (2024)
Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, Tomohiro Kumada, Takeshi Yoshida, Eri Takeshita, Pin Fee Chong, Hideo Yamanouchi, Yuko Kotake, Takayoshi Kyoda, Toshihiro Nomura, Yohane Miyata, Mitsuko Nakashima, Hirotomo Saitsu
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield. Journal of human genetics (2024)
Shota Yoneno, Kaoru Yamamoto, Kenshiro Tabata, Yuko Shimizu-Motohashi, Ayaka Tomita, Taiju Hayashi, Hiroyuki Maki, Noriko Sato, Ken Inoue, Hirotomo Saitsu, Hirofumi Komaki
A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis. Journal of human genetics (2024)
Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus. Human genome variation 10 (1) (2023)
Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita, Tokiko Fukuda, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing. Journal of human genetics (2023)
Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita, Tokiko Fukuda, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing. Journal of human genetics 69 (2) (2023)
Kazuki Watanabe, Kazuo Kubota, Mitsuko Nakashima, Hirotomo Saitsu
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1. Human genome variation 10 (1) (2023)
Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, Noriyuki Azuma, Yuichi Hori, Yoshihiro Hotta
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene. Human genome variation 10 (1) (2023)
Kaoruko Torii, Sachiko Nishina, Hazuki Morikawa, Kei Mizobuchi, Masakazu Takayama, Nobutaka Tachibana, Kentaro Kurata, Akiko Hikoya, Miho Sato, Tadashi Nakano, Maki Fukami, Noriyuki Azuma, Takaaki Hayashi, Hirotomo Saitsu, Yoshihiro Hotta
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1 -Related Retinal Dystrophy in Japanese Patients. International journal of molecular sciences 24 (18) (2023)
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, Sachiko Miyamoto, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome. Journal of human genetics (2023)
Kaori Yamoto, Fumiko Kato, Masaya Yamoto, Koji Fukumoto, Kenji Shimizu, Hirotomo Saitsu, Tsutomu Ogata
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis. Congenital anomalies (2023)
Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita, Tokiko Fukuda, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing. Journal of human genetics 69 (2) (2023)
Kazuki Watanabe, Mitsuko Nakashima, Rie Wakatsuki, Tomoyasu Bunai, Yasuomi Ouchi, Tomohiko Nakamura, Hiroaki Miyajima, Hirotomo Saitsu
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo. Neurology. Genetics 8 (3) (2022)
Shogo Furukawa, Sachiko Miyamoto, Shinobu Fukumura, Kazuo Kubota, Toshiaki Taga, Mitsuko Nakashima, Hirotomo Saitsu
Two novel heterozygous variants in ATP1A3 cause movement disorders. Human genome variation 9 (1) (2022)
Mitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, Elliott H Sherr, Mitsuhiro Kato, Hirotomo Saitsu
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. Journal of human genetics (2022)
Yohei Masunaga, Yumiko Ohkubo, Gen Nishimura, Taizo Ueno, Yasuko Fujisawa, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
ACAN biallelic variants in a girl with severe idiopathic short stature. Journal of human genetics 67 (8) (2022)
Marina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Takanori Yamagata, Hitoshi Osaka
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia. Human genome variation 9 (1) (2022)
Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata
The ATRX splicing variant c.21-1G>A is asymptomatic. Human genome variation 9 (1) (2022)
Sachiko Miyamoto, Mitsuko Nakashima, Shinobu Fukumura, Satoko Kumada, Hirotomo Saitsu
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation. Neurogenetics 23 (2) (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)
Takuya Hiraide, Tenpei Akita, Kenji Uematsu, Sachiko Miyamoto, Mitsuko Nakashima, Masayuki Sasaki, Atsuo Fukuda, Mitsuhiro Kato, Hirotomo Saitsu
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome. Journal of human genetics (2022)
Takuya Hiraide, Yohei Masunaga, Akira Honda, Fumiko Kato, Tokiko Fukuda, Maki Fukami, Mitsuko Nakashima, Hirotomo Saitsu, Tsutomu Ogata
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata. Journal of human genetics 67 (5) (2022)
Kazuo Abe, Kumiko Ando, Mitsuhiro Kato, Hirotomo Saitsu, Mitsuko Nakashima, Shintaro Aoki, Takashi Kimura
A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3 . Neurology. Genetics 8 (3) (2022)
Mitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, Elliott H Sherr, Mitsuhiro Kato, Hirotomo Saitsu
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. Journal of human genetics (2022)
Hiroki Mutoh, Kazushi Aoto, Takehiro Miyazaki, Atsuo Fukuda, Hirotomo Saitsu
Elucidation of pathological mechanism caused by human disease mutation in CaMKIIβ. Journal of neuroscience research 100 (3) (2022)
Takuya Hiraide, Taihei Tanaka, Yohei Masunaga, Yumiko Ohkubo, Mitsuko Nakashima, Tokiko Fukuda, Tsutomu Ogata, Hirotomo Saitsu
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant. Journal of human genetics 66 (12) (2021)
Kazuki Watanabe, Mitsuko Nakashima, Satoko Kumada, Hideaki Mashimo, Mikako Enokizono, Keitaro Yamada, Mitsuhiro Kato, Hirotomo Saitsu
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review. Journal of human genetics 66 (12) (2021)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Sachiko Nishina, Katsuhiro Hosono, Shizuka Ishitani, Kenjiro Kosaki, Tadashi Yokoi, Tomoyo Yoshida, Kaoru Tomita, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata, Tohru Ishitani, Yoshihiro Hotta, Noriyuki Azuma
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome. Journal of human genetics 66 (10) (2021)
Sachiko Miyamoto, Mitsuhiro Kato, Takuya Hiraide, Tadashi Shiohama, Tomohide Goto, Akira Hojo, Akio Ebata, Manabu Suzuki, Kozue Kobayashi, Pin Fee Chong, Ryutaro Kira, Hiroko Baber Matsushita, Hiroko Ikeda, Kyoko Hoshino, Mayumi Matsufuji, Nobuko Moriyama, Masayuki Furuyama, Tatsuya Yamamoto, Mitsuko Nakashima, Hirotomo Saitsu
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies. Journal of human genetics 66 (11) (2021)
Toshiyuki Itai, Satoko Miyatake, Taku Hatano, Nobutaka Hattori, Atsuko Ohno, Yusuke Aoki, Kazuya Itomi, Harushi Mori, Hirotomo Saitsu, Naomichi Matsumoto
Cerebrovascular diseases in two patients with entire NSD1 deletion. Human genome variation 8 (1) (2021)
Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita, Mitsuko Nakashima, Hiroki Mutoh, Noriyuki Akasaka, Jun Tohyama, Yoshiko Nomura, Kyoko Hoshino, Yasuhiko Ago, Ryuta Tanaka, Orna Epstein, Revital Ben-Haim, Eli Heyman, Takehiro Miyazaki, Hazrat Belal, Shuji Takabayashi, Chihiro Ohba, Atsushi Takata, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice. Nature communications 12 (1) (2021)
Satoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, Tomonori Hirose, Eriko Koshimizu, Takaaki Matsui, Hideyuki Takeuchi, Hiroshi Doi, Keisuke Hamada, Mitsuko Nakashima, Kazunori Sasaki, Akio Yamashita, Atsushi Takata, Kohei Hamanaka, Mai Satoh, Takabumi Miyama, Yuri Sonoda, Momoko Sasazuki, Hiroyuki Torisu, Toshiro Hara, Yasunari Sakai, Yushi Noguchi, Mazumi Miura, Yoko Nishimura, Kazuyuki Nakamura, Hideyuki Asai, Nodoka Hinokuma, Fuyuki Miya, Tatushiko Tsunoda, Masami Togawa, Yukihiro Ikeda, Nobusuke Kimura, Kaoru Amemiya, Asako Horino, Masataka Fukuoka, Hiroko Ikeda, Goni Merhav, Nina Ekhilevitch, Masaki Miura, Takeshi Mizuguchi, Noriko Miyake, Atsushi Suzuki, Shouichi Ohga, Hirotomo Saitsu, Hidehisa Takahashi, Fumiaki Tanaka, Kazuhiro Ogata, Chiaki Ohtaka-Maruyama, Naomichi Matsumoto
De novo ATP1A3 variants cause polymicrogyria. Science advances 7 (13) (2021)
Sachiko Miyamoto, Mitsuhiro Kato, Kenji Sugiyama, Ryo Horiguchi, Mitsuko Nakashima, Kazushi Aoto, Hiroki Mutoh, Hirotomo Saitsu
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies. Journal of human genetics 66 (12) (2021)
Jessica Omark, Yohei Masunaga, Mark Hannibal, Brandon Shaw, Maki Fukami, Fumiko Kato, Hirotomo Saitsu, Masayo Kagami, Tsutomu Ogata
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3. Journal of human genetics 66 (4) (2020)
Akira Ikeya, Mitsuko Nakashima, Miho Yamashita, Keisuke Kakizawa, Yuta Okawa, Hirotomo Saitsu, Shigekazu Sasaki, Hironobu Sasano, Takafumi Suda, Yutaka Oki
CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant. PloS one 15 (4) (2020)
Shiroh Miura, Kengo Kosaka, Tomofumi Shimojo, Eiji Matsuura, Kazuhito Noda, Ryuta Fujioka, Shin-Ichiro Mori, Fujio Umehara, Toru Iwaki, Ken Yamamoto, Hirotomo Saitsu, Hiroki Shibata
Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough. Journal of human genetics 65 (9) (2020)
Takuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, Daisuke Tanaka, Hitoshi Osaka, Hirotomo Saitsu
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy. Journal of human genetics 65 (10) (2020)
Masamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, Hideaki Mashimo, Satoko Kumada, Keiko Ishigaki, Nobuhiko Okamoto, Mahdiyeh Behnam, Mohsen Ghadami, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. Journal of human genetics 66 (4) (2020)
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
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. Journal of human genetics 65 (9) (2020)
Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou, Ines Brösse, Markus Ries, Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Winnie P Ong, Hui Bein Chew, Kavitha Rethanavelu, Emmanuelle Ranza, Xavier Blanc, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Yoshiteru Azuma, Eriko Koshimizu, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hidehisa Takahashi, Etsuko Miyagi, Yoshinori Tsurusaki, Hiroshi Doi, Masataka Taguri, Stylianos E Antonarakis, Mitsuko Nakashima, Hirotomo Saitsu, Satoko Miyatake, Naomichi Matsumoto
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Human mutation 42 (1) (2020)
Hitoshi Kashiki, Heng Li, Sachiko Miyamoto, Hiroe Ueno, Yoshinori Tsurusaki, Chizuru Ikeda, Hirofumi Kurata, Takumi Okada, Tomoyuki Shimazu, Hoseki Imamura, Yumi Enomoto, Jun-Ichi Takanashi, Kenji Kurosawa, Hirotomo Saitsu, Ken Inoue
POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy. Neurology. Genetics 6 (6) (2020)
Takuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, Kumiko Yanagi, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder. Molecular genetics & genomic medicine 8 (3) (2020)
Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. Molecular genetics & genomic medicine 7 (8) (2019)
Daisuke Shimizu, Rieko Sakamoto, Kaori Yamoto, Hirotomo Saitsu, Maki Fukami, Gen Nishimura, Tsutomu Ogata
De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation. Journal of human genetics 64 (10) (2019)
Takeshi Mizuguchi, Mitsuko Nakashima, Lip H Moey, Gaik S Ch'ng, Teik-Beng Khoo, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21. Journal of human genetics 64 (4) (2019)
Sachiko Miyamoto, Kazushi Aoto, Takuya Hiraide, Mitsuko Nakashima, Shuji Takabayashi, Hirotomo Saitsu
Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse line. Congenital anomalies 60 (4) (2019)
Mitsuko Nakashima, Jun Tohyama, Eiji Nakagawa, Yoshihiro Watanabe, Ch'ng Gaik Siew, Chieng Siik Kwong, Kaori Yamoto, Takuya Hiraide, Tokiko Fukuda, Tadashi Kaname, Kazuhiko Nakabayashi, Kenichiro Hata, Tsutomu Ogata, Hirotomo Saitsu, Naomichi Matsumoto
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. Journal of human genetics 64 (4) (2019)
Kaori Yamoto, Hirotomo Saitsu, Gen Nishimura, Rika Kosaki, Shinichiro Takayama, Nobuhiko Haga, Hidefumi Tonoki, Akihisa Okumura, Emiko Horii, Nobuhiko Okamoto, Hiroshi Suzumura, Shiro Ikegawa, Fumiko Kato, Yasuko Fujisawa, Eiko Nagata, Shuji Takada, Maki Fukami, Tsutomu Ogata
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2). European journal of human genetics : EJHG 27 (12) (2019)
Tadashi Shiohama, Mitsuko Nakashima, Hajime Ikehara, Mitsuhiro Kato, Hirotomo Saitsu
Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination. Congenital anomalies 60 (3) (2019)
Akira Ohishi, Yohei Masunaga, Shigeo Iijima, Kaori Yamoto, Fumiko Kato, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions. Journal of human genetics 65 (2) (2019)
Takuya Hiraide, Hikari Kaba Yasui, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly. Journal of human genetics 64 (11) (2019)
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-Ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nature communications 10 (1) (2019)
Masahide Fukada, Keitaro Yamada, Shima Eda, Ken Inoue, Chihiro Ohba, Naomichi Matsumoto, Hirotomo Saitsu, Atsuo Nakayama
Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy. Molecular genetics & genomic medicine 7 (7) (2019)
Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa, Shinichi Nakashima, Yumiko Ohkubo, Kumiko Yanagi, Kazuhiko Nakabayashi, Maki Fukami, Yasuko Fujisawa, Tsutomu Ogata
Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. Scientific reports 8 (1) (2018)
Kohei Hamanaka, Satoko Miyatake, Ayelet Zerem, Dorit Lev, Luba Blumkin, Kenji Yokochi, Atsushi Fujita, Eri Imagawa, Kazuhiro Iwama, Mitsuko Nakashima, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Marjo S van der Knaap, Tally Lerman-Sagie, Naomichi Matsumoto
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. Journal of human genetics 63 (12) (2018)
Hazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, Kenji Yokochi, Mariko Taniguchi-Ikeda, Kazushi Aoto, Mohammed Badrul Amin, Azusa Maruyama, Hiroaki Nagase, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Kazumoto Iijima, Shigeaki Nonoyama, Naomichi Matsumoto, Hirotomo Saitsu
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy. Human mutation 39 (8) (2018)
Nami Araya, Yukitoshi Takahashi, Masayuki Shimono, Tomofumi Fukuda, Mitsuhiro Kato, Mitsuko Nakashima, Naomichi Matsumoto, Hirotomo Saitsu
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease. Human genome variation 5 (2018)
Hiroshi Doi, Shigeru Koyano, Satoko Miyatake, Shinji Nakajima, Yuka Nakazawa, Misako Kunii, Atsuko Tomita-Katsumoto, Kayoko Oda, Yukie Yamaguchi, Ryoko Fukai, Shingo Ikeda, Rumiko Kato, Katsuhisa Ogata, Shun Kubota, Noriko Hayashi, Keita Takahashi, Mikiko Tada, Kenichi Tanaka, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Tomoo Ogi, Michiko Aihara, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations. Journal of human genetics 63 (4) (2018)
Sato Suzuki-Muromoto, Keisuke Wakusawa, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Noriko Togashi, Atsuko Kato, Hiroshi Oba, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. Journal of human genetics 63 (6) (2018)
Kohei Hamanaka, Yuji Sugawara, Takeyoshi Shimoji, Tone Irene Nordtveit, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Toshimitsu Suzuki, Kazuhiro Yamakawa, Ingvild Aukrust, Gunnar Houge, Satomi Mitsuhashi, Atsushi Takata, Kazuhiro Iwama, Ahmed Alkanaq, Atsushi Fujita, Eri Imagawa, Takeshi Mizuguchi, Noriko Miyake, Satoko Miyatake, Naomichi Matsumoto
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. European journal of human genetics : EJHG 27 (3) (2018)
Kazuhiro Iwama, Toru Takaori, Ai Fukushima, Jun Tohyama, Akihiko Ishiyama, Chihiro Ohba, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. Journal of human genetics 63 (3) (2018)
Shigeo Takashima, Hirotomo Saitsu, Nobuyuki Shimozawa
Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan. Journal of human genetics 64 (2) (2018)
Katsuhiro Hosono, Sachiko Nishina, Tadashi Yokoi, Satoshi Katagiri, Hirotomo Saitsu, Kentaro Kurata, Daisuke Miyamichi, Akiko Hikoya, Kei Mizobuchi, Tadashi Nakano, Shinsei Minoshima, Maki Fukami, Hiroyuki Kondo, Miho Sato, Takaaki Hayashi, Noriyuki Azuma, Yoshihiro Hotta
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. Scientific reports 8 (1) (2018)
Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. Journal of human genetics 62 (8) (2017)
Hirotomo Saitsu
Folate receptors and neural tube closure. Congenital anomalies 57 (5) (2017)
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)
Elliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto, Mariette J V Hoffer, Claudia A L Ruivenkamp, Mariëlle Alders, Nobuhiko Okamoto, Emilia K Bijlsma, Astrid S Plomp, Simon E Fisher
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. Human mutation 38 (11) (2017)
Gaku Minase, Satoko Miyatake, Shin Nabatame, Hiroshi Arai, Eriko Koshimizu, Takeshi Mizuguchi, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Toshinobu Miyamoto, Kazuo Sengoku, Naomichi Matsumoto
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination. Journal of human genetics 62 (11) (2017)
Ryoko Fukai, Hirotomo Saitsu, Yoshinori Tsurusaki, Yasunari Sakai, Kazuhiro Haginoya, Kazumasa Takahashi, Monika Weisz Hubshman, Nobuhiko Okamoto, Mitsuko Nakashima, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. Journal of human genetics 61 (5) (2016)
Ryoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto, Yasunari Sakai, Aviva Fattal-Valevski, Shiina Masaaki, Yukihiro Kitai, Michiko Torio, Kanako Kojima-Ishii, Kenji Ihara, Veronika Chernuha, Mitsuko Nakashima, Satoko Miyatake, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. Journal of human genetics 61 (5) (2016)
Mitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, Shinsaku Yoshitomi, Masayuki Shimono, Yoshihiro Aoki, Mitsuhiro Kato, Noriko Aida, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Hitoshi Osaka, Hirotomo Saitsu, Naomichi Matsumoto
WDR45 mutations in three male patients with West syndrome. Journal of human genetics 61 (7) (2016)
Kazuhiro Iwama, Masayuki Sasaki, Shinichi Hirabayashi, Chihiro Ohba, Emi Iwabuchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Naomichi Matsumoto
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations. Journal of human genetics 61 (6) (2016)
Atsushi Fujita, Bertrand Isidor, Hugues Piloquet, Pierre Corre, Nobuhiko Okamoto, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. Journal of human genetics 61 (9) (2016)
Yoshinori Tsurusaki, Yasuko Kobayashi, Masataka Hisano, Shuichi Ito, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Noriko Miyake
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. Journal of human genetics 60 (10) (2016)
Hirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saito, Barak Tziperman, Michiko Torio, Satoshi Akamine, Nagahisa Takahashi, Hitoshi Osaka, Takanori Yamagata, Kazuyuki Nakamura, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. European journal of human genetics : EJHG 24 (1) (2015)
Chihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, Kazuo Kubota, Akihiko Ishiyama, Takuya Hiraide, Hirofumi Komaki, Masayuki Sasaki, Satoko Miyatake, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. Journal of human genetics 60 (12) (2015)
Shinobu Fukumura, Chihiro Ohba, Toshihide Watanabe, Kimio Minagawa, Masaru Shimura, Kei Murayama, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto, Hiroyuki Tsutsumi
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. Journal of human genetics 60 (9) (2015)
Eri Imagawa, Ryoko Fukai, Mahdiyeh Behnam, Manisha Goyal, Narges Nouri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Mansour Salehi, Seema Kapoor, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. Human genome variation 2 (2015)
Yoshinori Tsurusaki, Ryuta Tanaka, Shino Shimada, Keiko Shimojima, Masaaki Shiina, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Kazuhiro Ogata, Toshiyuki Yamamoto, Naomichi Matsumoto
Novel compound heterozygous LIAS mutations cause glycine encephalopathy. Journal of human genetics 60 (10) (2015)

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Hirotomo Saitsu