研究業績

2025年
  1. Ozawa Y, Hikoya A, Tachibana N, Komori M, Fukuda T, Ishigaki H, Hiraide T, Sato M. Vitamin A Deficiency in Children With Autism Spectrum Disorder. Cureus. 2025 Jan 8;17(1):e77129.
  2. 林 泰壽, 遠藤 雄策, 織田 海秀, 漆畑 伶, 石垣 英俊, 平出 拓也, 才津　浩智, 福田 冬季子. 全般性発達遅滞，特徴的顔貌，心室中隔欠損症を呈した9pトリソミーの1例.浜松医科大学小児科学雑誌.5(1):p.30-36:2025.03.
2024年
  1. Yoneno S, Yamamoto K, Tabata K, Shimizu-Motohashi Y, Tomita A, Hayashi T, Maki H, Sato N, Inoue K, Saitsu H, Komaki H.A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis.J Hum Genet. 2024 Nov;69(11):607-611.
  2. Komatsu K, Kato M, Kubota K, Fukumura S, Yamada K, Hori I, Shimizu K, Miyamoto S, Yamoto K, Hiraide T, Watanabe K, Aoki S, Furukawa S, Hayashi T, Isogai M, Harasaki T, Nakashima M, Saitsu H. Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing. Sci Rep. 2024 Oct 21;14(1):24746.
  3. Takuya Hiraide, Wakako Yoshioka, Yusuke Ito, Rei Urushibata, Taiju Hayashi, Hidetoshi Ishigaki, Ichizo Nishino, Tokiko Fukuda. Familial hyperCKemia with exercise-induced myalgia associated with a novel missense variant in RYR1. Brain and Development Case Reports 2(3) 100025-100025.
  4. Kazuo Kubota, Takuya Hiraide, Mina Nakama, Miho Adachi, Mitsuko Nakashima, Hirotomo Saitsu, Hidenori Ohnishi. GRIN2A-related disorder causes profound developmental delay and a disorder affecting movement. Brain and Development Case Reports 2(3) 100034-100034
  5. Sugiura T, Urushibata R, Fukaya S, Shioda T, Fukuoka T, Iwata O. Dependence of Successful Airway Management in Neonatal Simulation Manikins on the Type of Supraglottic Airway Device and Providers' Backgrounds. Children (Basel). 2024 Apr 28;11(5):530.
  6. Hiraide T, Hayashi T, Ito Y, Urushibata R, Uchida H, Kitagata R, Ishigaki H, Ogata T, Saitsu H, Fukuda T. Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome. Front Pediatr. 2024 Apr 3;12:1360867.
  7. Kawakami R, Hiraide T, Watanabe K, Miyamoto S, Hira K, Komatsu K, Ishigaki H, Sakaguchi K, Maekawa M, Yamashita K, Fukuda T, Miyairi I, Ogata T, Saitsu H. RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing. J Hum Genet. 2024 Feb;69(2):91-99.
  8. 漆畑 伶, 平出 拓也, 大石 知也, 山田 智史, 林 泰壽, 加納 康太郎, 石垣 英俊, 黒住 和彦, 宮入 烈, 福田 冬季子. 前頭洞炎の頭蓋内・頭蓋骨外進展 Pott's puffy tumorと硬膜下膿瘍を発症した2症例の報告. 浜松医科大学小児科学雑誌. 4(1):28-36:2024.03.
  9. 長坂 萌那, 平出 拓也, 漆畑 伶, 石垣 英俊, 宮入 烈, 福田 冬季子. 髄膜炎脳炎マルチプレックスPCRが診断に有用であったヒトパレコウイルス3型による急性脳症の新生児例. 浜松医科大学小児科学雑誌. 4(1):21-27:2024.03.
2023年
  1. Fukuda T, Ito T, Hamazaki T, Inui A, Ishige M, Kagawa R, Sakai N, Watanabe Y, Kobayashi H, Wasaki Y, Taura J, Imamura Y, Tsukiuda T, Nakamura K. Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study. J Inherit Metab Dis. 2023 Jul;46(4):618-633.
  2. Hiraide T, Shimizu K, Okumura Y, Miyamoto S, Nakashima M, Ogata T, Saitsu H. A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome. J Hum Genet. 2023 Jul;68(7):499-505.
  3. Hiraide T, Akita T, Uematsu K, Miyamoto S, Nakashima M, Sasaki M, Fukuda A, Kato M, Saitsu H. A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome. J Hum Genet. 2023 Jan;68(1):25-31.
  4. 伊藤 あかね, 平出 拓也, 古澤 有花子, 松本 由里香, 河崎 知子, 鶴井 聡, 才津 浩智, 緒方 勤, 福田 冬季子. c.116G>A,p.(Arg39His)ホモ接合性バリアントが同定された一過性眼振を伴う遊離シアル酸蓄積症の姉弟例. 浜松医科大学小児科学雑誌. 3(1):36-44:2023.03
2022年
  1. Sugihara K, Yuasa M, Isozaki Y, Hata I, Ohshima Y, Hamazaki T, Kakiuchi T, Arao M, Igarashi N, Kotani Y, Fukuda T, Kagawa R, Tajima G, Shigematsu Y. Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test. Pediatr Res. 2022 Nov;92(5):1391-1399.
  2. Baba K, Fukuda T, Furuta M, Tada S, Imai A, Asano Y, Sugie H, P Takahashi M, Mochizuki H. A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review. Intern Med. 2022 Dec 1;61(23):3589-3594.
  3. Mori-Yoshimura M, Aizawa K, Oya Y, Saito Y, Fukuda T, Sugie H, Nishino I, Takahashi Y. A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review. Neuromuscul Disord. 2022 Sep;32(9):769-773.
  4. Munekane A, Ohsawa Y, Fukuda T, Nishimura H, Nishimatsu SI, Sugie H, Saito Y, Nishino I, Sunada Y. Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency. Intern Med. 2022 Apr 15;61(8):1241-1245.
  5. Hiraide T, Shimizu K, Miyamoto S, Aoto K, Nakashima M, Yamaguchi T, Kosho T, Ogata T, Saitsu H. Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing. J Hum Genet. 2022 Jul;67(7):387-392.
  6. Saito Y, Nakamura K, Fukuda T, Sugie H, Hayashi S, Noguchi S, Nishino I. Muscle biochemical and pathological diagnosis in Pompe disease. J Neurol Neurosurg Psychiatry. 2022 Apr 25:jnnp-2022-329085.
  7. 林 泰壽, 伊藤 祐介, 漆畑 伶, 石垣 英俊, 平出 拓也, 福田 冬季子. CACNA1Sにミスセンス変異を認めた低カリウム性周期性四肢麻痺の1家系例. 浜松医科大学小児科学雑誌. 2(1):30-36:2022.03.
  8. Hiraide T, Masunaga Y, Honda A, Kato F, Fukuda T, Fukami M, Nakashima M, Saitsu H, Ogata T. Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata. J Hum Genet. 2022 May;67(5):303-306..
  9. Mori T, Ishikawa A, Shigetomi H, Fukuda T, Sugie H. A novel PHKA2 variant in a Japanese boy with glycogen storage diseases type IXa. Pediatr Int. 2022 Jan;64(1):e14839.
  10. Matsushita HB, Hiraide T, Hayakawa K, Okano S, Nakashima M, Saitsu H, Kato M. Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation. Brain Dev. 2022 Feb;44(2):161-165.
  11. Fukumura S, Hiraide T, Yamamoto A, Tsuchida K, Aoto K, Nakashima M, Saitsu H. A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay. Brain Dev. 2022 Feb;44(2):178-183.
2021年
  1. Hiraide T, Tanaka T, Masunaga Y, Ohkubo Y, Nakashima M, Fukuda T, Ogata T, Saitsu H. Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant. J Hum Genet. 2021;66:1185-1187.
  2. Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N. OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.Front Cell Dev Biol. 3;9:631428, 2021.
  3. Hiraide T, Wada Y, Matsubayashi T, Kadoya M, Masunaga Y, Ohkubo Y, Nakashima M, Okamoto N, Ogata T, Saitsu H. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. Brain Dev. 2021;43:945-951.
  4. Miyamoto S, Kato M, Hiraide T, Shiohama T, Goto T, Hojo A, Ebata A, Suzuki M, Kobayashi K, Chong PF, Kira R, Matsushita HB, Ikeda H, Hoshino K, Matsufuji M, Moriyama N, Furuyama M, Yamamoto T, Nakashima M, Saitsu H. Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies. J Hum Genet. 2021;66:1061-1068.
  5. Yanagishita T, Hiraide T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. HECW2-related disorder in four Japanese patients. Am J Med Genet A. 2021;185:2895-2902.
  6. Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saitsu H.Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.Clin Genet. 100:40-50, 2021
  7. Hiraide T, Fukumura S, Yamamoto A, Nakashima M, Saitsu H. Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance. Brain Dev. 2021;43:470-474.
  8. Mizuguchi M*, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y. Guidelines for the diagnosis and treatment of acute encephalopathy in childhood. ain Dev. 43(1):2-31, 2021
  9. 伊藤 祐介, 石垣 英俊, 漆畑 伶, 平出 拓也, 杉江 秀夫, 鈴木 寛子, 佐藤 美保, 福田 冬季子. 小児期発症の不全型Susac症候群の1例. 浜松医科大学小児科学雑誌 1(1) 30-35 2021年3月
2020年
  1. Fuseya Y, Sakurai T, Miyahara JI, Sato K, Kaji S, Saito Y, Takahashi M, Nishino I, Fukuda T, Sugie H, Yamashita H*. A Case of Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations. Intern Med. Intern Med. 59:2729-2732, 2020
  2. Ichimoto K*, Fujisawa T, Shimura M, Fushimi T, Tajika M, Matsunaga A, Ogawa-Tominaga M, Akiyama N, Naruke Y, Horie H, Fukuda T, Sugie H, Inui A, Murayama K. Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology. Mol Genet Metab Rep. doi: 10.1016/j.ymgmr.2020.100601. 2020.
  3. Ikemoto S, Hamano SI, Kikuchi K, Koichihara R, Hirata Y, Matsuura R, Hiraide T, Nakashima M, Inoue K, Kurosawa K, Saitsu H. A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay. Brain Dev. 2020;42:603-606.
  4. Hiraide T, Nakashima M, Ikeda T, Tanaka D, Osaka H, Saitsu H. Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy. J Hum Genet. 2020;65:921-925.
  5. Ozaki A, Sasaki M, Hiraide T, Sumitomo N, Takeshita E, Shimizu-Motohashi Y, Ishiyama A, Saito T, Komaki H, Nakagawa E, Sato N, Nakashima M, Saitsu H. A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis. Brain Dev. 2020;42:462-467.
  6. Hiraide T, Watanabe S, Matsubayashi T, Yanagi K, Nakashima M, Ogata T, Saitsu H. A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder. Mol Genet Genomic Med. 2020;8:e1145.
  7. Hiraide T, Kubota K, Kono Y, Watanabe S, Matsubayashi T, Nakashima M, Kaname T, Fukao T, Shimozawa N, Ogata T, Saitsu H. POLR3A variants in striatal involvement without diffuse hypomyelination. Brain Dev. 2020;42:363-368.
  8. Miyamoto S, Aoto K, Hiraide T, Nakashima M, Takabayashi S, Saitsu H. Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse line. Congenit Anom (Kyoto). 2020;60:120-125.
2019年
  1. Itamura S, Okanishi T*, Arai Y, Nishimura M, Baba S, Ichikawa N, Hirayama Y, Ishihara N, Hiraide T, Ishigaki H, Fukuda T, Otsuki Y, Enoki H, Fujimoto A.Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIId. Front Neurol. 2019 20;10:1233. doi: 10.3389/fneur.2019.01233. 2019.
  2. Fukuda T*, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. Eur J Med Genet. 63:103804. doi: 10.1016/j.ejmg. 2020.
  3. Tanaka M, Natsume J*, Hamano SI, Iyoda K, Kanemura H, Kubota M, Mimaki M, Niijima SI, Tanabe T, Yoshinaga H, Kojimahara N, Komaki H, Sugai K, Fukuda T, Maegaki Y, Sugie H. The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan. Brain Dev. 42:28-34, 2020.
  4. Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM. A genome-wide DNA methylation signature for SETD1B-related syndrome.Clin Epigenetics. 11(1):156. doi: 10.1186/s13148-019-0749-3. 2019.
  5. Hiraide T, Hattori A, Ieda D, Hori I, Saitoh S, Nakashima M, Saitsu H. De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences. Epilepsia Open. 2019;4:476-481.
  6. Hiraide T, Kaba Yasui H, Kato M, Nakashima M, Saitsu H. A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly. J Hum Genet. 2019;64:1127-1132.
  7. Miyamoto S, Nakashima M, Ohashi T, Hiraide T, Kurosawa K, Yamamoto T, Takanashi J, Osaka H, Inoue K, Miyazaki T, Wada Y, Okamoto N, Saitsu H. A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. Mol Genet Genomic Med. 2019;7:e814.
  8. Ago Y, Sugie H, Fukuda T, Otsuka H, Sasai H, Nakama M, Abdelkreem E, Fukao T*. A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia.
JIMD Rep. 48:15-18, 2019.
  1. Hiraide T*, Ogata T, Watanabe S, Nakashima M, Fukuda T, Saitsu H. Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.　Brain Dev. 41:474-479, 2019.
  2. Nakashima M*, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, Yamoto K, Hiraide T, Fukuda T, Kaname T, Nakabayashi K, Hata K, Ogata T, Saitsu H, Matsumoto N. Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. J Hum Genet. 64:313-322, 2019.
  3. Iijima H, Iwano R, Tanaka Y, Muroya K, Fukuda T, Sugie H, Kurosawa K, Adachi M*. Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review. Mol Genet Metab Rep. 13;17:31-37, 2018.
  4. Yokoi K, Nakajima Y, Ohye T, Inagaki H, Wada Y, Fukuda T, Sugie H, Yuasa I, Ito T, Kurahashi H*. Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion. JIMD Rep. 43:85-90, 2019.