研究業績

  1. 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 (accepted).
  2. 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. 2021. Online ahead of print.
  3. 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. 2021 doi: 10.2169/internalmedicine.8137-21. Online ahead of print,2021
  4. 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. 2021 Nov 5:S0387-7604(21)00189-3. doi: 10.1016/j.braindev.2021.10.004. Online ahead of print.
  5. 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. 2021 Sep 28:S0387-7604(21)00177-7. doi: 10.1016/j.braindev.2021.09.006. Online ahead of print.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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
  12. 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.
  13. 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.　 Brain Dev. 43(1):2-31, 2021
  14. 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
  15. 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.
  16. 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.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
  21. 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.
  22. 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.
  23. 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.
  24. 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.
  25. 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.
  26. 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.
  27. 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.
  28. 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.
  29. 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.
  30. 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.
  31. 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.
  32. 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.
  33. 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. JIMD Rep. 43:85-90, 2019.