Fujita Atsushi 藤田京志

Researcher Number	20805113
Other IDs
Affiliation (Current)	2025: 横浜市立大学, 医学部, 助教
Affiliation (based on the past Project Information) *help	2020 – 2023: 横浜市立大学, 医学部, 助教 2017 – 2019: 横浜市立大学, 医学研究科, 特任助手
Review Section/Research Field	Principal Investigator Basic Section 56010:Neurosurgery-related / Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics
Keywords	Principal Investigator 次世代シークエンス / 単一遺伝子疾患 / 体細胞変異 / 難治性てんかん / mTOR / 次世代シークエンサー / 限局性皮質異形成 / 視床下部過誤腫 / ディープシークエンス

大頭症を伴う多発奇形症候群の遺伝学的原因の探索Principal Investigator
- Principal Investigator
  
  藤田京志
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Yokohama City University
Elucidation of the genetic causes of focal cortical dysplasia by detection of somatic variants and copy number variantsPrincipal Investigator
- Principal Investigator
  
  FUJITA Atsushi
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 56010:Neurosurgery-related
- Research Institution
  Yokohama City University
高感度な検出系を用いた限局性皮質異形成の責任遺伝子の同定Principal Investigator
- Principal Investigator
  
  藤田京志
- Project Period (FY)
  2019 – 2020
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 56010:Neurosurgery-related
- Research Institution
  Yokohama City University
Elucidation of genetic basis for the brain malformations caused by somatic mosaic mutations.Principal Investigator
- Principal Investigator
  
  Fujita Atsushi
- Project Period (FY)
  2017 – 2018
- Research Category
  
  Grant-in-Aid for Research Activity Start-up
- Research Field
  
  Pediatrics
- Research Institution
  Yokohama City University

All 2024 2023 2022 2019 2018

All Journal Article Presentation

[Journal Article] Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature2024
- Author(s)
  Sonoda Y, Fujita A, Torio M, Mukaino T, Sakata A, Matsukura M, Yonemoto K, Hatae K, Ichimiya Y, Chong PF, Ochiai M, Wada Y, Kadoya M, Okamoto N, Murakami Y, Suzuki T, Isobe N, Shigeto H, Matsumoto N, Sakai Y, Ohga S
- Journal Title
  
  Eur J Med Genet
  
  Volume: 67 Pages: 104895-104895
- DOI
  10.1016/j.ejmg.2023.104895
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-22K07893, KAKENHI-PROJECT-23K06930, KAKENHI-PROJECT-18K15677
[Journal Article] Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders2024
- Author(s)
  Utsuno Y., Hamada K., Hamanaka K., Miyoshi K., Tsuchimoto K., Sunada S., Itai T., Sakamoto M., Tsuchida N., Uchiyama Y., Koshimizu E., Fujita A., Miyatake S., Misawa K., Mizuguchi T., Kato Y., Saito K., Ogata K. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 2 Pages: 69-77
- DOI
  10.1038/s10038-023-01206-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities2024
- Author(s)
  Sakamoto M., Kurosawa K., Tanoue K., Iwama K., Ishida F., Watanabe Y., Okamoto N., Tsuchida N., Uchiyama Y., Koshimizu E., Fujita A., Misawa K., Miyatake S., Mizuguchi T. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 2 Pages: 85-90
- DOI
  10.1038/s10038-023-01209-2
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan2023
- Author(s)
  Ikeda A, Kumaki T, Tsuyusaki Y, Tsuji M, Enomoto Y, Fujita A, Saitsu H, Matsumoto N, Kurosawa K, Goto T
- Journal Title
  
  Front Neurol
  
  Volume: 14 Pages: 1085228-1085228
- DOI
  10.3389/fneur.2023.1085228
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27566
[Journal Article] Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals2023
- Author(s)
  Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Miyatake S, Lupski JR, Houlden H, Matsumoto N.
- Journal Title
  
  Genet Med
  
  Volume: Jan;25(1) Issue: 1 Pages: 90-102
- DOI
  10.1016/j.gim.2022.09.010
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308, KAKENHI-ORGANIZER-21H05158
[Journal Article] A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 82023
- Author(s)
  M. Sakamoto, T. Shiiki, S. Matsui, N. Okamoto, E. Koshimizu, N. Tsuchida, Y. Uchiyama, K. Hamanaka, A. Fujita, S. Miyatake, K. Misawa, T. Mizuguchi and N. Matsumoto
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 4 Pages: 247-253
- DOI
  10.1038/s10038-022-01098-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27568
[Journal Article] ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report2023
- Author(s)
  Moriyama Kengo、Mizuno Tomoko、Suzuki Tomonori、Inaji Motoki、Maehara Taketoshi、Fujita Atsushi、Kato Mitsuhiro、Matsumoto Naomichi
- Journal Title
  
  Brain and Development
  
  Volume: 45 Issue: 1 Pages: 77-81
- DOI
  10.1016/j.braindev.2022.08.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K09341, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K08560
[Journal Article] Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma2023
- Author(s)
  Green TE, Fujita A, Ghaderi N, Heinzen EL, Matsumoto N, Klein KM, Berkovic SF, Hildebrand MS
- Journal Title
  
  Neurobiol Dis
  
  Volume: 185 Pages: 106261-106261
- DOI
  10.1016/j.nbd.2023.106261
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15901
[Journal Article] An integrated genetic analysis of epileptogenic brain malformed lesions2023
- Author(s)
  Atsushi Fujita et al.
- Journal Title
  
  Acta Neuropathologica Communications
  
  Volume: 11 Issue: 1 Pages: 33-33
- DOI
  10.1186/s40478-023-01532-x
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-20K08236
[Journal Article] Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A2023
- Author(s)
  Okubo Y, Shibuya M, Nakamura H, Kawashima A, Kodama K, Endo W, Inui T, Togashi N, Aihara Y, Shirota M, Funayama R, Niihori T, Fujita A, Nakayama K, Aoki Y, Matsumoto N, Kure S, Kikuchi A, Haginoya K
- Journal Title
  
  Brain Dev
  
  Volume: 45 Issue: 9 Pages: 505-511
- DOI
  10.1016/j.braindev.2023.06.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-22K12241
[Journal Article] Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling2023
- Author(s)
  Higashijima Takefumi、Shirozu Hiroshi、Saitsu Hirotomo、Sonoda Masaki、Fujita Atsushi、Masuda Hiroshi、Yamamoto Tetsuya、Matsumoto Naomichi、Kameyama Shigeki
- Journal Title
  
  Heliyon
  
  Volume: 9 Issue: 4 Pages: e14712-e14712
- DOI
  10.1016/j.heliyon.2023.e14712
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-22K16664
[Journal Article] Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation2023
- Author(s)
  Mizuguchi T., Toyota T., Koshimizu E., Kameyama S., Fukuda H., Tsuchida N., Uchiyama Y., Hamanaka K., Fujita A., Misawa K., Miyatake S., Adachi H. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 12 Pages: 875-878
- DOI
  10.1038/s10038-023-01187-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-21K07869, KAKENHI-PROJECT-23K06976, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism2023
- Author(s)
  R. Seyama, Y. Uchiyama, Y. Kaneshi, K. Hamanaka, A. Fujita, N. Tsuchida, E. Koshimizu, K. Misawa, S. Miyatake, T. Mizuguchi, S. Makino, A. Itakura, N. Okamoto and N. Matsumoto
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 5 Pages: 363-367
- DOI
  10.1038/s10038-022-01117-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy2023
- Author(s)
  Ohori S., Miyauchi A., Osaka H., Lourenco C. M., Arakaki N., Sengoku T., Ogata K., Honjo R. S., Kim C. A., Mitsuhashi S., Frith M. C., Seyama R., Tsuchida N., Uchiyama Y., Koshimizu E., Hamanaka K., Misawa K., Miyatake S., Mizuguchi T., Saito K., Fujita A. and Matsumoto N.
- Journal Title
  
  Life Sci Alliance
  
  Volume: 6 Issue: 8 Pages: e202302025-e202302025
- DOI
  10.26508/lsa.202302025
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-ORGANIZER-21H05158, KAKENHI-PLANNED-21H05161, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants2023
- Author(s)
  Inoue Yuta、Tsuchida Naomi、Okamoto Nobuhiko、Shuichi Shimakawa、Ohashi Kei、Saitoh Shinji、Ogawa Atsushi、Hamada Keisuke、Sakamoto Masamune、Miyake Noriko、Hamanaka Kohei、Fujita Atsushi、Koshimizu Eriko、Miyatake Satoko、Mizuguchi Takeshi、Ogata Kazuhiro、Uchiyama Yuri、Matsumoto Naomichi
- Journal Title
  
  Clinical Genetics
  
  Volume: 103 Issue: 5 Pages: 590-595
- DOI
  10.1111/cge.14292
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Heterozygous c.175C>T variant in PURA gene causes severe developmental delay2023
- Author(s)
  Noda Y, Kido J, Misumi Y, Sugawara K, Ohori S, Fujita A, Matsumoto N, Ueda M, Nakamura K
- Journal Title
  
  Clin Case Rep
  
  Volume: 11 Issue: 9
- DOI
  10.1002/ccr3.7779
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K15901
[Journal Article] A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation2023
- Author(s)
  Mori Tatsuo、Sakamoto Masamune、Tayama Takahiro、Goji Aya、Toda Yoshihiro、Fujita Atsushi、Mizuguchi Takeshi、Urushihara Maki、Matsumoto Naomichi
- Journal Title
  
  Brain and Development
  
  Volume: － Issue: 7 Pages: 395-400
- DOI
  10.1016/j.braindev.2023.03.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27568
[Journal Article] Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias2023
- Author(s)
  Fukuda H., Mizuguchi T., Doi H., Kameyama S., Kunii M., Joki H., Takahashi T., Komiya H., Sasaki M., Miyaji Y., Ohori S., Koshimizu E., Uchiyama Y., Tsuchida N., Fujita A., Hamanaka K., Misawa K., Miyatake S., Tanaka F. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 10 Pages: 689-697
- DOI
  10.1038/s10038-023-01170-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] A novel NONO variant that causes developmental delay and cardiac phenotypes2023
- Author(s)
  Itai T、Sugie A、Nitta Y、Maki R、Suzuki T、Shinkai Y、Watanabe Y、Nakano Y、Ichikawa K、Okamoto N、Utsuno Y、Koshimizu E、Fujita A、Hamanaka K、Uchiyama Y、Tsuchida N、Miyake N、Misawa K、Mizuguchi T、Miyatake S、Matsumoto N
- Journal Title
  
  Scientific Reports
  
  Volume: 13 Issue: 1 Pages: 975-975
- DOI
  10.1038/s41598-023-27770-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K06569, KAKENHI-PROJECT-21K15619, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-21H02837
[Journal Article] Synchronous heart rate reduction with suppression‐burst pattern in <i>KCNT1</i> ‐related developmental and epileptic encephalopathies2023
- Author(s)
  Yamamoto Kaoru、Baba Shimpei、Saito Takashi、Nakagawa Eiji、Sugai Kenji、Iwasaki Masaki、Fujita Atsushi、Fukuda Hiromi、Mizuguchi Takeshi、Kato Mitsuhiro、Matsumoto Naomichi、Sasaki Masayuki
- Journal Title
  
  Epilepsia Open
  
  Volume: － Issue: 2 Pages: 651-658
- DOI
  10.1002/epi4.12705
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27568
[Journal Article] De novo heterozygous variants in <i>KIF5B</i> cause kyphomelic dysplasia2022
- Author(s)
  Itai Toshiyuki、Wang Zheng、Nishimura Gen、Ohashi Hirofumi、Guo Long、Wakano Yasuhiro、Sugiura Takahiro、Hayakawa Hiromi、Okada Mayumi、Saisu Takashi、Kitta Ayana、Doi Hiroshi、Kurosawa Kenji、Hotta Yoshihiro、Hosono Katsuhiro、Sato Miho、他
- Journal Title
  
  Clinical Genetics
  
  Volume: 102 Issue: 1 Pages: 3-11
- DOI
  10.1111/cge.14133
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308
[Journal Article] Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome2022
- Author(s)
  Seyama R, Uchiyama Y, Ceroni JRM, Kim VEH, Furquim I, Honjo RS, Castro MAA, Pires LVL, Aoi H, Iwama K, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Bertola DR, Kim CA, Matsumoto N.
- Journal Title
  
  Genomics
  
  Volume: Sep;114(5) Issue: 5 Pages: 110468-110468
- DOI
  10.1016/j.ygeno.2022.110468
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907
[Journal Article] Detecting the NOTCH2NLC Repeat Expansion in Neuronal Intranuclear Inclusion Disease2022
- Author(s)
  S. Mitsuhashi, A. Fujita, N. Matsumoto
- Journal Title
  
  Genomic Structural Variants in Nervous System Disorders (Part of the Neuromethods book series)
  
  Volume: 182 Pages: 121-138
- DOI
  10.1007/978-1-0716-2357-2_7
- ISBN
  9781071623565, 9781071623572
- Data Source
  KAKENHI-PROJECT-20K17936
[Journal Article] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing2022
- Author(s)
  Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, et al.
- Journal Title
  
  npj Genomic Medicine
  
  Volume: 7 Issue: 1 Pages: 62-62
- DOI
  10.1038/s41525-022-00331-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-21K07869, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936
[Journal Article] Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype2022
- Author(s)
  Shinichi Kameyama, Takeshi Mizuguchi, Hiroshi Doi, et al.
- Journal Title
  
  Genomics
  
  Volume: 114 Issue: 5 Pages: 110469-110469
- DOI
  10.1016/j.ygeno.2022.110469
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936
[Journal Article] Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant2022
- Author(s)
  Hamanaka Kohei、Miyoshi Keita、Sun Jia-Hui、Hamada Keisuke、Komatsubara Takao、Saida Ken、Tsuchida Naomi、Uchiyama Yuri、Fujita Atsushi、Mizuguchi Takeshi、Gerard Benedicte、Bayat Allan、Rinaldi Berardo、Kato Mitsuhiro、Tohyama Jun、Ogata Kazuhiro、Shi Yun Stone、Saito Kuniaki、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Human Genetics
  
  Volume: 141 Issue: 2 Pages: 283-293
- DOI
  10.1007/s00439-021-02416-7
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K17936
[Journal Article] Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy2022
- Author(s)
  Sakamoto M et al, Saitoh Sは30番目
- Journal Title
  
  Genetics in Medicine
  
  Volume: 24 Issue: 12 Pages: 2453-2463
- DOI
  10.1016/j.gim.2022.08.007
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K21501, KAKENHI-PROJECT-23K24308
[Journal Article] Distal 2q duplication in a patient with intellectual disability2022
- Author(s)
  Suzuki T, Osaka H, Miyake N, Fujita A, Uchiyama Y, Seyama R, Koshimizu E, Miyatake S, Mizuguchi T, Takeda S, Matsumoto N.
- Journal Title
  
  Hum Genome Var
  
  Volume: Nov 10;9(1) Issue: 1 Pages: 39-39
- DOI
  10.1038/s41439-022-00215-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308
[Journal Article] Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.2022
- Author(s)
  Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N.
- Journal Title
  
  Genome Med
  
  Volume: 14 Issue: 1 Pages: 40-40
- DOI
  10.1186/s13073-022-01042-w
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PLANNED-20H05777
[Journal Article] Monogenic causes of pigmentary mosaicism2022
- Author(s)
  Saida Ken、Chong Pin Fee、Yamaguchi Asuka、...Mitsuhiro Kato, et al.
- Journal Title
  
  Human Genetics
  
  Volume: 141 Issue: 11 Pages: 1771-1784
- DOI
  10.1007/s00439-022-02437-w
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308
[Journal Article] Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes2022
- Author(s)
  Kimura H, Okada T, Sebat J, et al.
- Journal Title
  
  Translational Psychiatry
  
  Volume: 12 Issue: 1 Pages: 265-265
- DOI
  10.1038/s41398-022-02033-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08044, KAKENHI-PROJECT-20K20602, KAKENHI-PROJECT-21H04815, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21H02848, KAKENHI-PROJECT-23K24308, KAKENHI-PLANNED-20H05777
[Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma2019
- Author(s)
  A. Fujita, T. Higashijima, H. Shirozu, H. Masuda, M. Sonoda, J. Tohyama, M. Kato, M. Nakashima, Y. Tsurusaki, S. Mitsuhashi, T. Mizuguchi, A. Takata, S. Miyatake, N. Miyake, M. Fukuda, S. Kameyama, H. Saitsu, and N. Matsumoto.
- Journal Title
  
  Neurology
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H06994
[Journal Article] Biallelic COLGALT1 variants are associated with cerebral small vessel disease2018
- Author(s)
  Miyatake Satoko、Schneeberger Sacha、Koyama Norihisa、Yokochi Kenji、Ohmura Kayo、、Hennet Thierry、Matsumoto Naomichi、et al
- Journal Title
  
  Annals of Neurology
  
  Volume: 84 Issue: 6 Pages: 843-853
- DOI
  10.1002/ana.25367
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] SOFT syndrome in a patient from Chile2018
- Author(s)
  Saida Ken、Silva Sebastian、Solar Benjamin、Fujita Atsushi、Hamanaka Kohei、Mitsuhashi Satomi、Koshimizu Eriko、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 179 Issue: 3 Pages: 338-340
- DOI
  10.1002/ajmg.a.61015
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy2018
- Author(s)
  Hamanaka Kohei、Miyatake Satoko、Koshimizu Eriko、Matsumoto Naomichi、et al.
- Journal Title
  
  Genetics in Medicine
  
  Volume: - Issue: 7 Pages: 1629-1638
- DOI
  10.1038/s41436-018-0360-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-18K15370
[Journal Article] wo Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.2018
- Author(s)
  Takeguchi R#, Haginoya K# (# denotes equal contribution), Uchiyama Y, Fujita A, Nagura M, Takeshita E*, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M.
- Journal Title
  
  Brain Dev.
  
  Volume: 40(8) Issue: 8 Pages: 728-732
- DOI
  10.1016/j.braindev.2018.04.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-17H06994
[Journal Article] A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia2018
- Author(s)
  Uchiyama Yuri、Yanagisawa Kunio、Kunishima Shinji、Shiina Masaaki、Ogawa Yoshiyuki、Nakashima Mitsuko、Hirato Junko、Imagawa Eri、Fujita Atsushi、Hamanaka Kohei、Miyatake Satoko、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Ogata Kazuhiro、Handa Hiroshi、Matsumoto Naomichi、Mizuguchi Takeshi
- Journal Title
  
  Clinical Genetics
  
  Volume: 94 Issue: 6 Pages: 548-553
- DOI
  10.1111/cge.13423
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07809, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome2018
- Author(s)
  Fujita Atsushi、Tsukaguchi Hiroyasu、Koshimizu Eriko、Nakazato Hitoshi、Itoh Kyoko、Kuraoka Shohei、Komohara Yoshihiro、Shiina Masaaki、Nakamura Shohei、Kitajima Mika、Tsurusaki Yoshinori、Miyatake Satoko、Ogata Kazuhiro、Iijima Kazumoto、Matsumoto Naomichi、Miyake Noriko
- Journal Title
  
  Annals of Neurology
  
  Volume: 84 Issue: 6 Pages: 814-828
- DOI
  10.1002/ana.25370
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K09719, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-18KK0244, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H06994
[Journal Article] Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic2018
- Author(s)
  Hamanaka Kohei、Miyatake Satoko、Zerem Ayelet、Lev Dorit、Blumkin Luba、Yokochi Kenji、Fujita Atsushi、Imagawa Eri、Iwama Kazuhiro、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、van der Knaap Marjo S.、Lerman-Sagie Tally、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 12 Pages: 1223-1229
- DOI
  10.1038/s10038-018-0516-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies2018
- Author(s)
  Hamanaka Kohei、Sugawara Yuji、Shimoji Takeyoshi、Nordtveit Tone Irene、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo、Suzuki Toshimitsu、Yamakawa Kazuhiro、Aukrust Ingvild、Houge Gunnar、Miyatake Satoko、Matsumoto Naomichi、et al.
- Journal Title
  
  European Journal of Human Genetics
  
  Volume: 27 Issue: 3 Pages: 378-383
- DOI
  10.1038/s41431-018-0289-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Presentation] Detection of somatic variants in epileptogenic brain lesions2023
- Author(s)
  Fujita A, Kato M, Sugano H, Iimura Y, Suzuki H, Tohyama J, et al.
- Organizer
  The 68th Annual Meeting of the Japan Society of Human Genetics
- Data Source
  KAKENHI-PROJECT-22K15901
[Presentation] Genetic analysis of epileptogenic brain lesions2023
- Author(s)
  Fujita A, Kato M, Sugano H, Iimura Y, Suzuki H, Tohyama J, et al.
- Organizer
  The European Human Genetics Conference 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K15901
[Presentation] Comprehensive genetic analysis of somatic and germline mutations in individuals with hypothalamic hamartoma.2018
- Author(s)
  Atsushi Fujita, Takefumi Higashijima, Hiroshi Shirozu, Hiroshi Masuda, Masaki Sonoda, Jun Tohyama, Mitsuhiro Kato, Mitsuko Nakashima, Yoshinori Tsurusaki, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Satoko Miyatake, Noriko Miyake, Masafumi Fukuda, Shigeki Kameyama, Hirotomo Saitsu, and Naomichi Matsumoto.
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-17H06994

1. HOTTA Yoshihiro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. 宮武聡子

# of Collaborated Projects: 0 results

# of Collaborated Products: 10 results
3. 稲次基希

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
4. 才津浩智

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. 水口剛

# of Collaborated Projects: 0 results

# of Collaborated Products: 7 results
6. 土井宏

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
7. 緒方一博

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
8. 浜田恵輔

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
9. 松本直通

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
10. 斉藤伸治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
11. 三宅紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
12. 新海陽一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. 加藤光広

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
14. 塚口裕康

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
15. 岡田俊

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Fujita Atsushi 藤田 京志

Research Projects

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大頭症を伴う多発奇形症候群の遺伝学的原因の探索Principal Investigator

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Elucidation of the genetic causes of focal cortical dysplasia by detection of somatic variants and copy number variantsPrincipal Investigator

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高感度な検出系を用いた限局性皮質異形成の責任遺伝子の同定Principal Investigator

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Elucidation of genetic basis for the brain malformations caused by somatic mosaic mutations.Principal Investigator

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[Journal Article] Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature2024

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[Journal Article] Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders2024

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[Journal Article] A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities2024

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[Journal Article] Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan2023

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[Journal Article] Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals2023

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[Journal Article] A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 82023

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[Journal Article] ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report2023

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[Journal Article] Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma2023

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[Journal Article] An integrated genetic analysis of epileptogenic brain malformed lesions2023

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[Journal Article] Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A2023

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[Journal Article] Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling2023

Author(s)

Fujita Atsushi 藤田京志