Uchiyama Yuri 内山由理

… Alternative Names

UCHIYAMA Yuri 内山由理

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Researcher Number	50829794
Other IDs
Affiliation (Current)	2025: 横浜市立大学, 附属病院, 講師
Affiliation (based on the past Project Information) *help	2020 – 2023: 横浜市立大学, 附属病院, 助教 2019: 横浜市立大学, 医学研究科, 特任助教
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 54010:Hematology and medical oncology-related
Keywords	Principal Investigator 全エクソーム解析 / ATMパスウェイ / 汎血球減少症 / DNA損傷 / 細胞周期 / TP53活性化調節 / 小脳失調症 / 小脳失調 / 成長発達障害 / ゲノム不安定性 … More / NGS解析 / 造血障害 / 発達障害 / 成長障害 / ATM signaling pathway / 造血機能不全 / 先天性造血障害 / 血小板減少症 / 先天性造血器障害 Less

Elucidate the pathophysiology of a novel syndrome caused by genes that regulate the TP53 activation pathwayPrincipal Investigator
- Principal Investigator
  
  内山由理
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Yokohama City University
Elucidate the pathophysiology of a novel syndrome caused by genes involving ATM signal pathwayPrincipal Investigator
- Principal Investigator
  
  UCHIYAMA Yuri
- Project Period (FY)
  2021 – 2022
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Yokohama City University
Molecular genetic analysis of congenital thrombocytopenia, hemostatic and coagulation disorderPrincipal Investigator
- Principal Investigator
  
  UCHIYAMA Yuri
- Project Period (FY)
  2019 – 2020
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 54010:Hematology and medical oncology-related
- Research Institution
  Yokohama City University

All 2024 2023 2022 2021 2020 2019 Other

All Journal Article Presentation Other

[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] Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability2024
- Author(s)
  Inoue Y., Tsuchida N., Kim C. A., de Oliveira Stephan B., Castro M. A. A., Honjo R. S., Bertola D. R., Uchiyama Y., Hamanaka K., Fujita A., Koshimizu E., Misawa K., Miyatake S., Mizuguchi T. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 3-4 Pages: 163-167
- DOI
  10.1038/s10038-024-01219-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024
- Author(s)
  Li Dong、Wang Qin、Bayat Allan et al.、Seyama Rie、Uchiyama Yuri、Matsumoto Naomichi、Taira Ryoji、Tashiro Katsuya、Sakai Yasunari et al.、Zackai Elaine H.、Akizu Naiara、Song Yuanquan、Hakonarson Hakon
- Journal Title
  
  Journal of Clinical Investigation
  
  Volume: 134 Issue: 1
- DOI
  10.1172/jci171235
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K07334
[Journal Article] Teriparatide-Associated Hypercalcemia Concomitant With Acute Kidney Injury: A Case-Report2024
- Author(s)
  Goto Yuya、Uchiyama Yuri、Fujikura Tomoyuki、Tashiro Takeshi、Yasuda Hideo
- Journal Title
  
  Cureus
  
  Volume: －
- DOI
  10.7759/cureus.54263
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K07229
[Journal Article] Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling2024
- Author(s)
  Koshimizu E., Kato M., Misawa K., Uchiyama Y., Tsuchida N., Hamanaka K., Fujita A., Mizuguchi T., Miyatake S. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 69 Issue: 3-4 Pages: 153-157
- DOI
  10.1038/s10038-023-01217-2
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-20K08236, 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] Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome2023
- Author(s)
  Kunimoto Hiroyoshi、Miura Ayaka、Maeda Ayaka、Tsuchida Naomi、Uchiyama Yuri、Kunishita Yosuke、Nakajima Yuki、Takase-Minegishi Kaoru、Yoshimi Ryusuke、Miyazaki Takuya、Hagihara Maki、Yamazaki Etsuko、Kirino Yohei、Matsumoto Naomichi、Nakajima Hideaki
- Journal Title
  
  International Journal of Hematology
  
  Volume: - Issue: 4 Pages: 494-502
- DOI
  10.1007/s12185-023-03598-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K17428, KAKENHI-PROJECT-23K15353, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-21K08400
[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] Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing2023
- Author(s)
  Hijikata A、Suyama M、Kikugawa S、Matoba R、Naruto T、Enomoto Y、Kurosawa K、Harada N、Yanagi K、Kaname T、Miyako K、Takazawa M、Sasai H、Hosokawa J、Itoga S、Yamaguchi T、Kosho T、Matsubara K、Kuroki Y、Fukami M、Adachi K、Nanba E、Tsuchida N、Uchiyama Y、Matsumoto N、Nishimura K、Ohara O
- Journal Title
  
  Nucleic Acids Research
  
  Volume: 52 Issue: 1 Pages: 114-124
- DOI
  10.1093/nar/gkad1140
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07889, KAKENHI-PROJECT-23K07229
[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] Comment on: Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome: reply2023
- Author(s)
  Tsuchida Naomi、Uchiyama Yuri、Maeda Ayaka、Horita Nobuyuki、Kirino Yohei、Matsumoto Naomichi
- Journal Title
  
  Rheumatology
  
  Volume: - Issue: 8 Pages: e229-e230
- DOI
  10.1093/rheumatology/kead626
- Data Source
  KAKENHI-PROJECT-23K15353, KAKENHI-PROJECT-23K07229
[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] Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome2023
- Author(s)
  Shigeyasu Chika、Yamada Masakazu、Miyata Yohane、Uchiyama Yuri、Matsumoto Naomichi、Kusumi Yumi、Shiraishi Atsushi
- Journal Title
  
  Cornea
  
  Volume: 42 Issue: 7 Pages: 908-911
- DOI
  10.1097/ico.0000000000003281
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K07229
[Journal Article] A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association2023
- Author(s)
  Seyama Rie、Nishikawa Masashi、Ogata Kazuhiro、Nagata Koh-ichi、Matsumoto Naomichi
- Journal Title
  
  Scientific Reports
  
  Volume: 13 Issue: 1 Pages: 9789-9789
- DOI
  10.1038/s41598-023-36381-0
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K19498, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K14946, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] Long-term remission of VEXAS syndrome achieved by a single course of CHOP therapy: A case report2023
- Author(s)
  Miyoshi Yuji、Kise Takayasu、Morita Kaoru、Okada Haruka、Imadome Ken-Ichi、Tsuchida Naomi、Maeda Ayaka、Uchiyama Yuri、Kirino Yohei、Matsumoto Naomichi、Yokogawa Naoto
- Journal Title
  
  Modern Rheumatology Case Reports
  
  Volume: 8 Issue: 1 Pages: 199-204
- DOI
  10.1093/mrcr/rxad041
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K15353, KAKENHI-PROJECT-23K07229
[Journal Article] Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis2023
- Author(s)
  Frost F. Graeme、Morimoto Marie、Sharma Prashant、Ruaud Lyse、Belnap Newell、Calame Daniel G.、Uchiyama Yuri、Matsumoto Naomichi、Oud Machteld M.、Macnamara Ellen F.、Adams David R.、Acosta Maria T.、Tifft Cynthia J.、Gahl William A.、Malicdan May Christine V.
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 110 Issue: 4 Pages: 663-680
- DOI
  10.1016/j.ajhg.2023.03.001
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K07229
[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] Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.2023
- Author(s)
  Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N.
- Journal Title
  
  Clinical Genetics
  
  Volume: 103 Issue: 4 Pages: 383-391
- DOI
  10.1111/cge.14296
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K15907, KAKENHI-PROJECT-23K07229
[Journal Article] VEXAS syndrome2022
- Author(s)
  Uchino Kaori、Kanasugi Jo、Enomoto Megumi、Kitamura Fumiya、Tsuchida Naomi、Uchiyama Yuri、Maeda Ayaka、Kirino Yohei、Matsumoto Naomichi、Takami Akiyoshi
- Journal Title
  
  International Journal of Hematology
  
  Volume: 116 Issue: 4 Pages: 463-464
- DOI
  10.1007/s12185-022-03448-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K08427, KAKENHI-PROJECT-20K17428, KAKENHI-PROJECT-21K15907
[Journal Article] Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy2022
- Author(s)
  Grange Laura J.、... Natsume Toyoaki、... Stewart Grant S.
- Journal Title
  
  Nature Communications
  
  Volume: 13 Issue: 1 Pages: 6664-6664
- DOI
  10.1038/s41467-022-34349-8
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K06495, KAKENHI-PROJECT-21K15907
[Journal Article] A case of VEXAS syndrome with Sweet's disease and pulmonary involvement2022
- Author(s)
  Matsubara Akihiro、Tsuchida Naomi、Sakurai Mai、Maeda Ayaka、Uchiyama Yuri、Sasaki Kaneshige、Haji Yoichiro、Kirino Yohei、Matsumoto Naomichi、Morita Akimichi
- Journal Title
  
  The Journal of Dermatology
  
  Volume: 49 Issue: 5
- DOI
  10.1111/1346-8138.16311
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K17428, KAKENHI-PROJECT-21K15907
[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] Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome2022
- Author(s)
  Yamaguchi Hiroki、Kobayashi Daisuke、Nakamura Gen、Aida Ryo、Horii Yosuke、Okamoto Takeshi、Murakami Shuichi、Kondo Daisuke、Tsuchida Naomi、Uchiyama Yuri、Maeda Ayaka、Kirino Yohei、Matsumoto Naomichi、Kurosawa Yoichi、Hasegawa Eriko、Wakamatsu Ayako、Narita Ichiei
- Journal Title
  
  Modern Rheumatology Case Reports
  
  Volume: 7 Issue: 1 Pages: 327-333
- DOI
  10.1093/mrcr/rxac082
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K17428, KAKENHI-PROJECT-21K15907
[Journal Article] Behcet's disease with a somatic UBA1 variant: Expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome2022
- Author(s)
  Matsumoto H、Asano T、Tsuchida N、Maeda A、Yoshida S、Yokose K、Fujita Y、Temmoku J、Matsuoka N、Yashiro-Furuya M、Sato S、Irie K、Norikawa N、Yamamoto T、Endo M、Fukuchi K、Ohkawara H、Ikezoe T、Uchiyama Y、Kirino Y、Matsumoto N、Watanabe H、Migita K
- Journal Title
  
  Clinical Immunology
  
  Volume: 238 Pages: 108996-108996
- DOI
  10.1016/j.clim.2022.108996
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K17428, KAKENHI-PROJECT-19H03700, KAKENHI-PROJECT-21K15907
[Journal Article] Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome2022
- Author(s)
  Matsumoto Haruki、Fujita Yuya、Fukatsu Masahiko、Ikezoe Takayuki、Yokose Kohei、Asano Tomoyuki、Kawashima Kazumasa、Shakespear Norshalena、Uchiyama Yuri、Watanabe Hiroshi、Kirino Yohei、Matsumoto Naomichi、Migita Kiyoshi
- Journal Title
  
  Frontiers in Immunology
  
  Volume: 13 Pages: 1-6
- DOI
  10.3389/fimmu.2022.897722
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07986, KAKENHI-PROJECT-20K17385, KAKENHI-PROJECT-20K17428, KAKENHI-PROJECT-21K15907
[Journal Article] Clinical images: VEXAS syndrome presenting as treatment‐refractory polyarteritis nodosa2022
- Author(s)
  Itagane Masaki、Teruya Hiroyuki、Kato Tomohiro、Tsuchida Naomi、Maeda Ayaka、Kirino Yohei、Uchiyama Yuri、Matsumoto Naomichi、Kinjo Mitsuyo
- Journal Title
  
  Arthritis & Rheumatology
  
  Volume: 74 Issue: 11 Pages: 1863-1864
- DOI
  10.1002/art.42257
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K17428, KAKENHI-PROJECT-21K15907
[Journal Article] De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy2021
- Author(s)
  Itai T, Hamanaka K, Sasaki K, Saitsu H, Miyatake S, Matsumoto N et al.
- Journal Title
  
  Hum Mutat
  
  Volume: 42 Issue: 1 Pages: 66-76
- DOI
  10.1002/humu.24130
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865
[Journal Article] Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing2021
- Author(s)
  Mizuguchi T, Okamoto N, Yanagihara K, Miyatake S, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Miyake N, Matsumoto N.
- Journal Title
  
  Genomics
  
  Volume: 113 Issue: 1 Pages: 1044-1053
- DOI
  10.1016/j.ygeno.2020.10.038
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K17865
[Journal Article] Whole exome sequencing of fetal structural anomalies detected by ultrasonography2020
- Author(s)
  Aoi Hiromi、Mizuguchi Takeshi、Suzuki Toshifumi、Makino Shintaro、Yamamoto Yuka...Takata Atsushi、Miyake Noriko、Takeda Satoru、Itakura Atsuo、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 5 Pages: 499-507
- DOI
  10.1038/s10038-020-00869-8
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-20K08164
[Journal Article] Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses2020
- Author(s)
  Uchiyama Yuri、Yamaguchi Daisuke、Iwama Kazuhiro, et al.
- Journal Title
  
  Human Mutation
  
  Volume: 42 Issue: 1 Pages: 50-65
- DOI
  10.1002/humu.24129
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-18K07865
[Journal Article] Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia2020
- Author(s)
  Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N.
- Journal Title
  
  Hum Genome Var
  
  Volume: 7 Issue: 1 Pages: 43-43
- DOI
  10.1038/s41439-020-00131-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19K17307, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K17865
[Journal Article] Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes2020
- Author(s)
  Aoi Hiromi、Lei Ming、Mizuguchi Takeshi、Nishioka Nobuko、Goto Tomohide、Miyama Sahoko、Suzuki Toshifumi、Iwama Kazuhiro、Uchiyama Yuri、Mitsuhashi Satomi、Itakura Atsuo、Takeda Satoru、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Issue: 9 Pages: 811-811
- DOI
  10.1038/s10038-020-0782-2
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17865
[Journal Article] Prenatal clinical manifestations in individuals with COL4A1/2 variants2020
- Author(s)
  Itai T, Miyatake S, Taguri M, Nakashima M, Saitsu H, Matsumoto N et al.
- Journal Title
  
  J Med Genet
  
  Volume: 0 Issue: 8 Pages: 106896-106896
- DOI
  10.1136/jmedgenet-2020-106896
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-20K16577
[Presentation] VEXAS症候群にみられる造血異常の特徴2022
- Author(s)
  内山　由理，土田　奈緒美，前田　彩花，松本聖生，浅野　智之，松原　章宏，伊藤　裕司，赤尾　敏之,萩山　裕之,林邉　廉, 國下　洋輔, 山崎　悦子, 國本　博義, 桐野　洋平, 松本　直通, 中島　秀明
- Organizer
  第84回日本血液学会学術集会
- Data Source
  KAKENHI-PROJECT-21K15907
[Presentation] 先天性第V因子欠乏症の遺伝学的診断とコピー数解析2020
- Author(s)
  内山由理
- Organizer
  第42回日本血栓止血学会学術集会
- Data Source
  KAKENHI-PROJECT-19K17865
[Presentation] Efficient detection of copy-number variations using whole-exome data: batch- and sex-based analyses2020
- Author(s)
  Yuri Uchiyama, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Sachiko Ohori, Ming Lei, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-19K17865
[Presentation] von Willebrand 病の臨床診断における遺伝子解析の有用性2019
- Author(s)
  内山由理
- Organizer
  第41回日本血栓止血学会学術集会
- Data Source
  KAKENHI-PROJECT-19K17865
[Presentation] Molecular genetic analysis of 10 families with chronic thrombocytopenia2019
- Author(s)
  内山由理
- Organizer
  International Society on Thrombosis and Haemostasis
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17865
[]

1. 高見昭良

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. 夏目豊彰

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
3. 土田奈緒美

# of Collaborated Projects: 0 results

# of Collaborated Products: 7 results
4. 宮武聡子

# of Collaborated Projects: 0 results

# of Collaborated Products: 5 results
5. 水口剛

# of Collaborated Projects: 0 results

# of Collaborated Products: 7 results
6. 高田篤

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
7. 藤田京志

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
8. 笹井英雄

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
9. 緒方一博

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
11. 川島一公

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
12. 永田浩一

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Uchiyama Yuri 内山 由理

UCHIYAMA Yuri 内山 由理

Research Projects

Research Products

Co-Researchers

Elucidate the pathophysiology of a novel syndrome caused by genes that regulate the TP53 activation pathwayPrincipal Investigator

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Elucidate the pathophysiology of a novel syndrome caused by genes involving ATM signal pathwayPrincipal Investigator

Principal Investigator

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Molecular genetic analysis of congenital thrombocytopenia, hemostatic and coagulation disorderPrincipal Investigator

Principal Investigator

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Research Institution

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

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[Journal Article] Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability2024

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[Journal Article] Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024

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[Journal Article] Teriparatide-Associated Hypercalcemia Concomitant With Acute Kidney Injury: A Case-Report2024

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[Journal Article] Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling2024

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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] Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome2023

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[Journal Article] Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation2023

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[Journal Article] Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism2023

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[Journal Article] Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing2023

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[Journal Article] Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy2023

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[Journal Article] Comment on: Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome: reply2023

Author(s)

Uchiyama Yuri 内山由理

UCHIYAMA Yuri 内山由理