Yuri Uchiyama
(内山 由理)
Modified on: 02/01
Profile Information
- Affiliation
- 助教, 難病ゲノム診断科, 横浜市立大学附属病院
- Degree
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医学博士(Mar, 2018, 群馬大学)
- Researcher number
- 50829794
- J-GLOBAL ID
- 201801007707849153
- researchmap Member ID
- B000332739
- External link
血液専門医、総合内科専門医、臨床遺伝専門医、血栓止血認定医
Awards
1-
May, 2021
Major Papers
97-
International journal of hematology, Apr 17, 2023 Peer-reviewed
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American journal of human genetics, 110(4) 663-680, Apr 6, 2023 Peer-reviewed
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Scientific Reports, 13(1) 975-975, Jan 18, 2023 Peer-reviewed
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Clinical genetics, 103(4) 383-391, Jan 16, 2023 Peer-reviewed
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Journal of human genetics, 68(5) 363-367, Jan 12, 2023 Peer-reviewed
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Clinical Genetics, Jan 7, 2023 Peer-reviewed
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Nature communications, 13(1) 6664-6664, Nov 4, 2022 Peer-reviewed
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Genetics in medicine : official journal of the American College of Medical Genetics, 25(1) 90-102, Oct 31, 2022 Peer-reviewed
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Genetics in medicine : official journal of the American College of Medical Genetics, 24(12) 2453-2463, Oct 28, 2022 Peer-reviewed
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NPJ genomic medicine, 7(1) 62-62, Oct 26, 2022 Peer-reviewed
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Modern rheumatology case reports, 7(1) 327-333, Oct 20, 2022 Peer-reviewed
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International journal of hematology, 116(4) 463-464, Sep 3, 2022 Peer-reviewed
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Genomics, 114(5) 110469-110469, Aug 27, 2022 Peer-reviewed
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Genomics, 114(5) 110468-110468, Aug 27, 2022 Peer-reviewed
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Clinical genetics, 102(1) 3-11, Jul, 2022 Peer-reviewed
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Arthritis & rheumatology (Hoboken, N.J.), 74(11) 1863-1864, Jun 13, 2022
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Human genetics, 141(11) 1771-1784, May 3, 2022 Peer-reviewed
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Brain : a journal of neurology, 145(3) 1139-1150, Apr 29, 2022 Peer-reviewed
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Genome medicine, 14(1) 40-40, Apr 26, 2022 Peer-reviewed
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Clinical immunology (Orlando, Fla.), 238 108996-108996, Apr 7, 2022 Peer-reviewed
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Journal of human genetics, 67(3) 157-164, Mar, 2022 Peer-reviewed
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The Journal of dermatology, 49(5) e177-e178, Feb 15, 2022 Peer-reviewed
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Human genetics, 141(2) 283-293, Feb, 2022 Peer-reviewed
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Frontiers in immunology, 13 897722-897722, 2022 Peer-reviewed
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Clinical genetics, 101(3) 359-363, Dec 5, 2021 Peer-reviewed
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A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.Human molecular genetics, 30(21) 1919-1931, Oct 13, 2021 Peer-reviewed
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Human molecular genetics, 31(1) 69-81, Aug 4, 2021
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Annals of the rheumatic diseases, 80(8) 1057-1061, Aug, 2021
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British journal of haematology, 194(2) 414-422, Jul, 2021
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Genetics in medicine : official journal of the American College of Medical Genetics, 23(10) 1912-1921, Jun 10, 2021
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Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.Brain : a journal of neurology, 144(4) 1103-1117, May 7, 2021
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Human mutation, 42(1) 50-65, Jan, 2021
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Genomics, 113(1 Pt 2) 1044-1053, Jan, 2021
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Human Mutation, 42(1) 66-76, Nov, 2020 Peer-reviewed
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Human Mutation, 42(1) 50-65, Nov, 2020 Peer-reviewedLead author
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Journal of medical genetics, 58(8) 505-513, Jul 30, 2020 Peer-reviewed
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Journal of human genetics, 64(10) 1005-1014, Oct, 2019 Peer-reviewed
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Journal of human genetics, 64(10) 967-978, Oct, 2019 Peer-reviewed
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Journal of human genetics, 64(9) 955-960, Sep, 2019 Peer-reviewed
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Human molecular genetics, 28(14) 2319-2329, Jul 15, 2019 Peer-reviewed
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Genetics in medicine : official journal of the American College of Medical Genetics, 21(7) 1629-1638, Jul, 2019 Peer-reviewed
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Nature communications, 10(1) 2506-2506, Jun 7, 2019 Peer-reviewed
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Annals of neurology, 84(6) 843-853, Dec, 2018 Peer-reviewed
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Clinical genetics, 94(6) 548-553, Dec, 2018 Peer-reviewed
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British journal of haematology, 181(6) 843-847, Jun, 2018 Peer-reviewed
Misc.
15-
ARTHRITIS & RHEUMATOLOGY, 73 2292-2293, Sep, 2021
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日本人類遺伝学会大会プログラム・抄録集, 66th (CD-ROM), 2021
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臨床血液, 59(9) 1506-1506, Sep, 2018
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脳と発達, 50(3) 216-216, May, 2018
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日本血栓止血学会誌, 29(2) 217, May 1, 2018
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日本血栓止血学会誌, 29(2) 177, May 1, 2018
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日本血栓止血学会誌, 29(2) 192, May 1, 2018
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日本人類遺伝学会大会プログラム・抄録集, 63rd, 2018
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PEDIATRIC BLOOD & CANCER, 64 S29-S29, Nov, 2017
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脳と発達, 49(Suppl.) S424-S424, May, 2017
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INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 39 64-64, May, 2017
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小児科診療, 79(6) 733-738, Jun, 2016
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臨床血液, 54(2) 214-218, 2013
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Journal of Hematopoietic Cell Transplantation, 1巻(3) 93-97, 2012
Research Projects
2-
科学研究費助成事業 若手研究, 若手研究, 日本学術振興会, Apr, 2021 - Mar, 2023
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Grant-in-Aid for Young Scientists, Grant-in-Aid for Early-Career Scientists, Japan Society for the Promotion of Science, Apr, 2019 - Mar, 2021