ゲノム医療部門
研究業績
  1. Tsuji A, Miyata T, Sekine A, Neki R, Kokame K, Tomita T, Kashima Y, Asano R, Ueda J, Aoki T, Ogo T. Three Cases of Unprovoked Venous Thromboembolism with Prothrombin p.Arg596Gln Variant and a Literature Review of Antithrombin Resistance. Internal Medicine. 62, 885-888, 2023.
  2. Hitsumoto T, Tsukamoto O, Matsuoka K, Li J, Liu L, Kuramoto Y, Higo S, Ogawa S, Fujino N, Yoshida S, Kioka H, Kato H, Hakui H, Saito Y, Okamoto C, Inoue H, Hyejin J, Ueda K, Segawa T, Nishimura S, Asano Y, Asanuma H, Tani A, Imamura R, Komagawa S, Kanai T, Takamura M, Sakata Y, Kitakaze M, Haruta JI, Takashima S. Restoration of Cardiac Myosin Light Chain Kinase Ameliorates Systolic Dysfunction by Reducing Superrelaxed Myosin. Circulation. 147, 1902-1918, 2023.
  3. Ishida H, Narita J, Ishii R, Suginobe H, Tsuru H, Wang R, Yoshihara C, Ueyama A, Ueda K, Hirose M, Hashimoto K, Nagano H, Kogaki S, Kuramoto Y, Miyashita Y, Asano Y, Ozono K. Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children. Circulation: Genomic and Precision Medicine. 16, 382-389, 2023.
  4. Yagasaki H, Narusawa H, Watanabe D, Kobayashi K, Mitsui H, Asano Y, Nagata M, Yonei A, Inukai T. Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency. European Journal of Medical Genetics. 66, 104870, 2023.
  5. Takeyari S, Yamamoto K, Fujiwara M, Ohata Y, Kitaoka T, Kubota T, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Ozono K. A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4. Clinical Pediatric Endocrinology. 32, 105-109, 2023.
  6. Kurosaka H, Yamamoto S, Hirasawa K, Yanagishita T, Fujioka K, Yagasaki H, Nagata M, Ishihara Y, Yonei A, Asano Y, Nagata N, Tsujimoto T, Inubushi T, Yamamoto T, Sakai N, Yamashiro T. Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome. American Journal of Medical Genetics Part A. 191, 1984-1989, 2023.
  7. Naito S, Higo S, Kameda S, Ogawa S, Tabata T, Akazawa Y, Nakamura D, Nakamoto K, Sera F, Kuramoto Y, Asano Y, Hikoso S, Miyagawa S, Sakata Y. End-stage Hypertrophic Cardiomyopathy with Advanced Heart Failure in Patients Carrying MYH7 R453 Variants: A Case Series. Internal Medicine. 62, 3167-3173, 2023.
  8. Yamamoto H, Miyashita Y, Minamiguchi H, Hosomichi K, Yoshida S, Kioka H, Shinomiya H, Nagata H, Onoue K, Kawasaki M, Kuramoto Y, Nomura A, Toma Y, Watanabe T, Yamada T, Ishihara Y, Nagata M, Kato H, Hakui H, Saito Y, Asano Y, Sakata Y. Human leukocyte antigen-DQ risk heterodimeric haplotypes of left ventricular dysfunction in cardiac sarcoidosis: an autoimmune view of its role. Scientific Reports. 13, 19767, 2023.
  9. Moriwaki T, Masuno M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Takao K, Tawa K, Yamanouchi Y, Miki A, Otomo T. A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay. Human Genome Variation. 10, 27, 2023.
  10. Yoshimura F, Oda S, Kidoh M, Hayashi H, Yonemura M, Miyazaki S, Takashio S, Kuramoto Y, Asano Y, Tsujita K, Hirai T. Cardiac Magnetic Resonance Imaging Findings in Filamin C Variant-Associated Arrhythmogenic Left Ventricular Cardiomyopathy. Circulation Journal. 87, 1403, 2023.
  11. 根木 玲子, 宮田 敏行. 先天性(遺伝性)アンチトロンビン・プロテインC・プロテインS欠乏症. Medical Practice. 40, 916-920, 2023.
  12. 根木 玲子, 池添 隆之, 向井 幹夫. 凝固(血栓)分野. 日本血栓止血学会誌. 34, 72-74, 2023.
  13. 根木 玲子, 宮田 敏行. 特発性血栓症. 遺伝子医学. 13, 110-119, 2023.
  14. 根木 玲子,宮田 敏行. 診断・治療　遺伝性・後天性血栓性素因と産科診療. 産科と婦人科. 90, 1091-1097, 2023.
  15. 伊田 和史. Marfan症候群. 遺伝カウンセリング標準テキスト. 120-123, 2023.