ゲノム医療支援部
研究業績
  1. Eto K, Machida O, Yanagishita T, Shimojima Yamamoto K, Chiba K, Aihara Y, Hasegawa Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Nagata S, Yamamoto T. Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis. Human Genome Variation. 9, 43, 2022.
  2. Hakui H, Kioka H, Sera F, Nakamoto K, Ozu K, Kuramoto Y, Miyashita Y, Ohtani T, Hikoso S, Asano Y, Sakata Y. Refractory Ventricular Arrhythmias in a Patient With Dilated Cardiomyopathy Caused by a Nonsense Mutation in BAG5. Circulation Journal. 86, 2043, 2022.
  3. Kagawa Y, Okamoto R, Asano Y, Sakata Y, Dohi K. Arrhythmogenic right ventricular cardiomyopathy complicating hypertrophic cardiomyopathy. European Heart Journal - Cardiovascular Imaging. 23, e326, 2022.
  4. Yagasaki H, Sano F, Narusawa H, Watanabe D, Kaga Y, Kobayashi K, Asano Y, Nagata M, Yonei A, Inukai T. Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome. American Journal of Medical Genetics Part A. 188, 2466-2471, 2022.
  5. Sofronova V, Fukushima Y, Masuno M, Naka M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Moriwaki T, Iwata R, Terawaki S, Yamanouchi Y, Otomo T. A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. Human Genome Variation. 9, 26, 2022.
  6. Tabata T, Kuramoto Y, Ohtani T, Miyawaki H, Miyashita Y, Sera F, Kioka H, Higo S, Asano Y, Hikoso S, Sakata Y. Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series. Internal Medicine. 61, 1987-1993, 2022.
  7. Fujita S, Nishizawa H, Miyashita Y, Imada T, Yamaguchi T, Murano T, Bujo H, Asano Y, Kozawa J, Maeda N, Shimomura I. Genetic assessment using whole-exome sequencing for a young hypertriglyceridemic patient with repeated acute pancreatitis. Endocrine Journal. 69, 1101-1108, 2022.
  8. Fujita S, Horitani E, Miyashita Y, Fujita Y, Fukui K, Kamada Y, Mineo I, Asano Y, Iwahashi H, Kozawa J, Shimomura I. Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction. Journal of the Endocrine Society. 6, bvac008, 2022.
  9. Ohata Y, Kakimoto H, Seki Y, Ishihara Y, Nakano Y, Yamamoto K, Takeyari S, Fujiwara M, Kitaoka T, Takakuwa S, Kubota T, Ozono K. Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families. Bone Reports. 17, 101637, 2022.
  10. 根木 玲子. 妊娠と静脈血栓症および治療量抗凝固療法に関する研究. 日本血栓止血学会誌. 33, 448-456, 2022.