Publication

Publication 2020
  1. Shibano M, Watanabe A, Takano N, Mishima H, Kinoshita A, Yoshiura KI, Shibahara T. Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population. Cleft Palate Craniofac J. 2020 Jan;57(1):80-87. doi: 10.1177/1055665619857650. PMID: 31337262
  2. Taguchi M, Mishima H, Shiozawa Y, Hayashida C, Kinoshita A, Nannya Y, Makishima H, Horai M, Matsuo M, Sato S, Itonaga H, Kato T, Taniguchi H, Imanishi D, Imaizumi Y, Hata T, Takenaka M, Moriuchi Y, Shiraishi Y, Miyano S, Ogawa S, Yoshiura KI, Miyazaki Y. Genome analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki. Haematologica. 2020 Jan 31;105(2):358-365. doi: 10.3324/haematol.2019.219386.
  3. Vos RA, Katayama T, Mishima H, Kawano S, Kawashima S, Kim J-D, Moriya Y, Tokimatsu T, Yamaguchi A, Yamamoto Y, Wu H, Amstutz P, Antezana E, Aoki NP, Arakawa K, Bolleman JT, Bolton E, Bonnal RJP, Bono H, Burger K, Chiba H, Cohen KB, Deutsch EW, Fernández-Breis JT, Fu G, Fujisawa T, Fukushima A, García A, Goto N, Groza T, Hercus C, Hoehndorf R, Itaya K, Juty N, Kawashima T, Kim J-H, Kinjo AR, Kotera M, Kozaki K, Kumagai S, Kushida T, Lütteke T, Matsubara M, Miyamoto J, Mohsen A, Mori H, Naito Y, Nakazato T, Nguyen-Xuan J, Nishida K, Nishida N, Nishide H, Ogishima S, Ohta T, Okuda S, Paten B, Perret J-L, Prathipati P, Prins P, Queralt-Rosinach N, Shinmachi D, Suzuki S, Tabata T, Takatsuki T, Taylor K, Thompson M, Uchiyama I, Vieira B, Wei C-H, Wilkinson M, Yamada I, Yamanaka R, Yoshitake K, Yoshizawa AC, Dumontier M, Kosaki K, Takagi T: BioHackathon 2015: Semantics of data for life sciences and reproducible research. F1000Res 2020, Feb 24;9:136. doi:10.12688/f1000research.18236.1
  4. Shimizu K, Oba D, Nambu R, Tanaka M, Oguma E, Murayama K, Ohtake A, Yoshiura KI, Ohashi H. Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation. Mol Genet Genomic Med. 2020 Mar; 8(3):e1129. doi: 10.1002/mgg3.1129.
  5. Morita S, Takeshima K, Ariyasu H, Furukawa Y, Kishimoto S, Tsuji T, Uraki S, Mishima H, Kinoshita A, Takahashi Y, Inaba H, Iwakura H, Furuta H, Nishi M, Doi A, Murata SI, Yoshiura KI, Akamizu T. Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report. BMC Endocr Disord. 2020 Jun 22;20(1):90. doi: 10.1186/s12902-020-00574-9.
  6. Nakano Y, Komiya C, Shimizu H, Mishima H, Shiba K, Tsujimoto K, Ikeda K, Kashimada K, Dateki S, Yoshiura KI, Ogawa Y, Yamada T. A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5. Endocr J. 2020 Nov 28;67(11):1099-1105. doi: 10.1507/endocrj.EJ20-0044.
  7. Ishikawa T, Mishima H, Barc J, Takahashi MP, Hirono K, Terada S, Kowase S, Sato T, Mukai Y, Yui Y, Ohkubo K, Kimoto H, Watanabe H, Hata Y, Aiba T, Ohno S, Chishaki A, Shimizu W, Horie M, Ichida F, Nogami A, Yoshiura KI, Schott JJ, Makita N. Cardiac Emerinopathy: A Non-syndromic Nuclear Envelopathy with Increased Risk of Thromboembolic Stroke due to Progressive Atrial Standstill and Left Ventricular Non-compaction. Circ Arrhythm Electrophysiol. 2020 Oct;13(10):e008712. doi: 10.1161/CIRCEP.120.008712.
  8. Yamashita Y, Morita S, Hosoi H, Kobata H, Kishimoto S, Ishibashi T, Mishima H, Kinoshita A, Backes BJ, Yoshiura KI, Papa FR, Sonoki T, Tamura S. Targeting Adaptive IRE1α Signaling and PLK2 in Multiple Myeloma: Possible Anti-Tumor Mechanisms of KIRA8 and Nilotinib. Int J Mol Sci. 2020 Aug 31;21(17):6314. doi: 10.3390/ijms21176314. PMID: 32878237
  9. Kaneko N, Kurata M, Yamamoto T, Shigemura T, Agematsu K, Yamazaki T, Takeda H, Sawasaki T, Koga T, Kawakami A, Yachie A, Migita K, Yoshiura K-i, Urano T, Masumoto J. KN3014, a piperidine-containing small compound, inhibits auto-secretion of IL-1β from PBMCs in a patient with Muckle–Wells syndrome. Scientific Reports 2020 Aug 11;10(1):13562. doi: 10.1038/s41598-020-70513-0.
  10. Otsuki Y, Ueda K, Nuri T, Satoh C, Maekawa R, Yoshiura KI. EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report. Medicine (Baltimore). 2020 Oct 30;99(44):e22816. doi: 10.1097/MD.0000000000022816.
  11. Morishima S, Maeda M, Itonaga T, Sato-Kawano N, Yoshiura KI, Ihara K. Sphenoethmoidal meningoencephalocele with variable hypopituitarism: A case report and review of literature. Clinical Pediatric Endocrinology 2020;29(4):183-187. doi: 10.1297/cpe.29.183.
  12. Koga T, Sato S, Mishima H, Migita K, Endo Y, Umeda M, Sumiyoshi R, Nonaka F, Fukui S, Kawashiri SY, Iwamoto N, Ichinose K, Tamai M, Nakamura H, Origuchi T, Ueki Y, Masumoto J, Agematsu K, Yachie A, Yoshiura KI, Eguchi K, Kawakami A. Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study. Clin Exp Rheumatol. 2020 Sep-Oct;38 Suppl 127(5):35-41.
  13. Satoh C, Kondoh T, Shimizu H, Kinoshita A, Mishima H, Nishimura G, Miyazaki M, Okano K, Kumai Y, Yoshiura KI. Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities. Eur J Med Genet. 2020 Dec 25;64(2):104125. doi: 10.1016/j.ejmg.2020.104125. Online ahead of print. PMID: 33359165