Publication

Publication 2019
  1. Dateki S, Watanabe S, Mishima H, Shirakawa T, Morikawa M, Kinoshita E, Yoshiura KI, Moriuchi H. A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency. J Hum Genet. 2019 Apr;64(4):341-346. doi: 10.1038/s10038-019-0566-8. Epub 2019 Jan 28. [Epub ahead of print] PMID:30692597
  2. Shimizu H, Watanabe S, Kinoshita A, Mishima H, Nishimura G, Moriuchi H, Yoshiura KI, Dateki S. Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome. J Hum Genet. 2019 May;64(5):467-471. doi: 10.1038/s10038-019-0581-9. Epub 2019 Feb 22. PMID: 30796325.
  3. Morimoto Y, Yoshida S, Kinoshita A, Satoh C, Mishima H, Yamaguchi N, Matsuda K, Sakaguchi M, Tanaka T, Komohara Y, Imamura A, Ozawa H, Nakashima M, Kurotaki N, Kishino T, Yoshiura KI, Ono S. Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities. Neurology. 2019 May 14;92(20):e2364-e2374. doi: 10.1212/WNL.0000000000007505. Epub 2019 Apr 19. PMID: 31004071
  4. Yamashita Y, Nishikawa A, Iwahashi Y, Fujimoto M, Sasaki I, Mishima H, Kinoshita A, Hemmi H, Kanazawa N, Ohshima K, Imadome KI, Murata SI, Yoshiura KI, Kaisho T, Sonoki T, Tamura S. Identification of a novel CCDC22 mutation in a patient with severe Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia. Int J Hematol. 2019 Jun;109(6):744-750. doi: 10.1007/s12185-019-02595-0. Epub 2019 Jan 31.
  5. Matsuno S, Furuta H, Kosaka K, Doi A, Yorifuji T, Fukuda T, Senmaru T, Uraki S, Matutani N, Furuta M, Mishima H, Iwakura H, Nishi M, Yoshiura K, Fukui M, Akamizu T. Identification of a variant-associated with early-onset diabetes in the intron of INS gene with exome sequencing. J Diabetes Investig. 2019 Jul;10(4):947-950. doi: 10.1111/jdi.12974. Epub 2018 Dec 5. [Epub ahead of print]. PMID: 30414308
  6. Mishima H, Suzuki H, Doi M, Miyazaki M, Watanabe S, Matsumoto T, Morifuji K, Moriuchi H, Yoshiura KI, Kondoh T, Kosaki K. Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan. J Hum Genet. 2019 Aug;64(8):789-794. doi: 10.1038/s10038-019-0619-z. 2019 May 29.
  7. Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, Sharma DB, Williams TJ, Chai Y, Amendt BA, Liao EC, Mitchell LE, Bassuk AG, Gregory S, Ashley-Koch A, Shaw GM, Finnell RH, Schutte BC. The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation. Hum Mol Genet. 2019 Jan 25. doi: 10.1093/hmg/ddz010.
  8. Masui D, Fukahori S, Mizuochi T, Watanabe Y, Fukui K, Ishii S, Saikusa N, Hashizume N, Higashidate N, Sakamoto S, Takato A, Yoshiura KI, Tanaka Y, Yagi M. Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report. Surgical Case Reports 2019 Aug 14;5(1):132. doi: 10.1186/s40792-019-0688-4.
  9. 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.
  10. Tanaka A, Matsuse M, Saenko V, Nakao T, Yamanouchi K, Sakimura C, Yano H, Nishihara E, Hirokawa M, Suzuki K, Miyauchi A, Eguchi S, Yoshiura KI, Yamashita S, Nagayasu T, Mitsutake N. TERT mRNA Expression as a Novel Prognostic Marker in Papillary Thyroid Carcinomas. Thyroid. 2019 Aug;29(8):1105-1114. doi: 10.1089/thy.2018.0695.
  11. Endo Y, Koga T, Nakashima M, Mishima H, Yoshiura KI, Kawakami A. Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations. Clin Exp Rheumatol. 2019 Nov-Dec; 37 Suppl 121(6):161-162.
  12. Hamaguchi Y, Aoki M, Watanabe S, Mishima H, Yoshiura KI, Moriuchi H, Dateki S. KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup). Hum Genome Var. 2019 Dec 13;6:54. doi: 10.1038/s41439-019-0085-3. eCollection 2019.
  13. 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. Print 2020. (IF: 7.570)
  14. 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. [Epub ahead of print] (IF: 2.248)