Publication

Publication 2012
  1. Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nat Genet 44(5):586-592, 2012 May.
  2. Matsuse M, Sasaki K, Nishihara E, Minami S, Hayashida C, Kondo H, Suzuki K, Saenko V, Yoshiura K, Mitsutake N, Yamashita S. Copy number alteration and uniparental disomy analysis categorizes Japanese papillary thyroid carcinomas into distinct groups. PLoS One 7(4):e36063, 2012.
  3. Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. J Hum Genet 57(5): 338-341, 2012 May.
  4. Arai J, Tsuchiya T, Oikawa M, Mochinaga K, Hayashi T, Yoshiura K, Tsukamoto K, Yamasaki N, Matsumoto K, Miyazaki T, Nagayasu T.  Clinical and molecular analysis of synchronous double lung cancers. Lung Cancer 77(2):281-287, 2012 Aug.
  5. Mishima H, Aerts J, Katayama T, Bonnal RJ, Yoshiura K. The Ruby UCSC API: accessing the UCSC genome database using Ruby. BMC Bioinformatics 13: 240, 2012 Sep 21.
  6. Hikida M, Tsuda M, Watanabe A, Kinoshita A, Akita S, Hirano A, Uchiyama T, Yoshiura K. No evidence of association between 8q24 and susceptibility to nonsyndromic cleft lip with or without palate in Japanese population. Cleft Palate Craniofac J 49(6): 714-717, 2012 Nov.
  7. Kawakami A, Migita K, Ida H, Yoshiura K, Arima K, Eguchi K. [109th Scientific Meeting of the Japanese Society of Internal Medicine: educational lecture: 14. Autoinflammatory syndrome]. Nihon Naika Gakkai Zasshi 101(9): 2733-2739, 2012 Sep 10.