Rchr
J-GLOBAL ID:201201043553289160   Update date: Jan. 07, 2020

MIYAKE Noriko

ミヤケ ノリコ | MIYAKE Noriko
Affiliation and department:
Job title: Associate Professor
Homepage URL  (2): http://www-user.yokohama-cu.ac.jp/~hygiene/http://www-user.yokohama-cu.ac.jp/~hygiene/
Research field  (2): Human genetics ,  Pediatrics
Papers (285):
  • Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomiza S, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Oho K, Kato M, Ogata K, Matsumoto N. Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. Am J Hum Genet. 2020. 106. 1. 13-25
  • 306. Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. J Hum Genet. 2019. 64. 12. 1173-1186
  • 301. Okubo M, Doi H, Fukai R, Fujita A, Mitsuhashi S, Hashiguchi S, Kishida H, Ueda N, Morihara K, Ogasawara A, Kawamoto Y, Takahashi T, Takahashi K, Nakamura H, Kunii M, Tada M, Katsumoto A, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Suzuki J, Ito Y, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F. GGC repeat expansion of NOTCH2NLC in adult patients with leukoencephalopathy. Ann Neurol. 2019. 86. 6. 962-968
  • 298. Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, Rivolta C, Campos-Xavier B. The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene. Genet Med. 2019. 21. 12. 2734-2743
  • 300. Alkanaq AN, Hamanaka K, Sekiguchi F, Taguri M, Takata A, Miyake N, Miyatake S, Mizuguchi T, Matsumoto N. Comparison of mitochondrial DNA variants detection using short- and long-read sequencing. J Hum Genet. 2019. 64. 11. 1107-1116
more...
MISC (4):
Books (3):
  • Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
    Adv Exp Med Biol. 2014
  • Coffin-Siris syndrome
    2019
  • Aicardi syndrome
    2019
Lectures and oral presentations  (21):
  • Carbohydrate sulfotransferase 14 abnormality in human.
    (日本人類遺伝学会第55回大会 2010)
  • Loss-of-function mutations of CHST14 cause a new type of autosomal recessive Ehlers-Danlos syndrome.
    (American Society of Human Genetics 2010)
  • CHST14 mutations in Ehlers-Danlos syndrome.
    (The 11th East Asian Union of Human Genetics Annual Meeting 2011)
  • 次世代シークエンサーを用いた新規疾患遺伝子の同定と裏話
    (第8回Keio Pediatrics Endocrinology and Metabolism, multidisciplinary conference 2013)
  • NGS application for rare congenital diseases.
    (7th international Symposium of Rare Diseases 2013)
more...
Education (1):
  • Nagasaki University
Work history (1):
  • Assistant Professor, Department of Human Genetics, Yokohama City University Graduate School of Medicine
Awards (1):
  • 2014 - John M. Opitz Young Investigator Award
Association Membership(s) (4):
THE JAPANESE SOCIETY FOR GENETIC COUNSELING ,  American Sociery of Human Genetics ,  Japan pediatric Society ,  Japan Society of Human Genetics
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