Noriko Miyake joined the Engle Lab as a postdoctoral fellow in April 2005. Noriko comes from Nagasaki, Japan where she obtained her MD from The Nagasaki University School of Medicine in March 1999. Following 3 years of clinical work, specializing in pediatrics, Noriko was a graduate student at the Nagasaki University Graduate School of Biomedical Sciences from April 2002-March 2005, working under the supervision of Prof. Noriko Niikawa and Prof. Hiroyuki Moriuchi. Her research examined the genetic basis of congenital abnormalities that include Kabuki make-up syndrome, Sotos syndrome and mental retardation. In the Engle lab, Noriko will be undertaking linkage analysis to identify genes that cause strabismus.
Curriculum Vitae
Education:
April 2002- March 2005, Ph.D. degree, Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences
Thesis title: Molecular Genetic analysis for congenital anomaly syndromes.
April 1993- March 1999 M.D. degree, Nagasaki University School of Medicine
Technical experience: Medical genetics, Molecular Genetics, Cytogenetics, DNA microarray CGH
Bioliography:
1. Miyake N, Visser R, Kinoshita A, Yoshiura K, Niikawa N, Kondoh T, Matsumoto N, Harada N, Okamoto N, Sonoda T, Naritomi K, Kaname T, Chinen Y, Tonoki H, Kurosawa K. Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome. Am J Med Genet 135A (1): 103-105, 2005.
2. Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura KI, Ohta T, Kishino T, Niikawa N, Matsumoto N. Phenotypegenotype correlation in two patients with 12q proximal deletion J Hum Genet 49:282-284, 2004.
3. Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. Molecular characterization of inv dup del(8p): analysis of five cases. Am J Med Genet 128A (2): 133-137, 2004.
4. Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. On the Reported 8p22-p23.1 Duplication in Kabuki Make-up Syndrome (KMS) and its Absence in Patients with Typical KMS. Am J Med Genet 128A (2):170-172, 2004.
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5. Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mut 22 (5): 378-387, 2003.
6. Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara M, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am J Hum Genet 72 (5): 1331-1337, 2003.
7. Hoglund P, Kurotaki N, Kytola S, Miyake N, Somer M, Matsumoto N. Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. J Med Genet 40 (1): 51-54, 2003.
8. Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N.Identification of eight novel NSD1 mutations in Sotos syndrome. J Med Genet 40 (11) :e126, 2003.
9. Fujimoto M, Matsumoto N, Tsujita T, Tomita H, Kondo S, Miyake N, Nakano M, Niikawa N. Characterization of the promoter region, first ten exons and nine intron-exon boundaries of the DNA-dependent protein kinase catalytic subunit gene, DNA-PKcs (XRCC7). DNA Res. 28 (2):151-154, 1997.
Contact information:
Noriko Miyake M.D., Ph.D.
Postdoctoral Fellow
Division of Genetics, Enders 5
Children's Hospital
300 Longwood Avenue
Boston, MA 02115
Fax: 617-730-0253
Email: Noriko Miyake
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