Name

OKAZAKI Tetsuya

Affiliation

Tottori University Hospital , Clinical Genetics

Title

Assistant Professor

Degree

• Doctor , Tottori University , Coursework , 2019.09

Research Achievement (Published Thesis)

• Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation. , Okazaki T, Saito Y, Sugita K, Nosaka K, Ohno K, Hiraoka Y, Kasagi N, Ebiki M, Narai S, Kawashima Y, Takano S, Kai M, Adachi K, Yamamoto O, Nanba E, Maegaki Y. , Yonago Acta Med , 2019.03 , There is Review , The Multiple Authorship , English

• Three Japanese patients with 3p13 microdeletions involving FOXP1. , Yamamoto-Shimojima K, Okamoto N, Matsumura W, Okazaki T, Yamamoto T. , Brain Dev. , 2019.03 , There is Review , The Simple Work , English

• Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy. , Itoh M, Dai H, Horike SI, Gonzalez J, Kitami Y, Meguro-Horike M, Kuki I, Shimakawa S, Yoshinaga H, Ota Y, Okazaki T, Maegaki Y, Nabatame S, Okazaki S, Kawawaki H, Ueno N, Goto YI, Kato Y. , Brain. , 2019.03 , There is Review , The Multiple Authorship , English

• Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. , Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N. , J Med Genet. , 2019.03 , There is Review , The Multiple Authorship , English

• MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. , Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS. , Am J Hum Genet. , 2018.12 , There is Review , The Multiple Authorship , English

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Updated on 2022/12/13