RESEARCH

Keywords

• Genomic Medicine
• Clinical Genetics
• Mitochondrial Diseases
• Bioinformatics
• Direct Reprogramming

Main Research Topics and Interests

• Dx and Tx of mitochondrial diseases
• Genetics of hereditary: Cancer
• Direct reprogramming of β cells
• Regenerative therapy
• Tx of cardiovascular diseases

Publications (in English)

• Original Articles: 212
• Review Articles: 4
• Books: 2
• h-index: 52 (Scopus)
• Sum of Times Cited: 17,351 (Scopus)

Recent Main Publications

• Frazier A.E, Compton A.G, Kishita Y, Hock D.H, Welch A.E, Amarasekera S.S.C, Rius R, Formosa L.E, Imai-Okazaki A, Francis D, Wang M, Lake N.J, Tregoning S, Jabbari J.S, Lucattini A, Nitta K.R, Ohtake A, Murayama K, Amor D.J, McGillivray G, Wong F.Y, van der Knaap M.S, Jeroen Vermeulen R, Wiltshire E.J, Fletcher J.M, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann M.L, Arbuckle S, Rodriguez M, Taft R.J, Sadedin S, Cowley M.J, Minoche A.E, Calvo S.E, Mootha V.K, Ryan M.T, Okazaki Y, Stroud D.A, Simons C, Christodoulou J, Thorburn D.R. Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. Med (N Y) 2021;2(1):49-73. PMID: 33575671, PMCID: PMC7875323, DOI: 10.1016/j.medj.2020.06.004
• Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta, K. R, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients. Int J Cardiol 2021;In press. PMID: 34298071, DOI: 10.1016/j.ijcard.2021.06.042
• Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna N. N, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake, A, Okazaki, Y. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PLoS Genet, 2016;12(1) e1005679. PMID: 26741492, PMCID: PMC4704781, Doi: 10.1371/journal.pgen.1005679.
• More

Other Specific Comments

• Con-Current Position: Team Leader, Laboratory of Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences

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