Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment

  • Mizuguchi, Takeshi
  • Toyota, Tomoko
  • Miyatake, Satoko
  • Mitsuhashi, Satomi
  • Doi, Hiroshi
  • Kudo, Yosuke
  • Kishida, Hitaru
  • Hayashi, Noriko
  • Tsuburaya, Rie S
  • Kinoshita, Masako
  • Fukuyama, Tetsuhiro
  • Fukuda, Hiromi
  • Koshimizu, Eriko
  • Tsuchida, Naomi
  • Uchiyama, Yuri
  • Fujita, Atsushi
  • Takata, Atsushi
  • Miyake, Noriko
  • Kato, Mitsuhiro
  • Tanaka, Fumiaki
  • Adachi, Hiroaki
  • Matsumoto, Naomichi

  • Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan

    Department of Neurology, University of Occupational and Environmental Health School of Medicine, Kitakyushu 807-8555, Japan

    Clinical Genetics Department, Yokohama City University Hospital, Yokohama 236-0004, Japan

    Department of Genomic Function and Diversity, Medical Research Institute Tokyo Medical and Dental University, Tokyo 113-8510, Japan

    Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan

    Department of Neurology, Yokohama Brain and Spine Center, Yokohama 235-0012, Japan

    Department of Neurology, Yokohama City University Medical Center, Yokohama 232-0024, Japan

    Department of Neurology, Yamato Municipal Hospital, Yamato 242-8602, Japan

    Department of Pediatric Neurology, National Hospital Organization Utano National Hospital, Kyoto 616-8255, Japan

    Department of Neurology, National Hospital Organization Utano National Hospital, Kyoto 616-8255, Japan

    Department of Pediatrics, Shinshu University School of Medicine, Matsumoto 390-8621, Japan

    Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan

Correspondence to: Takeshi Mizuguchi Department of Human Genetics, Yokohama City University Graduate School of Medicine 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan E-mail: [email protected]

Correspondence may also be addressed to: Naomichi Matsumoto E-mail: [email protected]

Received July 09, 2020

Received in revised form November 02, 2020

Accepted November 17, 2020

This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model)

Brain 144(4):p 1103-1117, April 2021. | DOI: 10.1093/brain/awab021
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