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Functional genomics
Original research
Strategic validation of variants of uncertain significance in ECHS1 genetic testing

Authors

  • Yoshihito Kishita Department of Life Science, Faculty of Science and Engineering, Kindai University, Higashiosaka, Osaka, Japan Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Ayumu Sugiura Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Takanori Onuki Department of Metabolism, Chiba Children's Hospital, Midori-ku, Chiba, Japan PubMed articlesGoogle scholar articles
  • Tomohiro Ebihara Department of Neonatology, Chiba Children's Hospital, Midori-ku, Chiba, Japan PubMed articlesGoogle scholar articles
  • Tetsuro Matsuhashi Department of Metabolism, Chiba Children's Hospital, Midori-ku, Chiba, Japan PubMed articlesGoogle scholar articles
  • Masaru Shimura Department of Metabolism, Chiba Children's Hospital, Midori-ku, Chiba, Japan PubMed articlesGoogle scholar articles
  • Takuya Fushimi Department of Metabolism, Chiba Children's Hospital, Midori-ku, Chiba, Japan PubMed articlesGoogle scholar articles
  • Noriko Ichino Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Yoshie Nagatakidani Department of Life Science, Faculty of Science and Engineering, Kindai University, Higashiosaka, Osaka, Japan PubMed articlesGoogle scholar articles
  • Hitomi Nishihata Department of Life Science, Faculty of Science and Engineering, Kindai University, Higashiosaka, Osaka, Japan PubMed articlesGoogle scholar articles
  • Kazuhiro R Nitta Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Yukiko Yatsuka Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Atsuko Imai-Okazaki Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan PubMed articlesGoogle scholar articles
  • Yibo Wu Chemical Biology Mass Spectrometry Platform (CHEMBIOMS), Faculty of Sciences, University of Geneva, Geneve, Switzerland YCI Laboratory for Next-Generation Proteomics, RIKEN Center of Integrative Medical Sciences, Yokohama, Kanagawa, Japan PubMed articlesGoogle scholar articles
  • Hitoshi Osaka Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan PubMed articlesGoogle scholar articles
  • Akira Ohtake Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University, Moroyama, Saitama, Japan Center for Intractable Diseases, Saitama Medical University Hospital, Moroyama, Saitama, Japan PubMed articlesGoogle scholar articles
  • Kei Murayama Department of Metabolism, Chiba Children's Hospital, Midori-ku, Chiba, Japan Center for Medical Genetics, Chiba Children's Hospital, Midori-ku, Chiba, Japan PubMed articlesGoogle scholar articles
  • Yasushi Okazaki Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Yasushi Okazaki, Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan; ya-okazaki{at}juntendo.ac.jp
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Citation

Kishita Y, Sugiura A, Onuki T, et al
Strategic validation of variants of uncertain significance in ECHS1 genetic testing
Journal of Medical Genetics 2023;60:1006-1015.

Publication history

  • Received November 1, 2022
  • Accepted April 3, 2023
  • First published April 13, 2023.
Online issue publication 
October 18, 2023

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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.