Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing-Reference-Cited by-同舟云学术

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing

Published:2022-11-07 Issue:12 Volume:43 Page:2251-2264
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Suga Akiko¹,Yoshitake Kazutoshi¹²,Minematsu Naoko¹,Tsunoda Kazushige³,Fujinami Kaoru³^ORCID,Miyake Yozo⁴,Kuniyoshi Kazuki⁵,Hayashi Takaaki⁶,Mizobuchi Kei⁶,Ueno Shinji⁷⁸,Terasaki Hiroko⁹,Kominami Taro⁷,Nao‐I Nobuhisa¹⁰,Mawatari Go¹⁰,Mizota Atsushi¹¹,Shinoda Kei¹¹¹²,Kondo Mineo¹³,Kato Kumiko¹³,Sekiryu Tetsuju¹⁴,Nakamura Makoto¹⁵,Kusuhara Sentaro¹⁵,Yamamoto Hiroyuki¹⁶,Yamamoto Shuji¹⁶,Mochizuki Kiyofumi¹⁷,Kondo Hiroyuki¹⁸,Matsushita Itsuka¹⁸,Kameya Shuhei¹⁹,Fukuchi Takeo²⁰,Hatase Tetsuhisa²⁰,Horiguchi Masayuki²¹,Shimada Yoshiaki²¹,Tanikawa Atsuhiro²¹,Yamamoto Shuichi²²,Miura Gen²²,Ito Nana²²,Murakami Akira²³,Fujimaki Takuro²³²⁴,Hotta Yoshihiro²⁵,Tanaka Koji²⁶,Iwata Takeshi¹^ORCID

Affiliation:

1. Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center Tokyo Japan

2. Laboratory of Aquatic Molecular Biology and Biotechnology, Aquatic Bioscience, Graduate School of Agricultural and Life Sciences The University of Tokyo Tokyo Japan

3. Division of Vision Research, National Institute of Sensory Organs National Hospital Organization Tokyo Medical Center Tokyo Japan

4. Kobe City Eye Hospital Kobe Japan

5. Department of Ophthalmology Kindai University Faculty of Medicine Osaka Japan

6. Department of Ophthalmology The Jikei University School of Medicine Tokyo Japan

7. Department of Ophthalmology Nagoya University Graduate School of Medicine Nagoya Japan

8. Department of Ophthalmology Hirosaki University Graduate School of Medicine Hirosaki Japan

9. Nagoya University, Institutes of Innovation for Future Society Nagoya Japan

10. Department of Ophthalmology, Faculty of Medicine University of Miyazaki Miyazaki Japan

11. Department of Ophthalmology Teikyo University School of Medicine Teikyo Japan

12. Department of Ophthalmology Saitama Medical University Iruma‐gun Japan

13. Department of Ophthalmology Mie University Graduate School of Medicine Tsu Japan

14. Department of Ophthalmology Fukushima Medical University School of Medicine Fukushima Japan

15. Division of Ophthalmology, Department of Surgery Kobe University Graduate School of Medicine Kobe Japan

16. Jin Eye Clinic Kobe Japan

17. Department of Ophthalmology Gifu University Graduate School of Medicine Gifu Japan

18. Department of Ophthalmology University of Occupational and Environmental Health Kitakyushu Japan

19. Nippon Medical School Chiba Hokusoh Hospital Chiba Japan

20. Division of Ophthalmology and Visual Science, Graduate School of Medical and Dental Sciences Niigata University Niigata Japan

21. Department of Ophthalmology Fujita Health University Fujita Japan

22. Department of Ophthalmology and Visual Science Chiba University Graduate School of Medicine Chiba Japan

23. Department of Ophthalmology Juntendo University Graduate School of Medicine Bunkyo‐ku Japan

24. Kohinata Eye Clinic Tokyo Japan

25. Department of Ophthalmology Hamamatsu University School of Medicine Hamamatsu Japan

26. Division of Ophthalmology, Department of Visual Sciences Nihon University School of Medicine Chiyoda‐ku Japan

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24492

Reference48 articles.

1. Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy

2. Retinal gene therapy: an eye-opener of the 21st century

3. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

4. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

5. Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

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