Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2

Yu Teranishi; Satoru Miyawaki; Hiroki Hongo; Shogo Dofuku; Atsushi Okano; Shunsaku Takayanagi; Takahiro Ota; Jun Yoshimura; Wei Qu; Jun Mitsui; Hirofumi Nakatomi; Shinichi Morishita; Shoji Tsuji; Nobuhito Saito

doi:10.1136/jmedgenet-2020-106973

Article info

Genotype-phenotype correlations

Original research

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2

Authors

Yu Teranishi Department of Neurosurgery, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Satoru Miyawaki Department of Neurosurgery, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Hiroki Hongo Department of Neurosurgery, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Shogo Dofuku Department of Neurosurgery, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Atsushi Okano Department of Neurosurgery, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Shunsaku Takayanagi Department of Neurosurgery, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Takahiro Ota Department of Neurosurgery, Tokyo Metropolitan Tama Medical Center, Fuchu, Tokyo, Japan PubMed articles Google scholar articles
Jun Yoshimura Department of Computational Biology and Medical Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Wei Qu Department of Computational Biology and Medical Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Jun Mitsui Department of Molecular Neurology, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Hirofumi Nakatomi Department of Neurosurgery, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Shinichi Morishita Department of Computational Biology and Medical Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Shoji Tsuji Department of Molecular Neurology, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Nobuhito Saito Department of Neurosurgery, The University of Tokyo, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles

Correspondence to Dr Satoru Miyawaki, Department of Neurosurgery, The University of Tokyo, Bunkyo-ku 113-0033, Japan; miyawaki-tky{at}umin.ac.jp

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Citation

Teranishi Y, Miyawaki S, Hongo H, et al

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2

Journal of Medical Genetics 2021;58:701-711.

Publication history

Received March 4, 2020
Revised August 1, 2020
Accepted August 4, 2020
First published October 16, 2020.

Online issue publication

January 08, 2022

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