Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing-Reference-Cited by-同舟云学术

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

Published:2020-01 Issue:1 Volume:22 Page:53-59
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Evans D. Gareth,Hartley Claire L.,Smith Philip T.,King Andrew T.,Bowers Naomi L.,Tobi Simon,Wallace Andrew J.,Perry Mary,Anup Raji,Lloyd Simon K.W.,Rutherford Scott A.^ORCID,Hammerbeck-Ward Charlotte,Pathmanaban Omar N.,Stapleton Emma,Freeman Simon R.^ORCID,Kellett Mark,Halliday Dorothy,Parry Allyson,Gair Juliette J.^ORCID,Axon Patrick,Laitt Roger,Thomas Owen,Afridi Shazia K.,Obholzer Rupert,Duff Chris,Stivaros Stavros M.,Vassallo Grace,Harkness Elaine F.,Smith Miriam J.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-019-0598-7.pdf

Reference28 articles.

1. Evans DG, King AT, Bowers NL, et al. Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing. Genet Med. 2018 Dec 7; https://doi.org/10.1038/s41436-018-0384-y [Epub ahead of print].

2. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45:575–578.

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