Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?-Reference-Cited by-同舟云学术

Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?

Published:2023-01 Issue:1 Volume:110 Page:170-176
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mackey David A.^ORCID,Ong Jue-Sheng,MacGregor Stuart,Whiteman David C.,Craig Jamie E.,Lopez Sanchez M. Isabel G.,Kearns Lisa S.,Staffieri Sandra E.,Clarke Linda,McGuinness Myra B.,Meteoukki Wafaa,Samuel Sona,Ruddle Jonathan B.,Chen Celia,Fraser Clare L.,Harrison John,Howell Neil,Hewitt Alex W.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Is the disease risk and penetrance in Leber's hereditary optic neuropathy actually low?;Watson;Am. J. Hum. Genet.,2022

2. Establishing risk of vision loss in Leber hereditary optic neuropathy;Lopez Sanchez;Am. J. Hum. Genet.,2021

3. The UK Biobank resource with deep phenotyping and genomic data;Bycroft;Nature,2018

4. Cohort profile: the QSkin Sun and Health Study;Olsen;Int. J. Epidemiol.,2012

5. An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank;Yonova-Doing;Nat. Genet.,2021

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3. Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method;Orphanet Journal of Rare Diseases;2024-05-29

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5. Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree;Orphanet Journal of Rare Diseases;2024-04-06