Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools-Reference-Cited by-同舟云学术

Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools

Published:2019-09 Issue:9 Volume:21 Page:1969-1976
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Vasiljevic Eva,Ye Zhan,Pavelec Derek M.,Darst Burcu F.,Engelman Corinne D.,Baker Mei W.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-019-0468-3.pdf

Reference27 articles.

1. Burwell SM, Secretary of Health and Human Services. Letter to Joseph A. Bocchini, Committee Chairperson of the Advisory Committee on Heritable Disorders in Newborns and Children. 2016. http://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/secretary-final-response-xald.pdf. Accessed 5 March 2019.

2. Steinberg SJ, Raymond GV, Braverman NE, Moser AB. Peroxisome biogenesis disorders, Zellweger syndrome spectrum. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 2003 [updated 2012].

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions;Genetics in Medicine Open;2024

2. Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature;Molecular Genetics and Metabolism;2023-07

3. A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders;npj Genomic Medicine;2022-12-19

4. Infant Presenting With Developmental Regression and Infantile Spasms Diagnosed as Zellweger Spectrum Disorder;Journal of Neonatology;2022-06

5. PEX6 Mutations in Peroxisomal Biogenesis Disorders;Ophthalmology Science;2021-06