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Screening of Living Kidney Donors for Genetic Diseases: CON.

作者信息

Thomas Christie P

机构信息

Department of Internal Medicine and Iowa Institute of Human Genetics, University of Iowa Carver College of Medicine, Iowa City, Iowa and VA Medical Center, Iowa City, Iowa.

出版信息

Kidney360. 2024 Oct 1;5(10):1413-1415. doi: 10.34067/KID.0000000000000353. Epub 2024 May 15.

DOI:10.34067/KID.0000000000000353
PMID:38748490
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11556938/
Abstract
摘要

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JAMA Netw Open. 2023 Oct 2;6(10):e2339571. doi: 10.1001/jamanetworkopen.2023.39571.
2
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.多基因panel 及基因组检测中报告的 VUS 景观：是时候改变了。
Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30.
3
Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices.活体肾捐献者候选人的遗传学评估：综述及最佳实践建议。
Am J Transplant. 2023 May;23(5):597-607. doi: 10.1016/j.ajt.2023.02.020. Epub 2023 Mar 1.
4
Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.常染色体显性遗传多囊肾病临床人群外显子组测序。
JAMA. 2022 Dec 27;328(24):2412-2421. doi: 10.1001/jama.2022.22847.
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Prevalence Estimates of Predicted Pathogenic Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.人群测序数据库中预测致病性变异的流行率估计及其对 Alport 综合征的影响。
J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. doi: 10.1681/ASN.2020071065. Epub 2021 Jun 18.
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Design and Reporting Considerations for Genetic Screening Tests.遗传筛查测试的设计和报告考虑因素。
J Mol Diagn. 2020 May;22(5):599-609. doi: 10.1016/j.jmoldx.2020.01.014. Epub 2020 Feb 22.
7
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Sherloc：ACMG-AMP 变异分类标准的全面细化。
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
8
Quantifying Postdonation Risk of ESRD in Living Kidney Donors.量化活体肾供者捐献后发生终末期肾病的风险。
J Am Soc Nephrol. 2017 Sep;28(9):2749-2755. doi: 10.1681/ASN.2016101084. Epub 2017 Apr 27.
9
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
10
Genetic tests: clinical validity and clinical utility.基因检测：临床有效性与临床实用性。
Curr Protoc Hum Genet. 2014 Apr 24;81:9.15.1-9.15.8. doi: 10.1002/0471142905.hg0915s81.