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Editorial: Diagnosis and identification of novel disorders and ultra-rare disorders in science and clinical routine.

作者信息

Durmus Hacer

机构信息

Department of Neurology, Istanbul Faculty of Medicine, Istanbul, Türkiye.

出版信息

Front Genet. 2024 Nov 20;15:1522931. doi: 10.3389/fgene.2024.1522931. eCollection 2024.

DOI:10.3389/fgene.2024.1522931
PMID:39634273
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11614831/
Abstract
摘要

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本文引用的文献

1
Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation.急危重症患儿外显子组测序对患者及其家庭的急性和长期管理具有影响：一项回顾性区域性评估。
Eur J Med Genet. 2022 Sep;65(9):104571. doi: 10.1016/j.ejmg.2022.104571. Epub 2022 Jul 14.
2
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.危重症婴儿的快速外显子组测序：从法国地区医院的角度看在常规护理中的实施情况
Eur J Hum Genet. 2022 Sep;30(9):1076-1082. doi: 10.1038/s41431-022-01133-7. Epub 2022 Jun 22.
3
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.快速外显子组测序联合线粒体DNA测序在疑似遗传疾病的危重症儿科患者中的临床应用
Front Genet. 2021 Aug 19;12:725259. doi: 10.3389/fgene.2021.725259. eCollection 2021.
4
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.一项针对重症婴儿家长对快速全基因组和外显子组测序认知的前瞻性研究。
Am J Hum Genet. 2020 Nov 5;107(5):953-962. doi: 10.1016/j.ajhg.2020.10.004.