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Profiling the developmental signatures of genetic global developmental delay.

作者信息

Metzler Marina, Vesoulis Zachary A, Wambach Jennifer A

机构信息

Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, 660 S. Euclid Avenue, St. Louis, Missouri, USA.

出版信息

Pediatr Res. 2025 Jul 9. doi: 10.1038/s41390-025-04268-7.

DOI:10.1038/s41390-025-04268-7
PMID:40634692
Abstract
摘要

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本文引用的文献

1
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.三联外显子测序对神经发育障碍儿童的诊断效用
JAMA Netw Open. 2025 Mar 3;8(3):e251807. doi: 10.1001/jamanetworkopen.2025.1807.
2
Genetic Testing for Global Developmental Delay in Early Childhood.儿童早期全面发育迟缓的基因检测。
JAMA Netw Open. 2024 Jun 3;7(6):e2415084. doi: 10.1001/jamanetworkopen.2024.15084.
3
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
巴西中部地区对不明原因智力障碍、全面发育迟缓伴多发先天畸形患者进行核型分析、微阵列分析和全外显子测序的诊断率
PLoS One. 2022 Apr 7;17(4):e0266493. doi: 10.1371/journal.pone.0266493. eCollection 2022.
4
Cognitive outcomes in late childhood and adolescence of neonatal hypoxic-ischemic encephalopathy.新生儿缺氧缺血性脑病在儿童晚期和青少年期的认知结局
Clin Exp Pediatr. 2021 Dec;64(12):608-618. doi: 10.3345/cep.2021.00164. Epub 2021 May 24.
5
Utility of Chromosomal Microarray in Children with Unexplained Developmental Delay/Intellectual Disability.染色体微阵列分析在不明原因发育迟缓/智力障碍儿童中的应用。
Fetal Pediatr Pathol. 2022 Apr;41(2):208-218. doi: 10.1080/15513815.2020.1791292. Epub 2020 Jul 23.
6
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.基因组和外显子组测序以及染色体微阵列在疑似遗传疾病儿童中的诊断及临床应用的荟萃分析。
NPJ Genom Med. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8. eCollection 2018.
7
Current evidence-based recommendations on investigating children with global developmental delay.关于对全面发育迟缓儿童进行调查的当前循证建议。
Arch Dis Child. 2017 Nov;102(11):1071-1076. doi: 10.1136/archdischild-2016-311271.
8
Comprehensive evaluation of the child with intellectual disability or global developmental delays.对智力残疾或全面发育迟缓儿童的综合评估。
Pediatrics. 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839.
9
Clinical whole exome sequencing in child neurology practice.临床全外显子组测序在儿童神经科的应用。
Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30.
10
Predictors of severity and outcome of global developmental delay without definitive etiologic yield: a prospective observational study.无明确病因学结果的全面发育迟缓严重程度和结局的预测因素：一项前瞻性观察研究。
BMC Pediatr. 2014 Feb 12;14:40. doi: 10.1186/1471-2431-14-40.