| [1] |
Chelly J, Khelfaoui M, Francis F, et al. Genetics and pathophysiology of mental retardation[J]. Eur J Hum Genet, 2006, 14(6):701-713.
pmid: 16721406
|
| [2] |
中华医学会儿科学分会神经学组, 中国医师协会神经内科分会儿童神经疾病专业委员会. 儿童智力障碍或全面发育迟缓病因诊断策略专家共识[J]. 中华儿科杂志, 2018, 56(11):806-810.
|
| [3] |
van Bokhoven H. Genetic and epigenetic networks in intellectual disabilities[J]. Annu Rev Genet, 2011, 45:81-104.
doi: 10.1146/annurev-genet-110410-132512
pmid: 21910631
|
| [4] |
Kirov G. CNVs in neuropsychiatric disorders[J]. Hum Mol Genet, 2015, 24(R1):R45-49.
doi: 10.1093/hmg/ddv253
URL
|
| [5] |
Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders[J]. Nat Rev Genet, 2016, 17(1):9-18.
doi: 10.1038/nrg3999
URL
|
| [6] |
Chau MHK, Wang H, Lai Y, et al. Low-pass genome sequencing: A validated method in clinical cytogenetics[J]. Hum Genet, 2020, 139(11):1403-1415.
doi: 10.1007/s00439-020-02185-9
URL
|
| [7] |
Zhou B, Ho SS, Zhang X, et al. Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis[J]. J Med Genet, 2018, 55(11):735-743.
doi: 10.1136/jmedgenet-2018-105272
pmid: 30061371
|
| [8] |
Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)[J]. Genet Med, 2020, 22(2):245-257.
|
| [9] |
马京梅. 拷贝数变异的报告解读技术标准的联合共识[J]. 中华围产医学杂志, 2020, 23(2):104.
|
| [10] |
Richards S, Aziz N, Bale S, et al. 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[J]. Genet Med, 2015, 17(5):405-424.
doi: 10.1038/gim.2015.30
pmid: 25741868
|
| [11] |
陈璇, 秦娜, 邓艳春. 基于美国医学遗传学和基因组学会指南的基因检测报告解读[J]. 癫痫杂志, 2017, 3(5):395-400.
|
| [12] |
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies[J]. Am J Hum Genet, 2010, 86(5):749-764.
doi: 10.1016/j.ajhg.2010.04.006
pmid: 20466091
|
| [13] |
Dong Z, Zhang J, Hu P, et al. Low-pass whole-genome sequencing in clinical cytogenetics: A validated approach[J]. Genet Med, 2016, 18(9):940-948.
doi: 10.1038/gim.2015.199
URL
|
| [14] |
Gross AM, Ajay SS, Rajan V, et al. Copy-number variants in clinical genome sequencing: Deployment and interpretation for rare and undiagnosed disease.[J]. Genet Med, 2019, 21(5):1121-1130.
doi: 10.1038/s41436-018-0295-y
URL
|
| [15] |
Liang D, Peng Y, Lv W, et al. Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes[J]. J Mol Diagn, 2014, 16(5):519-526.
doi: 10.1016/j.jmoldx.2014.05.002
URL
|
| [16] |
Michelson DJ, Clark RD. Optimizing genetic diagnosis of neurodevelopmental disorders in the clinical setting[J]. Clin Lab Med, 2020, 40(3):231-256.
doi: S0272-2712(20)30033-0
pmid: 32718497
|
| [17] |
Bass N, Skuse D. Genetic testing in children and adolescents with intellectual disability[J]. Curr Opin Psychiatry, 2018, 31(6):490-495.
doi: 10.1097/YCO.0000000000000456
URL
|
| [18] |
Li J, Gao K, Yan H, et al. Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation[J]. Gene, 2019, 700:168-175.
doi: 10.1016/j.gene.2019.03.037
URL
|
| [19] |
Clark MM, Stark Z, Farnaes L, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases[J]. NPJ Genom Med, 2018, 3:16.
doi: 10.1038/s41525-018-0053-8
URL
|
| [20] |
中华医学会医学遗传学分会临床遗传学组, 中国医师协会医学遗传医师分会遗传病产前诊断专业委员会, 中华预防医学会出生缺陷预防和控制专业委员会遗传病防控学组. 低深度全基因组测序技术在产前诊断中的应用专家共识[J]. 中华医学遗传学杂志, 2019, 36(4):293-296.
|
| [21] |
Nambot S, Thevenon J, Kuentz P, et al. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: Substantial interest of prospective annual reanalysis[J]. Genet Med, 2018, 20(6):645-654.
doi: 10.1038/gim.2017.162
URL
|
| [22] |
Bruel AL, Vitobello A, Tran Mau-Them F, et al. Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability[J]. Clin Genet, 2020, 98(5):433-444.
doi: 10.1111/cge.v98.5
URL
|
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