Unexplained Intellectual Disability: Diagnostic Workflow Moving Towards “Exome Sequencing First Approach”?
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s12098-024-05173-3.pdf
Reference7 articles.
1. Ko MH-J, Chen H-J. Genome-wide sequencing modalities for children with unexplained global developmental delay and intellectual disabilities—a narrative review. Children. 2023;10:501.
2. Tilemis F-N, Marinakis NM, Veltra D, et al. Germline CNV detection through whole-exome sequencing (WES) data analysis enhances resolution of rare genetic diseases. Genes (Basel). 2023;14:1490.
3. Dremsek P, Schwarz T, Weil B, Malashka A, Laccone F, Neesen J. Optical genome mapping in routine human genetic diagnostics-its advantages and limitations. Genes (Basel). 2021;12:1958.
4. Haghshenas S, Bhai P, Aref-Eshghi E, Sadikovic B. Diagnostic utility of genome-wide DNA methylation analysis in mendelian neurodevelopmental disorders. Int J Mol Sci. 2020;21:9303.
5. Manickam K, McClain MR, Demmer LA, et al. ACMG Board of Directors. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:2029–37.
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