Identification of MECP2 Duplication Using Low-Depth Whole-Genome Sequencing-Based Copy Number Variation Analysis

참고문헌 (18)

1. Miller DT, "Consensus statement : chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies", Am J Hum Genet, 86, pp.749~764 (2010)
2. 이진숙, "Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability", Annals of Laboratory Medicine, 38(5), pp.473~480 (2018), 대한진단검사의학회[DOI]
3. Zhao M, "Computational tools for copy number variation(CNV)detection using next-generation sequencing data : features and perspectives", BMC Bioinformatics, 14, pp.S1~ (2013)
4. Martin-Rodriguez S, "Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb : Utility of targeted next-generation sequencing in detection of copy number variation", Ann Hum Genet, 83, pp.266~273 (2019)
5. Jiao Q, "The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders", Clin Genet, 96, pp.140~150 (2019)
6. Berberich AJ, "Copy number variation in GCK in patients with maturity-onset diabetes of the young", J Clin Endocrinol Metab, 104, pp.3428~3436 (2019)
7. Dong Z, "Copy-number variants detection by low-pass whole-genome sequencing", Curr Protoc Hum Genet, 94 (2017)
8. Dong Z, "Low-pass whole-genome sequencing in clinical cytogenetics : a validated approach", Genet Med, 18, pp.940~948 (2016)
9. Venkatraman ES, "A faster circular binary segmentation algorithm for the analysis of array CGH data", Bioinformatics, 23, pp.657~663 (2007)
10. Ramocki MB, "The MECP2 duplication syndrome", Am J Med Genet A, 152A, pp.1079~1088 (2010)
11. Gonzales ML, "The role of MECP2 in brain development and neurodevelopmental disorders", Curr Psychiatry Rep, 12, pp.127~134 (2010)
12. Clayton-Smith J, "Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance", Eur J Hum Genet, 17, pp.434~443 (2009)
13. Yon DK, "A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes", BMC Med Genet, 18, pp.30~ (2017)
14. Pabinger S, "A survey of tools for variant analysis of next-generation genome sequencing data", Brief Bioinform, 15, pp.256~278 (2014)
15. Yin AH, "Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA", Proc Natl Acad Sci U S A, 112, pp.14670~14675 (2015)
16. Lo KK, "Limited clinical utility of non-invasive prenatal testing for subchromosomal abnormalities", Am J Hum Genet, 98, pp.34~44 (2016)
17. Shevell M, "Practice parameter : evaluation of the child with global developmental delay : report of the quality standards subcommittee of the American Academy of Neurology and the practice committee of the Child Neurology Society", Neurology, 60, pp.367~380 (2003)
18. Flore LA, "Updates in the genetic evaluation of the child with global developmental delay or intellectual disability", Semin Pediatr Neurol, 19, pp.173~180 (2012)

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