Pediatri Nöroloji Pratiğinde Genetik Testlerin Kullanımı ve Yeni Teknolojiler

Nussbaum RL, Mclnnes RR, Willard HF (eds): Principles of clinical cytogenetics and genome analysis Thompson & Thompson Genetics in Medicine, 8th ed, Canada, Elsevier, 2016, p:57-74
Miller DT1, 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. Am J Hum Genet. 2010 May 14;86(5):749-64.
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 Nov;23(11):2029-2037.
Srivastava S, Love-Nichols JA, Dies KA, et al; NDD Exome Scoping Review Work Group. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 Nov;21(11):2413-2421.
Dragojlovic N, Elliott AM, Adam S, et al. The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study. Genet Med. 2018 Sep;20(9):1013-1021.
Vissers LELM, van Nimwegen KJM, Schieving JH, et al. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017 Sep;19(9):1055-1063.
Mantere T, Neveling K, Pebrel-Richard C, et al. Optical genome mapping enables constitutional chromosomal aberration detection. Am J Hum Genet. 2021 Aug 5;108(8):1409-1422.
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 Dec 8;12(12):1958.