Updates in Clinical Genetics
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-031-41542-5_8
Reference11 articles.
1. Fresard L, et al. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Methods. 2019;25(6):911–9.
2. Friedmann T. A brief history of gene therapy. Nat Genet. 1992;2:93–8.
3. Kerkhof J, et al. DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies. Genet Med. 2022;24:51–60.
4. Miller DT, 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;86:749–64.
5. Posey JE, et al. Resolution of disease phenotypes resulting from multilocus genomic variation. N Engl J Med. 2017;376:21–31.
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