Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01336-6.pdf
Reference30 articles.
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3. Pertile MD, Halks-Miller M, Flowers N, Barbacioru C, Kinnings SL, Vavrek D, et al. Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Sci Transl Med. 2017;9:eaan1240.
4. Van Opstal D, Van Maarle MC, Lichtenbelt K, Weiss MM, Schuring-Blom H, Bhola SL, et al. Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: Results of the TRIDENT study. Genet Med. 2018;20:480–5.
5. van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, et al. TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands. Am J Hum Genet. 2019;105:1091–101.
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