Carrier screening for recessive disorders

Author:

Antonarakis Stylianos E.ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference91 articles.

1. Stamatoyannoulos, G. in Birth Defects: Proceedings of the Fourth International Conference (International Congress Series No. 310) (eds Motulsky, A. G. & Ebling, F. J. G.) 268–276 (Excerpta Medica, 1974). This report describes the first pioneer carrier screening.

2. Solomon, B. D., Nguyen, A. D., Bear, K. A. & Wolfsberg, T. G. Clinical genomic database. Proc. Natl Acad. Sci. USA 110, 9851–9855 (2013).

3. van der Hout, S., Dondorp, W. & de Wert, G. The aims of expanded universal carrier screening: autonomy, prevention, and responsible parenthood. Bioethics. https://doi.org/10.1111/bioe.12555 (2019).

4. Kraft, S. A., Duenas, D., Wilfond, B. S. & Goddard, K. A. B. The evolving landscape of expanded carrier screening: challenges and opportunities. Genet. Med. 21, 790–797 (2019).

5. Baird, P. A., Anderson, T. W., Newcombe, H. B. & Lowry, R. B. Genetic disorders in children and young adults: a population study. Am. J. Hum. Genet. 42, 677–693 (1988).

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