Last Posted: Nov 15, 2019
- Inborn Errors of Metabolism: From Preconception to Adulthood.
Kruszka Paul et al. American family physician 2019 99(1) 25-32 - Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines.
Johansen Taber Katherine et al. Molecular genetics & genomic medicine 2019 Nov e1024 - How does carrier status for recessive disorders influence reproductive decisions? A systematic review of the literature.
Cannon Jeffrey et al. Expert review of molecular diagnostics 2019 Nov - Expanded carrier screening: counseling and considerations.
Sparks Teresa N et al. Human genetics 2019 Nov - Fragile X syndrome carrier screening in pregnant women in Chinese Han population.
Hung Chia-Cheng et al. Scientific reports 2019 Oct 9(1) 15456 - Commentary: Expanded carrier screening: how much is too much?
Wapner Ronald J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(9) 1927-1930 - Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants.
Fridman Hila et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Oct - GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?
Schuurmans Juliette et al. European journal of human genetics : EJHG 2019 Sep - Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo Antonio et al. PLoS genetics 2019 Oct 15(10) e1008409 - Before the beginning: the genetic risk of a couple aiming to conceive.
Simpson Joe Leigh et al. Fertility and sterility 2019 Oct 112(4) 622-630
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