Last Posted: Jun-07-2019 1PM
Last Posted: Jun 05, 2019
- Carrier screening for recessive disorders.
Antonarakis Stylianos E et al. Nature reviews. Genetics 2019 May - Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Beauchamp Kyle A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Apr - Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey Erin L et al. The Journal of molecular diagnostics : JMD 2019 Apr - Values and value conflicts in implementation and use of preconception expanded carrier screening - an expert interview study.
Matar Amal et al. BMC medical ethics 2019 Apr 20(1) 25 - Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results.
Artin Michael G et al. Annals of internal medicine 2019 Apr - Carrier screening for spinal muscular atrophy with a simple test based on melting analysis.
Xia Zhongmin et al. Journal of human genetics 2019 May 64(5) 387-396 - Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model.
Kozareva Velina et al. BMC medical genomics 2018 Oct 11(1) 91 - User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.
Josephi-Taylor Sarah et al. Journal of genetic counseling 2019 Apr 28(2) 240-250 - Expanded Preconception Carrier Screening in Clinical Practice: Review of Technology, Guidelines, Implementation Challenges, and Ethical Quandaries.
Zhang Ting et al. Clinical obstetrics and gynecology 2019 Mar - Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening.
Boardman Felicity K et al. Molecular genetics & genomic medicine 2019 Mar e618
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