
Last Posted: Mar 25, 2021
- Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt Suzanne C E H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 - First French study relative to preconception genetic testing: 1500 general population participants' opinion.
Bonneau Valérie et al. Orphanet journal of rare diseases 2021 16(1) 130 - A single NGS based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Nallamilli Babi R R et al. Human mutation 2021 - Discordant Patient and Clinician Perspectives on the Potential Value of Genetic Services in Safety-Net Clinics.
McMullen Carmit et al. Journal of health care for the poor and underserved 2020 31(3) 1347-1363 - Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) patients in India.
Pathak Pankaj et al. Journal of neuromuscular diseases 2020 Dec - Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty Samya et al. Frontiers in neurology 2020 11559327 - Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis.
Beard Vivienne K et al. CMAJ open 8(4) E637-E642 - Reproductive Male Partner Testing When The Female Is Identified To Be A Genetic Disease Carrier.
Simone Laurie et al. Prenatal diagnosis 2020 Sep - Diagnostic Testing for Patients with Spinal Muscular Atrophy.
Brandsema John F et al. Clinics in laboratory medicine 2020 Sep 40(3) 357-367 - Evaluating the impact of universal Lynch syndrome screening in a publicly funded healthcare system.
Lee Petra W C et al. Cancer medicine 2020 Jul
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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Oct 1, 2020
- Page last updated:Apr 26, 2021
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