Last Posted: Aug 11, 2020
- 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
- Open communication of Duchenne muscular dystrophy facilitates disclosure process by parents to unaffected siblings.
Sulmonte Laura A G et al. Journal of genetic counseling 2020 Jul
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer Sabina et al. European journal of human genetics : EJHG 2020 Jul
- Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines
KE Kaseniit et al, Genetics in Medicine, June 29, 2020
- Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.
Bienvenu Thierry et al. Genes 2020 Jun 11(6)
- Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach
M Westemeyer et al, Genetics in Medicine, May 6, 2020
- Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature.
Van Steijvoort Eva et al. Human reproduction update 2020 Feb
- Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions
M Balzotti et al, MedRXIV, December 15, 2019
- Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.
Zhang Jingjing et al. BMC medical genetics 2019 Nov 20(1) 180
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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.