A New Edition of Genetics in Medicine Is Now Available
July 9, 2021
Genetics in Medicine (vol. 22, no. 10, 2020) is available online by subscription only.
- “Classical-Like Ehlers–Danlos Syndrome: A Clinical Description of 20 Newly Identified Individuals with Evidence of Tissue Fragility” by Claire Green, et al.
- “Cardiac Involvement in Classical or Hypermobile Ehlers–Danlos Syndrome is Uncommon” by Sharon L. Paige, et al.
- “Expanding the Clinical and Genetic Spectrum of CAD Deficiency: An Epileptic Encephalopathy Treatable with Uridine Supplementation” by Daisy Rymen, et al.
- “Toward Newborn Screening of Cerebrotendinous Xanthomatosis: Results of a Biomarker Research Study using 32,000 Newborn Dried Blood Spots” by Xinying Hong, et al.
- “Polygenic Risk Scores and Breast and Epithelial Ovarian Cancer Risks for Carriers of BRCA1 and BRCA2 Pathogenic Variants” by Daniel R. Barnes, et al.
- “Ethical Conflicts in Translational Genetic Research: Lessons Learned from the eMERGE-III Experience” by Colin M. E. Halverson, et al.
- “Genetic Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Iimitations of Ethnicity-Based Medical Guidelines” by Kristjan E. Kaseniit, et al.
- “Teaching Clinicians Practical Genomic Medicine: 7 Years’ Experience in a Tertiary Care Center” by Rachel Michaelson-Cohen, et al.