A New Edition of Genetics in Medicine Is Now Available
June 7, 2021
Genetics in Medicine (vol. 22, no. 6, 2020) is available online by subscription only.
- “Blood RNA Analysis can Increase Clinical Diagnostic Rate and Resolve Variants of Uncertain Significance” by Htoo A. Wai, et al.
- “The Cardiac Genome Clinic: Implementing Genome Sequencing in Pediatric Heart Disease” by Miriam S. Reuter, et al.
- “Initial Experience from a Renal Genetics Clinic Demonstrates a Distinct Role in Patient Management” by Christie P. Thomas, et al.
- “Re-Evaluating the First-Tier Status of Fragile X Testing in Neurodevelopmental Disorders” by Lauren A. Borch, et al.
- “Copy-Number Variation Contributes 9% of Pathogenicity in the Inherited Retinal Degenerations” by Erin Zampaglione, et al.
- “Disparities in BRCA Counseling across Providers in a Diverse Population of Young Breast Cancer Survivors” by Sonya Reid, et al.
- “Clinical and Biochemical Improvement with Galactose Supplementation in SLC35A2-CDG” by Peter Witters, et al.
- “The Critical Role of Psychosine in Screening, Diagnosis, and Monitoring of Krabbe Disease” by Adam J. Guenzel, et al.
- “Significant Mendelian Genetic Contribution to Pediatric Mild-to-Moderate Hearing Loss and its Comprehensive Diagnostic Approach” by Bong Jik Kim, et al.