A New Edition of Genetics in Medicine Is Now Available
June 2, 2021
Genetics in Medicine (vol. 22, no. 5, 2020) is available online by subscription only.
- “Systematic Misclassification of Missense Variants in BRCA1 and BRCA2 ‘Coldspots'” by Jennifer N. Dines, et al.
- “Cost-Effectiveness of Long-Term Clinical Management of BRCA Pathogenic Variant Carriers” by Lara Petelin, et al.
- “Two Integrated and Highly Predictive Functional Analysis-Based Procedures for the Classification of MSH6 Variants in Lynch Syndrome” by Mark Drost, et al.
- “Examination of the Genetic Factors Underlying the Cognitive Variability Associated with Neurofibromatosis Type 1” by Myrthe J. Ottenhoff, et al.
- “Diagnosing Cornelia de Lange Syndrome and Related Neurodevelopmental Disorders using RNA Sequencing” by Stefan Rentas, et al.
- “Noninvasive Prenatal Diagnosis by Genome-Wide Haplotyping of Cell-Free Plasma DNA” by Huiwen Che, et al.