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.

Articles include:

  • “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.