A New Edition of Genetics in Medicine Is Now Available

June 16, 2021

Genetics in Medicine (vol. 22, no. 8, 2020) is available online by subscription only.

Articles include:

  • “Implementation of Population-Based Newborn Screening Reveals Low Incidence of Spinal Muscular Atrophy” by Denise M. Kay, et al. 
  • “Exome Sequencing Compared with Standard Genetic Tests for Critically Ill Infants with Suspected Genetic Conditions” by Hadley Stevens Smith, et al.
  • “The Personal Utility and Uptake of Genomic Sequencing in Pediatric and Adult Conditions: Eliciting Societal Preferences with three Discrete Choice Experiments” by Ilias Goranitis, et al.
  • “Clinical Experience with Carrier Screening in a General Population: Support for a Comprehensive Pan-Ethnic Approach” by Maggie Westemeyer, et al.
  • “DLG2 Variants in Patients with Pubertal Disorders” by Youn Hee Jee, et al.
  • “Further Delineation of the Clinical Spectrum of KAT6B Disorders and Allelic Series of Pathogenic Variants” by Li Xin Zhang, et al.
  • “Positive Impact of Genetic Counseling Assistants on Genetic Counseling Efficiency, Patient Volume, and Cost in a Cancer Genetics Clinic” by Miranda L. G. Hallquist, et al.
  • “Alternative mRNA Splicing can Attenuate the Pathogenicity of Presumed Loss-of-Function Variants in BRCA2” by Romy L. S. Mesman, et al.
  • “Plasma Cell-Free DNA Variant Analysis Compared with Methylated DNA Analysis in Renal Cell Carcinoma” by Kathryn Lasseter, et al.
  • “Matching Clinical and Genetic Diagnoses in Autosomal Dominant Polycystic Kidney Disease Reveals Novel Phenocopies and Potential Candidate Genes” by Ria Schönauer, et al.
  • “The Leadership Behaviors Needed to Implement Clinical Genomics at Scale: A Qualitative Study” by Stephanie Best, et al.