A New Edition of Genetics in Medicine Is Now Available

January 20, 2022

Genetics in Medicine (vol. 23, no. 9, 2021) is available online by subscription only.

Articles include:

  • “Erythropoietic Protoporphyria: Time to Prodrome, the Warning Signal to Exit Sun Exposure without Pain—a Patient-Reported Outcome Efficacy measure” by D. Wensink, et al.
  • “Refining the Risk for Fragile X–associated Primary Ovarian Insufficiency (FXPOI) by FMR1 CGG Repeat Size” by Emily Graves Allen, et al.
  • “Paired-like Homeobox Gene (PHOX2B) Nonpolyalanine Repeat Expansion Mutations (NPARMs): Genotype–Phenotype Correlation in Congenital Central Hypoventilation Syndrome (CCHS)” by Amy Zhou, et al.
  • “Laboratory Business Models and Practices: Implications for Availability and Access to Germline Genetic Testing” by Maren T. Scheuner, et al.
  • “A Randomized Controlled Trial of Genetic Testing and Cascade Screening in Familial Hypercholesterolemia” by Ezimamaka Ajufo, et al.
  • “Reproductive Outcomes in Individuals with Chromosomal Reciprocal Translocations” by Angela Verdoni, et al.