A New Edition of Genetics in Medicine Is Now Available

April 12, 2021

Genetics in Medicine (vol. 22, no. 4, 2020) is available online by subscription only.

Articles include:

  • “Classification of Variants of Uncertain Significance in BRCA1 and BRCA2 using Personal and Family History of Cancer from Individuals in a Large Hereditary Cancer Multigene Panel Testing Cohort” by Hongyan Li, Holly LaDuca and David E. Goldgar
  • “Prevalence of Pathogenic Germline Cancer Risk Variants in High-Risk Urothelial Carcinoma” by Amin H. Nassar, Sarah Abou Alaiwi and Guru Sonpavde
  • “Assessing Relatives’ Readiness for Hereditary Cancer Cascade Genetic Testing” by Erica M. Bednar, Charlotte C. Sun and Sally W. Vernon
  • “Effectiveness of the Genomics ADvISER Decision Aid for the Selection of Secondary Findings from Genomic Sequencing: A Randomized Clinical Trial” by Yvonne Bombard, Marc Clausen and Kevin E. Thorpe
  • “Prospective, Phenotype-Driven Selection of Critically Ill Neonates for Rapid Exome Sequencing is Associated with High Diagnostic Yield” by Cynthia S. Gubbels, Grace E. VanNoy and Timothy W. Yu
  • “Clinical Utility of Genetic Testing in 201 Preschool Children with Inherited Eye Disorders” by Eva Lenassi, Jill Clayton-Smith and Panagiotis I. Sergouniotis
  • “Parents’ Perceptions of Personal Utility of Exome Sequencing Results” by Lonna Mollison, Julianne M. O’Daniel and Debra Skinner
  • “Clustering of Comorbid Conditions among Women who Carry an FMR1 Premutation” by Emily Graves Allen, Krista Charen and Stephanie L. Sherman
  • “Unexplained Regression in Down Syndrome: 35 Cases from an International Down Dyndrome Database” by Stephanie L. Santoro, Sheila Cannon and Brian G. Skotko
  • “Assessment of Laboratories Offering Cell-Free (cf) DNA Screening for Down Syndrome: Results of the 2018 College of American Pathology External Educational Exercises” by Glenn E. Palomaki, Philip Wyatt and John A. Thorson
  • “Variant Interpretation is a Component of Clinical Practice among Genetic Counselors in Multiple Specialties” by Karen E. Wain, Danielle R. Azzariti and Christa Lese Martin