A New Edition of Genetics in Medicine Is Now Available

March 22, 2021

Genetics in Medicine (vol. 22, no. 2, 2020) is available online by subscription only.

Articles include:

  • “Therapeutic Approaches in Congenital Disorders of Glycosylation (CDG) Involving N-Linked Glycosylation: An Update” by Jan Verheijen, Shawn Tahata and Eva Morava
  • “Perspectives of US Private Payers on Insurance Coverage for Pediatric and Prenatal Exome Sequencing: Results of a Study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)” by Julia R. Trosman, Christine B. Weldon and Kathryn A. Phillips
  • “The Cost Trajectory of the Diagnostic Care Pathway for Children with Suspected Genetic Disorders” by Nick Dragojlovic, Clara D. M. van Karnebeek and Larry D. Lynd
  • “Inferring Fetal Fractions from Read Heterozygosity Empowers the Noninvasive Prenatal Screening” by Minghao Dang, Hanli Xu and Yongtao Guan
  • “Outcomes in Pregnancies with a Confined Placental Mosaicism and Implications for Prenatal Screening Using Cell-Free DNA” by Francesca Romana Grati, Jose Ferreira and Federico Prefumo
  • “Detection of Iron Deficiency in Children with Down Syndrome” by Sarah J. Hart, Kanecia Zimmerman and Priya S. Kishnani
  • “Pathogenic Variants in CDC45 on the Remaining Allele in Patients with a Chromosome 22q11.2 Deletion Result in a Novel Autosomal Recessive Condition” by Marta Unolt, Molka Kammoun and Donna McDonald-McGinn
  • “Adapting ACMG/AMP Sequence Variant Classification Guidelines for Single-Gene Copy Number Variants” by Tracy Brandt, Laura M. Sack and Jeanne M. Meck
  • “Psychiatric Genomics Researchers’ Perspectives on Best Practices for Returning Results to Individual Participants” by Kristin Kostick, Stacey Pereira and Gabriel Lázaro-Muñoz
  • “Creating Genetic Reports that are Understood by Nonspecialists: A Case Study” by Gabriel Recchia, Antonia Chiappi and Alexandra L. J. Freeman
  • “AVADA: Toward Automated Pathogenic Variant Evidence Retrieval Directly from the Full-Text Literature” by Johannes Birgmeier, Cole A. Deisseroth and Gill Bejerano
  • “The Genomics Research and Innovation Network: Creating an Interoperable, Federated, Genomics Learning System” by Kenneth D. Mandl, Tracy Glauser and Yu Zhang
  • “Regional Models of Genetic Services in the United States” by Celia Kaye, Joann Bodurtha and Matthew Taylor
  • “The CHD4-Related Syndrome: A Comprehensive Investigation of the Clinical Spectrum, Genotype–Phenotype Correlations, and Molecular Basis” by Karin Weiss, Hayley P. Lazar and Katherine Lachlan
  • “Breast Cancer in Neurofibromatosis 1: Survival and Risk of Contralateral Breast Cancer in a Five Country Cohort Study” by D. Gareth R. Evans, Roope A. Kallionpää and Juha Peltonen
  • “A Clinical Guide to Hereditary Cancer Panel Testing: Evaluation of Gene-Specific Cancer Associations and Sensitivity of Genetic Testing Criteria in a Cohort of 165,000 High-Risk Patients” by Holly LaDuca, Eric C. Polley and Jill S. Dolinsky
  • “Parents of Newborns in the NICU Enrolled in Genome Sequencing Research: Hopeful, but not Naïve” by Courtney Berrios, Catherine Koertje and John Lantos

 

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