A New Edition of Genetics in Medicine Is Now Available

March 18, 2021

Genetics in Medicine (vol. 22, no. 1, 2020) is available online by subscription only.

Articles include:

  • “Who’s on Third? Regulation of Third-Party Genetic Interpretation Services” by Christi J. Guerrini, Jennifer K. Wagner and Amy L. McGuire
  • “Cancer Risks by Gene, Age, and Gender in 6350 Carriers of Pathogenic Mismatch Repair Variants: Findings from the Prospective Lynch Syndrome Database” by Mev Dominguez-Valentin, Julian R. Sampson and Pål Møller
  • “Thyroid Hormone and Folinic Acid in Young Children with Down Syndrome: The Phase 3 ACTHYF Trial” by Clotilde Mircher, Silvia Sacco and Franck G. Sturtz
  • “Genomic Knowledge in the Context of Diagnostic Exome Sequencing: Changes over Time, Persistent Subgroup Differences, and Associations with Psychological Sequencing Outcomes” by Christine Rini, Gail E. Henderson and Myra I. Roche
  • “Using the Delphi Method to Identify Clinicians’ Perceived Importance of Pediatric Exome Sequencing Results” by Hadley Stevens Smith, Heidi V. Russell and Stephanie R. Morain
  • “The Complete Costs of Genome Sequencing: A Microcosting Study in cancer and Rare Diseases from a Single Center in the United Kingdom” by Katharina Schwarze, James Buchanan and Sarah Wordsworth
  • “A Genetic Model for Multimorbidity in Young Adults” by Sarah L. Malecki, Spencer Van Mil and Anne S. Bassett
  • “Nonrandom Occurrence of Multiple De Novo Coding Variants in a Proband Indicates the Existence of an Oligogenic Model in Autism” by Yaoqiang Du, Zhongshan Li and Jinyu Wu
  • “Immunopathological Manifestations in Kabuki Syndrome: A Registry Study of 177 Individuals” by Henri Margot, Guilaine Boursier and David Geneviève
  • “The Natural History of Infantile Mitochondrial DNA Depletion Syndrome due to RRM2B Deficiency” by Nandaki Keshavan, Jose Abdenur and Shamima Rahman
  • “The Changing Face of Clinical Genetics Service Delivery in the Era of Genomics: A Framework for Monitoring Service Delivery and Data from a Comprehensive Metropolitan General Genetics Service” by Andrew Paul Fennell, Matthew Frank Hunter and Gregory Philip Corboy
  • “Developing Interactions with Industry in Rare Diseases: Lessons Learned and Continuing Challenges” by Susan A. Berry, Curtis R. Coughlin II and Cynthia LeMons

 

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Posted in Clinical / Medical, Education, Genetic Ethics, Global Bioethics, Healthcare, Informed Consent, Journal Articles, Pediatric, Pharma, Public Health, Public Policy

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