A New Edition of Genetics in Medicine Is Now Available

July 2, 2021

Genetics in Medicine (vol. 22, no. 9, 2020) is available online by subscription only.

Articles include:

• “Frequency of Genomic Secondary Findings among 21,915 eMERGE Network Participants” by Adam S. Gordon, et al.
• “Sequential Targeted Exome Sequencing of 1001 Patients Affected by Unexplained Limb-Girdle Weakness” by Ana Töpf, et al.
• “TSC2 Pathogenic Variants are Predictive of Severe Clinical Manifestations in TSC Infants: Results of the EPISTOP Study” by Barbara Ogórek, et al.
• “SMAD6 Variants in Craniosynostosis: Genotype and Phenotype Evaluation” by Eduardo Calpena, et al.
• “How can Australia Integrate Routine Genetic Sequencing in Oncology: A Qualitative Study through an Implementation Science Lens” by Rosie O’Shea, et al.
• “Diagnosing Hereditary Cancer Predisposition in Men with Prostate Cancer” by Mary Pritzlaff, et al.
• “Disease Expression in Juvenile Polyposis Syndrome: A Retrospective Survey on a Cohort of 221 European Patients and Comparison with a Literature-Derived Cohort of 473 SMAD4/BMPR1A Pathogenic Variant Carriers” by Robert Blatter, et al.
• “Genetic, Structural, and Functional Characterization of POLE Polymerase Proofreading Variants allows Cancer Risk Prediction” by Nadim Hamzaoui, et al.
• “Morbidity in 47,XYY Syndrome: A Nationwide Epidemiological Study of Hospital Diagnoses and Medication Use” by Agnethe Berglund, et al.
• “Returning Genomic Results in a Federally Qualified Health Center: The Intersection of Precision Medicine and Social Determinants of Health” by Gabriel Q. Shaibi, et al.