A New Edition of European Journal of Human Genetics Is Now Available
May 20, 2021
European Journal of Human Genetics (vol. 28, no. 5, 2018) is available online by subscription only.
Articles include:
- “Evidence for Penetrance in Patients without a Family History of Disease: A Systematic Review” by Heather Turner and Leigh Jackson
- “Primary Care Provider Perspectives on Using Genomic Sequencing in the Care of Healthy Children” by Esha Joshi, et al.
- “Evaluation of Current Genetic Testing Reports in German-Speaking Countries with regard to Secondary Use and Future Electronic Implementation” by Teja Falk Radke, et al.
- “Methylated Premutation of the FMR1 Gene in Three Sisters: Correlating CGG Expansion and Epigenetic Inactivation” by Elisabetta Tabolacci, et al.
- “Diagnostic Yield of Panel-Based Genetic Testing in Syndromic Inherited Retinal Disease” by Omamah A. Jiman, et al.
- “Exome Sequencing in Infants with Congenital Hearing Impairment: A Population-Based Cohort Study” by Lilian Downie, et al.
- “Targeted Deep-Intronic Sequencing in a Cohort of Unexplained Cases of Suspected Lynch Syndrome” by Anke Marie Arnold, et al.
- “Dwarna: A Blockchain Solution for Dynamic Consent in Biobanking” by Nicholas Mamo, et al.
- “SweHLA: The High Confidence HLA Typing Bio-Resource Drawn from 1000 Swedish Genomes” by Jessika Nordin, et al.
- “The Paternal and Maternal Genetic History of Vietnamese Populations” by Enrico Macholdt, et al.
- “Searching for Parent-of-Origin Effects on Cardiometabolic Traits in Imprinted Genomic Regions” by Einat Granot-Hershkovitz, et al.
- “Mixed-Model Admixture Mapping Identifies Smoking-Dependent Loci of Lung Function in African Americans” by Andrey Ziyatdinov, et al.
