A New Edition of Genetics in Medicine Is Now Available
June 8, 2021
Genetics in Medicine (vol. 22, no. 7, 2020) is available online by subscription only.
- “Mapping RNA Splicing Variations in Clinically Accessible and Nonaccessible Tissues to Facilitate Mendelian Disease Diagnosis Using RNA-Seq” by Joseph K. Aicher, et al.
- “Electronic Health Record Phenotypes Associated with Genetically Regulated Expression of CFTR and Application to Cystic Fibrosis” by Xue Zhong, et al.
- “The Prevalence of Genetic Diagnoses in Fetuses with Severe Congenital Heart Defects” by Amber E. L. van Nisselrooij, et al.
- “Phenotypic Spectrum and Transcriptomic Profile Associated with Germline Variants in TRAF7” by Laura Castilla-Vallmanya, et al.
- “Resolving the Dark Matter of ABCA4 for 1054 Stargardt Disease Probands through Integrated Genomics and Transcriptomics” by Mubeen Khan, et al.
- “The Landscape of Pharmacogenetic Testing in a US Managed Care Population” by Heather D. Anderson, et al.
- “The Diagnostic Utility of Genome Sequencing in a Pediatric Cohort with Suspected Mitochondrial Disease” by Lisa G. Riley, et al.
- “A Highly Multiplexed Biochemical Assay for Analytes in Dried Blood Spots: Application to Newborn Screening and Diagnosis of Lysosomal Storage Disorders and Other Inborn Errors of Metabolism” by Xinying Hong, Martin Sadilek and Michael H. Gelb
- “Alternative Transcripts in Variant Interpretation: The Potential for Missed Diagnoses and Misdiagnoses” by Kelly Schoch, et al.