Clinical genetics and therapeutics

319 - The Use and Potential Impact of Diversity Measures in Medical Genetics Practice: Results of a Survey of Clinical Genomics Professionals

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318 - Novel EIF2S3 Missense Mutation in a Large Family with MEHMO Syndrome

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329 - Development of concurrent pre-implantation genetic testing for single gene disorders and aneuploidy screening from a single trophectoderm (TE) biopsy using targeted next generation sequencing (NGS)
330 - Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series
331 - Cardiomyopathy in children with mitochondrial disease: prognosis and genetic background
332 - Genetic Testing in an Unselected HCM Cohort: A Descriptive Overview
334 - Migalastat Reduces Globotriaosylceramide (GL-3) Inclusions in Renal Peritubular Capillaries in Patients With Fabry Disease: Post hoc Analyses from FACETS
337 - Compound Heterozygous Variants in IL6ST Associated with Immunodeficiency and GP130 Deficiency
338 - Primrose Syndrome: Characterizing the Pediatric Phenotype
339 - Clinical Diagnostic Exome Sequencing in Patients with Neuromuscular Disorders: Genetic Testing Challenges for Complex Conditions
345 - PGxTyper - A Computational Workflow to Automate the Identification and Annotation of Clinically Actionable PGx Variants  
346 - Overcoming the “N of 1” Problem: Novel Disease Gene Discovery in the Undiagnosed Diseases Network