Clinical genetics and therapeutics

298 - The Majority of Index Patients with Vascular Ehlers-Danlos Syndrome Do not Have a Positive Family History  

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295 - Precision Medicine Advancements Using Whole Genome Sequencing, Noninvasive Whole Body Imaging, and Functional Diagnostics

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299 - Correlations between Glucosylsphingosine (Lyso-GL-1) and Disease Severity and Response to Oral Eliglustat in Treatment-Naïve Adults with Gaucher Disease Type 1
300 - Morquio A Syndrome: The Critical Role of ERT in Early Infancy
301 - Whole Exome Sequencing in Underserved and Underrepresented Minority Patients in the P3EGS Study at UCSF
302 - Growth Hormone Deficiency: Expanding the Phenotype of Potocki-Lupski syndrome
303 - Genetic Identification of Lysosomal Storage Disorders in a Multi-Ethnic Biobank
305 - CSNK2B: A Novel Cause of Neurodevelopmental Disease and Epilepsy
310 - The Importance of Assessing for Triploidy Beyond the First Trimester of Pregnancy
318 - Novel EIF2S3 Missense Mutation in a Large Family with MEHMO Syndrome
319 - The Use and Potential Impact of Diversity Measures in Medical Genetics Practice: Results of a Survey of Clinical Genomics Professionals
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)