Genomics/Epigenomics

Genomics/Epigenomics

Genomics/Epigenomics Works in Progress

363 - A Novel Study Assessing Pharmacogenetic Testing in Pediatric Patients with Chronic Pain

364 - Addressing inequity in rare disease genomics: preliminary findings from the Rare Genomes Project

366 - Effectiveness of Universal, First-tier Genome Sequencing for Critically Ill Infants on Extracorporeal Membrane Oxygenation

367 - Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion

368 - High number of candidate gene variants are identified as disease-causing in a period of four years

369 - Identification of Genetic Disorders based on Phenotype and Subsequent Medical Management

370 - Not just one: the utility of whole genome sequencing for making a dual molecular diagnosis

371 - Placental transcriptome analysis in opioid-exposed versus unexposed pregnancies

373 - Provider Perspectives on Genomic Care in Safety-Net Neonatal Intensive Care Units

374 - Rare Disease Narratives on Social Media

375 - The role of KHDC3 & small RNAs in the epigenetic inheritance of obesity & metabolic disease

376 - Validation of Machine-Learning Based Automatic Diagnostic Tests for Cerebral Palsy

WIP 152 - In Vivo Evaluation of Deleterious FAK (PTK2) Myelomeningocele Patient Variants In Xenopus Laevis

WIP 153 - Multimodal single-molecule genome and epigenome profiling in childhood-onset lupus