Genomics/Epigenomics

Genomics/Epigenomics 1

Genomics/Epigenomics 2

Genomics/Epigenomics Trainee Ongoing Projects

TOP 12 - Epigenetic Signatures of Neonatal Stress: Linking NICU Stress Exposure to DNA Methylation

593 - Placental DNA methylation differences in stress response and neurologic genes in opioid-exposed versus non-exposed pregnancies

608 - How Variants of Uncertain Significance Impact Clinical Care

602 - Genomic Insights into Congenital Portosystemic Shunt: Enrichment of Variants in Cilia-Related Genes

617 - Seq4NICUs: Universal Rapid Genome Sequencing for NICU Infants

603 - Deficiency of kdm1a induces locomotor abnormalities and learning and memory deficits in zebrafish larvae

618 - Reduced Healthcare Costs Following Exome or Genome Sequencing in Pediatric Epilepsy: a SAVES-Kids Study

604 - A combined approach using digital PCR and flow cytometry for accurate diagnosis of p47phox-deficient chronic granulomatous disease

619 - Adverse Childhood Experiences Reported at Well-Child Visits and Transcriptional Response

606 - Transcription Drives H1 Linker Histone Depletion in the Promoters of Murine Erythroid Cells.

621 - Evaluating Genomic Knowledge and Decision-Making in Youth and their Parents

607 - RNA Sequencing of Wharton’s Jelly-derived Mesenchymal Stem Cells (MSCs) from Full-Term Healthy and Gestational Diabetes Pregnancies

622 - Accelerating pediatric genomic research via a state-of-the-art biospecimen collection model for the Developmental Genotype Tissue Expression Project

594 - Association of placental DNA methylation in stress-related and opioid receptor genes with neonatal opioid withdrawal syndrome severity

609 - Parent- and Clinician-Reported Utility for Neonatal Genomic Testing

595 - Sex-Specific DNA Methylation of Neurodevelopmental, Stress-Response and Reward Pathway Genes Associated with Need for Pharmacological Treatment in Opioid-Exposed Newborns

610 - Neonatal Epigenetics and Trajectories of Attention Problems in Children Born Very Preterm

596 - Umbilical cord miRNA to understand accelerated growth in opioid-exposed neonates: A pilot study

611 - National Multidisciplinary Survey of Genetic Testing Practices for Congenital Diaphragmatic Hernia within the Children’s Hospitals Neonatal Consortium

597 - DSTYK Variant Cause Vertebral Malformations and Congenital Scoliosis

612 - AI-assisted variant scoring to improve diagnosis of rare genetic diseases

598 - Single Cell Transcriptomic Profiling of Skeletal Muscle in Spastic Cerebral Palsy

613 - Reduced Healthcare Resource Utilization and Costs Following Exome or Genome Sequencing in Pediatric Neurodevelopmental Disorders: a SAVES-Kids Study

599 - Muscle-proteomic analysis of muscle biopsies of cerebral palsy patients

614 - Epigenetic Age Acceleration in Adolescents after Individual and Neighborhood Adverse Exposures

600 - Direct circRNA Interactome Mapping: Amplification-Based Proteomics in Spastic Cerebral Palsy

615 - De novo variants in KIF26B, encoding kinesin family member 26B, are associated with neurological disorders

601 - Efficacy of DNM2 Reduction and Mesenchymal Stem Cell-Derived Extracellular Vesicles in SPEG Deficiency

616 - Gene List Development for the BEACONS study: The First U.S. Multi-State Genomic Newborn Screening Initiative