Genomics/Epigenomics

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

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

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

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

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

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

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

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

DSTYK Variant Cause Vertebral Malformations and Congenital Scoliosis

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

Epigenetic Age Acceleration in Adolescents after Individual and Neighborhood Adverse Exposures

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

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

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

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

Genomics/Epigenomics 1

Genomics/Epigenomics 2

Genomics/Epigenomics Trainee Ongoing Projects

How Variants of Uncertain Significance Impact Clinical Care

Identification of Histone and Expression Quantitative Trait Loci in CD4+ T cells on Juvenile Arthritis Genetic Risk Haplotypes

Muscle-proteomic analysis of muscle biopsies of cerebral palsy patients

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

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

Parent- and Clinician-Reported Utility for Neonatal Genomic Testing

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

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

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

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

Seq4NICUs: Universal Rapid Genome Sequencing for NICU Infants

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

Single Cell Transcriptomic Profiling of Skeletal Muscle in Spastic Cerebral Palsy

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

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