Heidi Cope

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A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early check implementation

Clinician perspectives of gene therapy as a treatment option for Duchenne muscular dystrophy

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation

Two years of newborn screening for Duchenne Muscular Dystrophy as a part of the statewide Early Check research program in North Carolina

Age of diagnosis for children with chromosome 15q syndromes

NBSTRN Tools to advance newborn screening research and support newborn screening stakeholders

Best-worst scaling analysis of priorities for participation in gene therapy clinical trials for Duchenne muscular dystrophy

Risk tolerance of caregivers of individuals with Duchenne muscular dystrophy for gene therapy

A humanized Caenorhabditis elegans model of Hereditary Spastic Paraplegia associated variants in kinesin light chain KLC4

Use of a web-based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina:: Results from Early Check*

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Adults with lysosomal storage diseases in the undiagnosed diseases network

Education and consent for population-based DNA screening: A mixed-methods evaluation of the Early Check Newborn Screening Pilot Study

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

Parent attitudes and perceptions after receiving Fragile X premutation results in the Early Check Newborn Screening Pilot Study (eP300)