Heidi Cope

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

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

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

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

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

Endocannabinoid dysfunction in neurological disease: Neuro-ocular DAGLA-related syndrome (NODRS)

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)

Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

Stankiewicz-Isidor syndrome: Expanding the clinical and molecular phenotype

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey