Heidi Cope

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

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

Missing genetic risk in neural tube defects: Can exome sequencing yield an insight?

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

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

Immune modulatory effects of neural cell adhesion molecules on lipopolysaccharide-induced nitric oxide production by cultured glia

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Characteristics of undiagnosed diseases network applicants: Implications for referring providers

Participant-partners in genetic research: An exome study with families of children with unexplained medical conditions

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

SLITRK1 mutations in trichotillomania

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

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

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

High concentrations of extracellular potassium enhance bacterial endotoxin lipopolysaccharide-induced neurotoxicity in glia-neuron mixed cultures

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

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

Outcome and life satisfaction of adults with myelomeningocele

Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype

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