Heidi Cope

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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

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

Stankiewicz-Isidor syndrome: Expanding the clinical and molecular phenotype

Screening Aimed to Advance Public Health Outcomes for Newborns

Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome

Early Check study to use genome sequencing to dramatically expand voluntary screening offered for North Carolina newborns

Anencephaly: Insights for genetic counseling

Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates

Reduction by naloxone of lipopolysaccharide-induced neurotoxicity in mouse cortical neuron-glia co-cultures

Severe cardiac involvement is rare in patients with late-onset Pompe disease and the common c.-32-13T > G variant: Implications for newborn screening

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

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

Adults with lysosomal storage diseases in the undiagnosed diseases network

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

Age of diagnosis for children with chromosome 15q syndromes

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

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features

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

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Heidi Cope

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

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

Stankiewicz-Isidor syndrome: Expanding the clinical and molecular phenotype

Screening Aimed to Advance Public Health Outcomes for Newborns

Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome

Early Check study to use genome sequencing to dramatically expand voluntary screening offered for North Carolina newborns

Anencephaly: Insights for genetic counseling

Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates

Reduction by naloxone of lipopolysaccharide-induced neurotoxicity in mouse cortical neuron-glia co-cultures

Severe cardiac involvement is rare in patients with late-onset Pompe disease and the common c.-32-13T &gt; G variant: Implications for newborn screening

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

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

Adults with lysosomal storage diseases in the undiagnosed diseases network

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

Age of diagnosis for children with chromosome 15q syndromes

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

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features

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

Severe cardiac involvement is rare in patients with late-onset Pompe disease and the common c.-32-13T > G variant: Implications for newborn screening