Heidi Cope

RTI uses cookies to offer you the best experience online. By clicking “accept” on this website, you opt in and you agree to the use of cookies. If you would like to know more about how RTI uses cookies and how to manage them please view our Privacy Policy here. You can “opt out” or change your mind by visiting: http://optout.aboutads.info/. Click “accept” to agree.

Search Results

Filter by Type

Filter by Year

Filter by Focus Area

Filter by Solution

Filter by Center

Search Results

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

Three Babies with Spinal Muscular Atrophy Have Bright Futures Thanks in Part to North Carolina’s Early Check Program

Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

Search Results

Filter by Type

Filter by Year

Filter by Focus Area

Filter by Solution

Filter by Center

Search Results

Heidi Cope

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

Three Babies with Spinal Muscular Atrophy Have Bright Futures Thanks in Part to North Carolina’s Early Check Program

Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

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