Heidi Cope

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

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

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

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

Novel approaches to quantify CNS involvement in children with Pompe disease

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia

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

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

Anencephaly: Insights for genetic counseling

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant

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

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

Characteristics of undiagnosed diseases network applicants: Implications for referring providers

Psychosocial profiles of parents of children with undiagnosed diseases: Managing well or just managing?

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

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

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy

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