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Author Details

Heidi Cope
GenOmics and Translational Research Center
2002
40
16
PMIDPaper TitleJournal TitlePublished Year
36481303A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.Genet Med2023
37987476NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.Int J Neonatal Screen2023
37191094Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.Genet Med2023
36718090SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.Brain2023
36826837Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.Am J Med Genet A2023
34115423Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.J Genet Couns2022
35737950Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.Brain2022
35646095Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study.Front Genet2022
35848209Adults with lysosomal storage diseases in the undiagnosed diseases network.Mol Genet Genomic Med2022
34906456Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.Genet Med2022
35108495Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.Am J Hum Genet2022
33944996Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.Hum Genet2021
33508234De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.Am J Hum Genet2021
33955715Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.Mol Genet Genomic Med2021
34314705TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.Am J Hum Genet2021
32518148Novel approaches to quantify CNS involvement in children with Pompe disease.Neurology2020
32730690Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.Mol Genet Genomic Med2020
30514889ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.Genet Med2019
29907797A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.Genet Med2019
31448412The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.Clin Genet2019
30655185Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13⿯T⿯>⿯G variant.Mol Genet Metab2019
29289479Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.Mol Genet Metab2018
33052113Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions.J Particip Med2018
30134969Characteristics of undiagnosed diseases network applicants: implications for referring providers.BMC Health Serv Res2018
29970384Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.Cold Spring Harb Mol Case Stud2018
29627187Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.J Pediatr2018
29297108Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?J Genet Couns2018
28702360Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.Mol Genet Metab Rep2017
26603137Diet-Induced Obesity Enhances Progression of Hepatocellular Carcinoma through Tenascin-C/Toll-Like Receptor 4 Signaling.Am J Pathol2016
25609184Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.BMC Genomics2015
25869670TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.J Cell Biol2015
25872901Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome.Prenat Diagn2015
24359474Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation.Ann Hum Genet2014
25044326Missing genetic risk in neural tube defects: can exome sequencing yield an insight?Birth Defects Res A Clin Mol Teratol2014
24962150Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics.BMC Med Genomics2014
23769483Outcome and life satisfaction of adults with myelomeningocele.Disabil Health J2013
24323870Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype.Birth Defects Res B Dev Reprod Toxicol2013
23620759Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.PLoS One2013
17003809SLITRK1 mutations in trichotillomania.Mol Psychiatry2006
11875756Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.Am J Hum Genet2002
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Collaborators

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Duke University Medical Center
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Yale University School of Medicine
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University of North Carolina-Chapel Hill
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Brigham and Women's Hospital, Harvard Medical School
Co-authored papers 4
Northwestern University
Co-authored papers 2
Stanford University
Co-authored papers 2
Boston Children's Hospital
Co-authored papers 2
Stanford University School of Medicine
Co-authored papers 2
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Stanford Center for Undiagnosed Diseases
Co-authored papers 2
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Baylor College of Medicine
Co-authored papers 2
Institute for Genomic Medicine, Columbia University Irving Medical Center
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University of California, Rady Children's Hospital San Diego
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Duke University Medical Center
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Mayo Clinic College of Medicine and Science
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Harvard Medical School
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