ArticleNeurology. Genetics2022
Genome Sequencing in the Parkinson Disease Clinic.
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
2.1field-weighted citation impact, top 11% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Effects of glucocerebrosidase gene variations on the risk of Parkinson's disease dementia: a meta-analysis.Frontiers in aging neuroscience · 2025Pooled it
- Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinson's disease.Brain : a journal of neurology · 2026Article
- Sources of Oxidative Stress in Parkinson's Disease: Pathways and Therapeutic Implications.Antioxidants (Basel, Switzerland) · 2026Review
- Expanding the Genome in a Bottle Truth Set: Detection and Validation of Novel Low-frequency Variants Using High-accuracy NanoSeq.bioRxiv : the preprint server for biology · 2025Article
- Barriers to clinical genetic testing in movement disorders.Current opinion in neurology · 2025Review
- Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family.Neurology. Genetics · 2025Article
- Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.Brain : a journal of neurology · 2024Observational
- Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson's disease progression.Scientific reports · 2024Article
- Delivering Genetic Test Results for Parkinson Disease: A Qualitative Approach to Provider Experiences in the PD GENEration Study.Neurology. Clinical practice · 2024Article
- Article
- Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.Journal of neurology · 2024Review
- Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Review
- International Genetic Testing and Counseling Practices for Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.NPJ Parkinson's disease · 2023Article
- Tools for communicating risk for Parkinson's disease.NPJ Parkinson's disease · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 1 institution in 2 countries.
Emily J HillDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.ORCID https://orcid.org/0000-0002-5267-570X
Laurie A RobakDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.ORCID https://orcid.org/0000-0001-8279-2504
Rami Al-OuranDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Jennifer DegerDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.ORCID https://orcid.org/0000-0003-2208-3348
Jamie C FongDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Paul Jerrod VandeventerDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Emily SchulmanDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Sindhu RaoDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Hiba SaadeDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Joseph M SavittDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Rainer von CoellnDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Neeja DesaiDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Harshavardhan DoddapaneniDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.ORCID https://orcid.org/0000-0002-2433-633X
Sejal SalviDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Shannon Dugan-PerezDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Donna M MuznyDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Amy L McGuireDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Zhandong LiuDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.ORCID https://orcid.org/0000-0002-7608-0831
Richard A GibbsDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Chad ShawDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.ORCID https://orcid.org/0000-0001-7267-5398
Joseph JankovicDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Lisa M ShulmanDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
Joshua M ShulmanDepartment of Neurology (E.J.H., S.R., H.S., J.J., J.M. Shulman), and Parkinson's Disease Center and Movement Disorders Clinic (E.J.H., C.S., J.J., J.M. Shulman), Baylor College of Medicine, Houston, TX. E.J. Hill is now with Department of Neurology and Rehabilitation Medicine, University of Cincinnati, OH; Department of Molecular and Human Genetics (L.A.R., J.C.F., P.J.V., R.A.G., J.M. Shulman), Department of Pediatrics (R.A.-O., Z.L.), and Department of Neuroscience (J.D., J.M. Shulman), Baylor College of Medicine, Houston, TX; Department of Neurology (E.S., J.M. Savitt, R.v.C., N.D., L.M.S.), University of Maryland School of Medicine, Baltimore; Center for Alzheimer's and Neurodegenerative Diseases (H.S., A.L.M., Z.L., J.M. Shulman), Human Genome Sequencing Center (H.D., S.S., S.D.-P., D.M.M., R.A.G.), and Center for Medical Ethics and Health Policy (A.L.M.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (Z.L., J.M. Shulman), Texas Children's Hospital, Houston.
University of Maryland, Baltimore · US
Funding
Parkinson's disease susceptibility in carriers of lysosomal storage disorder genesK08NS112467 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI ROBAK, LAURIE A · 2019 to 2023
$939kNINDS NIH HHS K08 NS112467
Abstract
Background and Objectives: Genetic variants affect both Parkinson disease (PD) risk and manifestations. Although genetic information is of potential interest to patients and clinicians, genetic testing is rarely performed during routine PD clinical care. The goal of this study was to examine interest in comprehensive genetic testing among patients with PD and document reactions to possible findings from genome sequencing in 2 academic movement disorder clinics. Methods: In 203 subjects with PD (age = 63 years, 67% male), genome sequencing was performed and filtered using a custom panel, including 49 genes associated with PD, parkinsonism, or related disorders, as well as a 90-variant PD genetic risk score. Based on the results, 231 patients (age = 67 years, 63% male) were surveyed on interest in genetic testing and responses to vignettes covering (1) familial risk of PD ( Results: Genome sequencing revealed a Discussion: Our results highlight broad interest in comprehensive genetic testing among patients with PD and may facilitate integration of genome sequencing in clinical practice.
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