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Neurology Genetics
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August 2022; 8 (4) Research ArticleOpen Access

Genome Sequencing in the Parkinson Disease Clinic

View ORCID ProfileEmily J. Hill, View ORCID ProfileLaurie A. Robak, Rami Al-Ouran, View ORCID ProfileJennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, View ORCID ProfileHarshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, View ORCID ProfileZhandong Liu, Richard A. Gibbs, View ORCID ProfileChad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman
First published June 20, 2022, DOI: https://doi.org/10.1212/NXG.0000000000200002
Emily J. Hill
From the Department 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.
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  • ORCID record for Emily J. Hill
  • For correspondence: emily.j.hill8@gmail.com
Laurie A. Robak
From the Department 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.
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  • ORCID record for Laurie A. Robak
  • For correspondence: robak@bcm.edu
Rami Al-Ouran
From the Department 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.
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  • For correspondence: rami.alouran@gmail.com
Jennifer Deger
From the Department 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.
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  • ORCID record for Jennifer Deger
  • For correspondence: jennifer.deger@bcm.edu
Jamie C. Fong
From the Department 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.
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  • For correspondence: jamie.fong@bcm.edu
Paul Jerrod Vandeventer
From the Department 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.
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  • For correspondence: paul.vandeventer@bcm.edu
Emily Schulman
From the Department 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.
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  • For correspondence: emily.schulman@som.umaryland.edu
Sindhu Rao
From the Department 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.
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  • For correspondence: sindhu.rao@bcm.edu
Hiba Saade
From the Department 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.
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  • For correspondence: hiba.saade@bcm.edu
Joseph M. Savitt
From the Department 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.
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  • For correspondence: jsavitt@som.umaryland.edu
Rainer von Coelln
From the Department 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.
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  • For correspondence: rvoncoelln@som.umaryland.edu
Neeja Desai
From the Department 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.
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  • For correspondence: desai.neeja14@gmail.com
Harshavardhan Doddapaneni
From the Department 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.
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  • For correspondence: doddapan@bcm.edu
Sejal Salvi
From the Department 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.
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  • For correspondence: sejal.salvi@bcm.edu
Shannon Dugan-Perez
From the Department 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.
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  • For correspondence: sdugan@bcm.edu
Donna M. Muzny
From the Department 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.
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  • For correspondence: donnam@bcm.edu
Amy L. McGuire
From the Department 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.
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  • For correspondence: amcguire@bcm.edu
Zhandong Liu
From the Department 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.
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  • ORCID record for Zhandong Liu
  • For correspondence: zhandonl@bcm.edu
Richard A. Gibbs
From the Department 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.
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  • For correspondence: agibbs@bcm.edu
Chad Shaw
From the Department 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.
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  • ORCID record for Chad Shaw
  • For correspondence: cashaw@bcm.edu
Joseph Jankovic
From the Department 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.
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  • For correspondence: josephj@bcm.edu
Lisa M. Shulman
From the Department 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.
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  • For correspondence: lshulman@som.umaryland.edu
Joshua M. Shulman
From the Department 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.
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Full PDF
Citation
Genome Sequencing in the Parkinson Disease Clinic
Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman
Neurol Genet Aug 2022, 8 (4) e200002; DOI: 10.1212/NXG.0000000000200002

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    Figure 1 Sample PD Genome Sequencing Report

    This report represents the most common results based on application of our customized PD gene panel (see also eTable 1, links.lww.com/NXG/A530, for all genes included in categories 1–3).

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    Figure 2 Genetic Risk Score Distribution

    Density plot for the PD genetic risk score. Z scores reflect standard deviations from the mean. The low- and high-risk groups are indicated by dashed lines, highlighting cutoffs for the first and fifth quintiles, respectively. PD = Parkinson disease.

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    Figure 3 Survey Results

    Results from survey questions gauging subject interest in comprehensive genetic testing at baseline (A) or following several clinical vignettes, including disclosure of an LRRK2 variant (B, vignette 1), GBA variant (C, vignette 2), genetic risk score (D, vignette 3), or secondary, medically actionable finding unrelated to PD (E, vignette 4). The survey responses for “interest level” (A and C), included 1, “not interested”; 2, “a little interested”; 3, “moderately interested”; and 4, “very interested.” For “change in interest” (B, C, and E), responses included 1, “much less interested”; 2, “a little less interested”; 3, “no change”; 4, “a little more interested”; and 5, “much more interested.” Most subjects reported no change or increased interest in genetic testing following disclosures. For complete survey and all results, see eMethods and eTable 4 (links.lww.com/NXG/A530). PD = Parkinson disease.

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