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Kathryn Step

Stellenbosch University

Private Bag X1

Stellenbosch, 7602

South Africa

  • Stellenbosch University

SCHOLARLY PAPERS

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Scholarly Papers (1)

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Comprehensive genetic screening of the South African Parkinson’s disease study collection using the NeuroBooster array

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Comprehensive genetic screening of the South African Parkinson’s disease study collection using the NeuroBooster array

Number of pages: 24 Posted: 10 Feb 2026
Soraya Bardien, Kathryn Step, Lusanda Madula, Nicole Kuznetsov, Elizna Maasdorp, Jonathan Carr, Riaan van Coller and Ignacio F. Mata
Stellenbosch University, Stellenbosch University, Stellenbosch University, affiliation not provided to SSRN, Stellenbosch University, Stellenbosch University, Stellenbosch University and Cleveland Clinic
Downloads 18 (1,570,077)

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Parkinson's disease, South Africa, pathogenic variants, copy number variants, CNV-Finder, SNCA, PRKN, Multiplex Ligation-dependent Probe Amplification

Comprehensive genetic screening of the South African Parkinson’s disease study collection using the NeuroBooster array

Number of pages: 24 Posted: 12 Jun 2026
Kathryn Step, Lusanda Madula, Nicole Kuznetsov, Elizna Maasdorp, Jonathan Carr, Riaan van Coller, Marlo Möller, Ignacio F. Mata and Soraya Bardien
Stellenbosch University, Stellenbosch University, affiliation not provided to SSRN, Stellenbosch University, Stellenbosch University, Stellenbosch University, Stellenbosch University, Cleveland Clinic and Stellenbosch University
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Abstract:

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Parkinson's disease, South Africa, pathogenic variant screening, copy number variants, CNV-Finder, SNCA, PRKN, Multiplex Ligation-dependent Probe Amplification