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Author

Deepa Saravanakumar

Institution: Centogene (Germany)
Observed institution: Centogene (Germany)
ORCID: 0009-0002-6520-9932
Observed ORCID: 0009-0002-6520-9932
OpenAlex ID: A5086084357
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
2022 · Corina-Marcela Rus, Thomas Weissensteiner, et al. · Orphanet Journal of Rare Diseases · 17
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Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing
2023 · Emir Zonic, Mariana Ferreira, et al. · Genetics in Medicine Open · 4
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A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease
2025 · Tobias Boettcher, Christian Beetz, et al. · Neurology Genetics · 2
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Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients
2025 · Christian A. Ganoza, Ana Westenberger, et al. · Movement Disorders
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P740: Impact of gene-disease relationship curation on patient diagnostics and panel design
2025 · Eleni Perraki, Mariana Ferreira, et al. · Genetics in Medicine Open
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P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort
2024 · Tobias Boettcher, Christian Beetz, et al. · Genetics in Medicine Open
Works count: 6
Citation count: 23
H-index: 2
I10-index: 1
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