Author

Stefanie M. Heinrich

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Genetic & Genomic Medicine· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

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Amanda Hope· 1 shared Amina Kurtović-KozarićiD· 1 shared Emily G. EvangelistaiD· 1 shared Jordan C. WoodiD· 1 shared Leena Panwala· 1 shared Mark J. KieliD· 1 shared Moriel Singer‐BerkiD· 1 shared Samantha M. BaxteriD· 1 shared

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2024-2024 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Amanda Hope

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1 paper

Recent·Most cited

Genetic & Genomic MedicineOrphanet Journal of Rare DiseasesPeer-reviewedOct 18, 2024

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration

Amina Kurtović-Kozarić, Moriel Singer‐Berk, Jordan C. Wood…·Mark J. Kiel

The paper estimates the genetic prevalence of PLA2G6-associated neurodegeneration using database and literature-based approaches, finding higher prevalence in African/African-American and Asian populations.

13 citations

humanwhole-exome sequencing

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