Author

Alina Izabela Esterhuizen

National Health Laboratory ServiceORCID 0000-0002-6976-9489Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aishwarya RamamurthyiD· 1 shared Aparna RadhakrishnaniD· 1 shared Betselote Mekonnen· 1 shared Chayna J. Davis· 1 shared Christian D. FrazariD· 1 shared Colby T. MarviniD· 1 shared Colleen P. Davis· 1 shared Daniel J. McGoldrick· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aishwarya RamamurthyORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 8, 2022

Precision medicine for developmental and epileptic encephalopathies in Africa: strategies for a resource-limited setting.

Alina Izabela Esterhuizen, Nicki Tiffin, Gillian Tracy Riordan…·Gemma L. Carvill

The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.

16 citations

humanwhole-exome sequencing

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