Author

Nádia F. Simões de Souza

University Medical Center GroningenORCID 0000-0002-6828-5116Unclaimed 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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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:electronic health records· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Aafke EngwerdaiD· 1 shared Adelita V. RanchoriD· 1 shared Barbara Frentz· 1 shared Conny M.A. van Ravenswaaij‐ArtsiD· 1 shared Eleana RrakuiD· 1 shared Mirjam PlantingaiD· 1 shared Morris A. SwertziD· 1 shared Wilhelmina S. Kerstjens‐FrederikseiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aafke EngwerdaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 7, 2022

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

Aafke Engwerda, Barbara Frentz, Eleana Rraku…·Conny M.A. van Ravenswaaij‐Arts

This study compares parent-reported phenotype data on chromosome 6 disorders to medical file data and literature, finding high consistency and greater data availability through parent reports.

3 citations

humanelectronic health records