Author

Kathryn Monfils

Erasmus MC

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Anneke J.A. KievitiD· 1 shared Esmee KasteleijniD· 1 shared Farah Sadeghi-Niaraki· 1 shared Frans W. Verheijen· 1 shared Geert GeeveniD· 1 shared Grazia M. S. ManciniiD· 1 shared Hannie DoubeniD· 1 shared Hidde H. HuidekoperiD· 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

Anneke J.A. KievitORCID

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Author profile →

1 paper

Recent·Most cited

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants

Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel–Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L. T. van der Sterre, , Tjakko J. van Ham

This study uses RNA-seq to improve diagnosis of neurodevelopmental disorders by identifying non-coding variants and reinterpreting coding variants, increasing diagnostic yield by 12%.

medRxiv · Jun 5, 2022 · PreprintGenetic & Genomic Medicine