Author

Walter G. de Valk

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· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Approach:statistical model· 3 Research Focus:gene regulatory network inference· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Assay:metabolomics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Hidde H. HuidekoperiD· 2 shared Martina WilkeiD· 2 shared Michiel BongaertsiD· 2 shared Tjakko J. van HamiD· 2 shared A. Gulhan Ercan‐SencicekiD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Alice S. BrooksiD· 1 shared Amber Hogart BegtrupiD· 1 shared

Activity by Year

2019-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Hidde H. HuidekoperORCID

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Author profile →

3 papers

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

Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data

Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Hidde H. Huidekoper, Janneke G. Langendonk, Martina Wilke, Walter G. de Valk, Henk J. Blom, Marcel J. T. Reinders, George J. G. Ruijter

This paper introduces Reafect, a computational method that integrates metabolomics and whole exome sequencing to prioritize disease-causing genes in inborn errors of metabolism, showing improved accuracy in identifying causative variants.

Molecular Genetics and Metabolism · May 25, 2022Peer-reviewedGenetic & Genomic Medicine

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Maysoon Alsagob, Ivan Čapo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F. J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, , Tahsin Stefan Barakat

The paper identifies a recurrent start codon mutation in UGP2 causing a severe epileptic encephalopathy, showing that isoform-specific expression loss of an essential gene can lead to disease.

Acta Neuropathologica · Dec 9, 2019Peer-reviewedGenetics