Author

Erik-Jan Kamsteeg

Radboud University Medical Center

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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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Organism:zebrafish· 1

Frequent Co-Authors

Christian GilisseniD· 2 shared Han G. BrunneriD· 2 shared Lisenka E.L.M. VissersiD· 2 shared Tjitske KleefstraiD· 2 shared A. Gulhan Ercan‐SencicekiD· 1 shared Adam JacksoniD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Alberto Corvo· 1 shared

Activity by Year

2016-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christian GilissenORCID

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Author profile →

3 papers

Recent·Most cited

Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses

German M. Demidov, Burcu Yaldiz, José Garcia‐Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltrán, Christian Gilissen, Alexander Hoischen, , Emanuele Raineri

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

npj Genomic Medicine · Oct 26, 2024Peer-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

Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability

Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt, Helger G. Yntema, Erik-Jan Kamsteeg, Petra de Vries, Bert B.A. de Vries, Marjolein H. Willemsen, Tjitske Kleefstra, Katharina Löhner, Maaike Vreeburg, Servi Stevens, Ineke van der Burgt, Ernie M.H.F. Bongers, Alexander P.A. Stegmann, , Christian Gilissen

This study identifies 10 novel candidate genes for intellectual disability through a meta-analysis of de novo mutations from 2,104 trios.

bioRxiv · May 11, 2016Genetics