CoNVaDING: Single Exon Variation Detection in Targeted NGS Data
Johansson, Lennart F., van Dijk, Freerk, de Boer, Eddy N., van Dijk-Bos, Krista K., Jongbloed, Jan D.H., van der Hout, Annemieke H., Westers, Helga, Sinke, Richard J., Swertz, Morris A., Sijmons, Rolf H., Sikkema-Raddatz, Birgit
Published in Human mutation (01.05.2016)
Published in Human mutation (01.05.2016)
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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly
Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K, Johansson, Lennart F, van Essen, Anthonie J, Verheij, Johanna B G M, Veenstra-Knol, Hermine E, Redeker, Egbert J W, Mannens, Marcel M A M, Swertz, Morris A, Alizadeh, Behrooz Z, van Ravenswaaij-Arts, Conny M A, Sinke, Richard J, Sikkema-Raddatz, Birgit
Published in BMC medical genomics (04.02.2016)
Published in BMC medical genomics (04.02.2016)
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In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe
Gostyńska, Katarzyna B, Bremer, Jeroen, van Dijk-Bos, Krista K, Sinke, Richard, Pasmooij, Anna Maria G, Jonkman, Marcel F
Published in Acta dermato-venereologica (01.01.2017)
Published in Acta dermato-venereologica (01.01.2017)
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