Search Results - "Louwen, Jesse"

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome by Douben, Hannie, Hoogeveen-Westerveld, Marianne, Nellist, Mark, Louwen, Jesse, Haan, Marian Kroos-de, Punt, Mattijs, van Ommeren, Babeth, van Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, van Bever, Yolande, van Vliet, Margreethe, Oostenbrink, Rianne, Saris, Jasper J., Wagner, Anja, van Ierland, Yvette, van Ham, Tjakko, van Minkelen, Rick

“…Neurofibromatosis type 1 (NF1) and Legius syndrome (LS) are caused by inactivating variants in NF1 and SPRED1. NF1 encodes neurofibromin (NF), a…”
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High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing by Douben, Hannie C. W., Nellist, Mark, Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, Hoogeveen‐Westerveld, Marianne, Louwen, Jesse, Veghel‐Plandsoen, Monique, Valk, Walter, Saris, Jasper J., Hendriks, Femke, Korpershoek, Esther, Hoefsloot, Lies H., Vliet, Margreethe, Bever, Yolande, Laar, Ingrid, Aten, Emmelien, Lachmeijer, Augusta M. A., Taal, Walter, Bersselaar, Lisa, Schuurmans, Juliette, Oostenbrink, Rianne, Minkelen, Rick, Ierland, Yvette, Ham, Tjakko J.

“…Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the…”
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