Functional assays combined with pre-mRNA splicing analysis improve variant classification and diagnostics for individuals with Neurofibromatosis type 1 and Legius syndrome.
Hannie Douben1*, Marianne Hoogeveen-Westerveld1*, Mark Nellist1*, Jesse Louwen1, Marian Kroos-de Haan1, Mattijs Punt1,3, Babeth van Ommeren1, Leontine van Unen1, Peter Elfferich1, Esmee Kasteleijn1, Yolande van Bever1, Margreethe van Vliet1, Rianne Oostenbrink2,4, Jasper J. Saris1, Anja Wagner1, Yvette van Ierland1,4, Tjakko van Ham1, Rick van Minkelen1,4
1. Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands
2. Department of Pediatrics, Erasmus University Medical Center, Rotterdam, The Netherlands
3. current address: Department of Neuroscience, Erasmus University Medical Center, Rotterdam, The Netherlands
4. ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, The Netherlands
* these authors contributed equally
Correspondence and requests for materials should be addressed to: Prof. T. van Ham (t.vanham@erasmusmc.nl) or Dr. R. van Minkelen (r.vanminkelen@erasmusmc.nl), Department of Clinical Genetics, Erasmus University Medical Center, Wytemaweg 80, 3015CN Rotterdam, The Netherlands.