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.