1. High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing. Issue 12 (8th November 2022) Authors: Douben, Hannie C. W.; Nellist, Mark; van Unen, Leontine; Elfferich, Peter; Kasteleijn, Esmee; Hoogeveen‐Westerveld, Marianne; Louwen, Jesse; van Veghel‐Plandsoen, Monique; de Valk, Walter; Saris, Jasper J.; Hendriks, Femke; Korpershoek, Esther; Hoefsloot, Lies H.; van Vliet, Margreethe; van Bever... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 2130 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗