Jos Jansen

50 Chapter 2 Accession Numbers Theaccessionnumbers for thepathogenicvariants c.92T > C, c.31G > T, andc.92T > C and the CCDC115 deletion reported in his paper are ClinVar: SCV000257472, SCV000257474, and SCV000257477, respectively. Acknowledgments We would like to thank all individuals and their families for their participation in this study. We would also like to thank the group of Prof. C. Biot and Dr. Y. Guerardel for their generous donation of ManNAI and Dr. F. Pellicano and Dr. T. Iwata for their generous donation of the anti-CCDC115 antisera. This work was financially supported by grants from the Institute of Genetic and Metabolic Disease (D.J.L., J.A.V., and R. J. Rodenburg), the Dutch Organization for Scientific Research (ZONMW Medium Investment grant 40-00506-98-9001, VIDI grant 91713359 to D.J.L., and VENI grant to A.G.H.), the AMC graduate school PhD scholarship (M.A.W.v.d.B.), the Metakids foundation (J.C.J., M.V.S., J.D., D.J.L.), the Dr. Karel-Lodewijk Verleysen Award (J.D.), the Spanish Ministry of Economy and Competitiveness (grant PI11/01254 to B.P., C.P.C., and C.M.), the German Research Foundation (S.C.), Muscular Dystrophy Association (S.C.), the French national agency (ANR-SOLV_CDG to F.F.), and the ERA-Net for Research Programs on Rare Diseases Joint Transnational Call 2011 (EUROCDG, grant ERARE11-135 to G.M. and F.F.). Web Resources The URLs for data presented herein are as follows: BLAST, http://blast.ncbi.nlm.nih.gov/Blast.cgi COILS, http://www.ch.embnet.org/software/COILS_form.html dbSNP, http://www.ncbi.nlm.nih.gov/projects/SNP/ ExAC Browser, http://exac.broadinstitute.org ImageJ, http://imagej.nih.gov/ij Jalview, http://www.jalview.org MutationTaster, http://www.mutationtaster.org/