SORD and cystic fibrosis: Twenty two candidates represent the most likely new, fully penetrant, Mendelian disease genes (Table S8 in the Supplementary Appendix and ClinVar accession numbers SCV001759972 - SCV001760540) with three recently independently confirmed diagnoses: UBAP1 in hereditary spastic paraplegia,27FOXJ1 in non-CF bronchiectasis,28 and SORD in Charcot-Marie Tooth disease.29 Diagnostic reports were issued for three probands with these genes (Figure 1) and we are investigating others in GeneMatcher and by functional validation studies in model organisms.