C9orf72 and amyotrophic lateral sclerosis: We have tested the approach in four variant-disease case studies, drawing upon the most common and widely studied autosomal dominant variants implicated in each disease: the LRRK2 p.Gly2019Ser variant for PD [2]; variants in the BMPR2 gene [MIM: 600799] for heritable pulmonary arterial hypertension (PAH [MIM: 178600]) [17]; and variants in the SOD1 and C9orf72 [MIM: 614260] genes for ALS [11, 12].