This method of filtering has been used to successfully identify disease-causing mutations, including recently by Willemsen et al to identify mutations in DYNC1H1 that cause severe intellectual disability with neuronal migration defects and by Daoud et al to identify mutations in SPG11 that cause juvenile amyotrophic lateral sclerosis [28], [29]. The gene discussed is DYNC1H1; the disease is juvenile amyotrophic lateral sclerosis.