Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Walsh R., Thomson KL., Ware JS., Funke BH., Woodley J., McGuire KJ., Mazzarotto F., Blair E., Seller A., Taylor JC., Minikel EV., Exome Aggregation Consortium ., MacArthur DG., Farrall M., Cook SA., Watkins H.