truncations cause arrhythmogenic right ventricular cardiomyopathy. J Med Genet 57, 254-257 (2020).
Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease. Eur J Hum Genet 25, 530-537 (2017).
Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings. Am J Med Genet A 164A, 2745-52 (2014).