A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeVandana Shashi, Shweta U. Dhar, Kelly Schoch et al.|Genetics in Medicine|2018Cited by 81
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital DefectsAndrea Accogli, Lindsay C. Burrage, Sara Calabretta et al.|The American Journal of Human Genetics|2019Cited by 51
Heterozygous variants in <i>MYBPC1</i> are associated with an expanded neuromuscular phenotype beyond arthrogryposisVandana Shashi, Manish J. Butte, Jennifer A. Sullivan et al.|Human Mutation|2019Cited by 30