Analysis of protein-coding genetic variation in 60,706 humansMonkol Lek, David Altshuler, Konrad J. Karczewski et al.|Nature|2016Cited by 10.3k
Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA SequenceGiulio Genovese, Steven A. McCarroll, Mikael Landén et al.|New England Journal of Medicine|2014Cited by 3.5k
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorderElaine T. Lim, Christopher A. Walsh, Mohammed Uddin et al.|Nature Neuroscience|2017Cited by 309
Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence DataJoseph Glessner, Wendy K. Chung, Alexander G. Bick et al.|Circulation Research|2014Cited by 277
Analysis of protein-coding genetic variation in 60,706 humansMonkol Lek, David Altshuler, Konrad J. Karczewski et al.|bioRxiv (Cold Spring Harbor Laboratory)|2015Cited by 143