Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care SystemRani Sachdev, Jason Pinner, Sarah A. Sandaradura et al.|JAMA|2020Cited by 235
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C. Oates, Susan T. Iannaccone, Kristi Jones et al.|Annals of Neurology|2018Cited by 164
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C. Dworschak, Roy N. Alcalay, Jaya Punetha et al.|Genetics in Medicine|2021Cited by 38