Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L. Sloan, Charles P. Venditti, Caitlin Krause et al.|Nature Genetics|2011Cited by 108
Whole Exome Sequencing Identifies<i>RAI1</i>Mutation in a Morbidly Obese Child Diagnosed With ROHHAD SyndromeVidhu Thaker, Pankaj B. Agrawal, Kristyn M. Esteves et al.|The Journal of Clinical Endocrinology & Metabolism|2015Cited by 39