An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
Volatile anesthesia for a pediatric patient with very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report
Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population
High Frequency of Known Copy Number Abnormalities and Maternal Duplication 15q11-q13 in Patients with Combined Schizophrenia and Epilepsy
Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.
