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.
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome
Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation
