Where I see patients (4)
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
NPJ genomic medicine
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
American journal of medical genetics. Part A
Utility of genetic work-up for 46, XY patients with severe hypospadias.
Journal of pediatric urology