Publications
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet 138, 1105-1115 (2019).
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 36, 928-30 (2015).
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Hum Mutat 36, 1009-1014 (2015).