Publications
] Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Mol Genet Genomic Med 8, e1397 (2020).
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med 23, 653-660 (2021).
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62254
