I feel honored to search for cures that improve the lives of children.
Where I see patients (2)
TMTC4 is a hair-cell-specific human deafness gene.
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
NPJ genomic medicine
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
Journal of medical genetics
Tender wagging care