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