Publications
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 ;78(2):303-14.
. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis. 2015 ;38(5):905-14.
. FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023 ;14(1):2026.
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