Area of research
Clinical Biochemistry · Molecular Biology
Research interest
Research interests include Biology, Medicine, Genetics, Weakness, Facial weakness, and Myogenesis.
Systematic phenotype and genotype characterization of Moebius syndrome
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome