Tanya Lehky

Systematic phenotype and genotype characterization of Moebius syndrome

Chedíak-Higashi Syndrome: Hair-to-toe spectrum

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

Biallelic loss of function variants in <scp><i>SYT2</i></scp> cause a treatable congenital onset presynaptic myasthenic syndrome

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry

Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome