Sharon F. Kuo

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction

Nahid G. Robertson, Cor W. R. J. Cremers, P.L.M. Huygen et al. · Human Molecular Genetics · 2006 · 116 citations · Full text

Medicine, Genetics, Neuroscience +17

A novel <i>DFNA9</i> mutation in the vWFA2 domain of <i>COCH</i> alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site‐specific vestibular and central oculomotor dysfunction

Valerie A. Street, Jeremy C. Kallman, Nahid G. Robertson et al. · American Journal of Medical Genetics Part A · 2005 · 57 citations

Medicine, Genetics, Molecular Genetics +15

Increasing evidence for syndromic phenotypes associated with RPGR mutations

Alessandro Iannaccone, X WANG, MM Jablonski et al. · American Journal of Ophthalmology · 2004 · 21 citations

Life Sciences, Genetics, Molecular Genetics +13