Karmen M Trzupek

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

William J. Kimberling, Michael S. Hildebrand, A. Eliot Shearer et al. · Genetics in Medicine · 2010 · 268 citations · Full text

Early Diagnosis, Pediatric Otolaryngology, Pediatric Audiology +10

Clinical and Electrophysiologic Characterization of Paraneoplastic and Autoimmune Retinopathies Associated With Antienolase Antibodies

Richard G. Weleber, Robert C. Watzke, William T. Shults et al. · American Journal of Ophthalmology · 2005 · 203 citations · Full text

Antienolase Antibodies, Ocular Disease, Retina +10

Mutations in<i>RPGR</i>and<i>RP2</i>Account for 15% of Males with Simplex Retinal Degenerative Disease

Kari Branham, Mohammad Othman, Matthew Brumm et al. · Investigative Ophthalmology & Visual Science · 2012 · 126 citations · Full text

The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation of<i>RPE65</i>and Differentiation from Leber Congenital Amaurosis

Richard G. Weleber, Michel Michaelides, Karmen M Trzupek et al. · Investigative Ophthalmology & Visual Science · 2010 · 73 citations

Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)

Richard G. Weleber, Nisha Gupta, Karmen M Trzupek et al. · Molecular Genetics and Metabolism · 2004 · 61 citations

Ocular Disease, Retina, Ophthalmology +7