Genetic testing and diagnosis of inherited retinal diseases by Lam, Byron L, Leroy, Bart P, Black, Graeme, Ong, Tuyen, Yoon, Dan, Trzupek, Karmen

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The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis by Weleber, Richard G, Michaelides, Michel, Trzupek, Karmen M, Stover, Niamh B, Stone, Edwin M

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Clinical and Electrophysiologic Characterization of Paraneoplastic and Autoimmune Retinopathies Associated With Antienolase Antibodies by Weleber, Richard G., Watzke, Robert C., Shults, William T., Trzupek, Karmen M., Heckenlively, John R., Egan, Robert A., Adamus, Grazyna

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Choroideremia: Analysis of the Retina from a Female Symptomatic Carrier by Bonilha, Vera L., Trzupek, Karmen M., Li, Yong, Francis, Peter J., Hollyfield, Joe G., Rayborn, Mary E., Smaoui, Nizar, Weleber, Richard G.

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Combined Retinal Hamartomas Leading to the Diagnosis of Neurofibromatosis Type 2 by Grant, Elizabeth A., Trzupek, Karmen M., Reiss, Jacob, Crow, Kate, Messiaen, Ludwine, Weleber, Richard G.

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Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram by Thiagalingam, Sureka, McGee, Terri L., Weleber, Richard G., Sandberg, Michael A., Trzupek, Karmen M., Berson, Eliot L., Dryja, Thaddeus P.

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Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease) by Weleber, Richard G., Gupta, Nisha, Trzupek, Karmen M., Wepner, Meredith S., Kurz, Daryl E., Milam, Ann H.

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An evidence‐based practice guideline of the National Society of Genetic Counselors for telehealth genetic counseling by Green, Sarah, Hartzfeld, Deborah, Terry, Alissa Bovee, Fissell, Kristi, Friedman, Sue, Paolino, Nicholas, Principe, Kate, Sandbach, John, Trzupek, Karmen, Winheld, Stephanie, Malinowski, Jennifer

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Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype by Trzupek, Karmen M., Falk, Rena E., Demer, Joseph L., Weleber, Richard G.

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Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease by Branham, Kari, Othman, Mohammad, Brumm, Matthew, Karoukis, Athanasios J, Atmaca-Sonmez, Pelin, Yashar, Beverly M, Schwartz, Sharon B, Stover, Niamh B, Trzupek, Karmen, Wheaton, Dianna, Jennings, Barbara, Ciccarelli, Maria Laura, Jayasundera, K Thiran, Lewis, Richard A, Birch, David, Bennett, Jean, Sieving, Paul A, Andreasson, Sten, Duncan, Jacque L, Fishman, Gerald A, Iannaccone, Alessandro, Weleber, Richard G, Jacobson, Samuel G, Heckenlively, John R, Swaroop, Anand

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Clinical report. Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype by TRZUPEK, Karmen M, FALK, Rena E, DEMER, Joseph L, WELEBER, Richard G

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Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype by Trzupek, Karmen M., Falk, Rena E., Demer, Joseph L., Weleber, Richard G.

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