Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease von Stone, Edwin M., MD, PhD, Andorf, Jeaneen L., BA, Whitmore, S. Scott, PhD, DeLuca, Adam P., PhD, Giacalone, Joseph C., BS, Streb, Luan M., BA, Braun, Terry A., PhD, Mullins, Robert F., PhD, Scheetz, Todd E., PhD, Sheffield, Val C., MD, PhD, Tucker, Budd A., PhD

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North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13 von Small, Kent W., MD, DeLuca, Adam P., PhD, Whitmore, S. Scott, PhD, Rosenberg, Thomas, MD, Silva-Garcia, Rosemary, MD, Udar, Nitin, PhD, Puech, Bernard, MD, Garcia, Charles A., MD, Rice, Thomas A., MD, Fishman, Gerald A., MD, Héon, Elise, MD, Folk, James C., MD, Streb, Luan M., BA, Haas, Christine M., BA, Wiley, Luke A., PhD, Scheetz, Todd E., PhD, Fingert, John H., MD, PhD, Mullins, Robert F., PhD, Tucker, Budd A., PhD, Stone, Edwin M., MD, PhD

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Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa von Tucker, Budd A, Mullins, Robert F, Streb, Luan M, Anfinson, Kristin, Eyestone, Mari E, Kaalberg, Emily, Riker, Megan J, Drack, Arlene V, Braun, Terry A, Stone, Edwin M

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Identification of the gene ( BBS1 ) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome von Sheffield, Val C, Mykytyn, Kirk, Nishimura, Darryl Y, Searby, Charles C, Shastri, Mythreyi, Yen, Hsan-jan, Beck, John S, Braun, Terry, Streb, Luan M, Cornier, Alberto S, Cox, Gerald F, Fulton, Anne B, Carmi, Rivka, Lüleci, Güven, Chandrasekharappa, Settara C, Collins, Francis S, Jacobson, Samuel G, Heckenlively, John R, Weleber, Richard G, Stone, Edwin M

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Elevated membrane attack complex in human choroid with high risk complement factor H genotypes von Mullins, Robert F., Dewald, Aaron D., Streb, Luan M., Wang, Kai, Kuehn, Markus H., Stone, Edwin M.

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Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31 von Sheffield, Val C, Stone, Edwin M, Alward, Wallace L.M, Drack, Arlene V, Johnson, A. Tim, Streb, Luan M, Nichols, Brian E

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Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confir... von Tucker, Budd A, Cranston, Cathryn M, Anfinson, Kristin A, Shrestha, Suruchi, Streb, Luan M, Leon, Alejandro, Mullins, Robert F, Stone, Edwin M

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LOXL1 Mutations Are Associated with Exfoliation Syndrome in Patients from the Midwestern United States von Fingert, John H, Alward, Wallace L.M, Kwon, Young H, Wang, Kai, Streb, Luan M, Sheffield, Val C, Stone, Edwin M

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Mutation of a nuclear receptor gene, NR2E3 , causes enhanced S cone syndrome, a disorder of retinal cell fate von Sheffield, Val C, Carmi, Rivka, Hockey, Robin, Haider, Neena B, Searby, Charles, Cideciyan, Artur V, Gorman, Susan, Streb, Luan M, Stone, Edwin M, Wright, Alan F, Hanna, David B, Swiderski, Ruth, Jacobson, Samuel G, Fishman, Gerald A, Bennett, Jean, Duhl, David, Beck, Gretel, Weleber, Richard G

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Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13 von Stone, Edwin M, Nichols, Brian E, Streb, Luan M, Kimura, Alan E, Sheffield, Val C

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Three autosomal dominant corneal dystrophies map to chromosome 5q von Stone, Edwin M, Mathers, William D, Rosenwasser, George O.D, Holland, Edward J, Folberg, Robert, Krachmer, Jay H, Nichols, Brian E, Gorevic, Peter D, Taylor, Chris M, Streb, Luan M, Fishbaugh, Jill A, Daley, Thomas E, Sucheski, Brian M, Sheffield, Val C

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Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration von Sheffield, Val C, Stone, Edwin M, Streb, Luan M, Hockey, Robin R, Lotery, Andrew J, Webster, Andrew R, Vandenburgh, Kimberlie

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Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25) von Héon, Elise, Sheth, Bhavna P., Kalenak, Jeffrey W., Sunden, Sara L.F., Streb, Luan M., Taylor, Chris M., Alward, Wallace L.M., C.Sheffield, Val, Stone, Edwin M.

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LOXL1Mutations Are Associated with Exfoliation Syndrome in Patients from the Midwestern United States von Fingert, John H, Alward, Wallace LM, Kwon, Young H, Wang, Kai, Streb, Luan M, Sheffield, Val C, Stone, Edwin M

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Visual outcome following subretinal hemorrhage in Best disease von Chung, M M, Oh, K T, Streb, L M, Kimura, A E, Stone, E M

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Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13 von Stone, Edwin M., Kimura, Alan E., Folk, James C., Bennett, Steven R., Nichols, Brian E., Streb, Luan M., Sheffield, Val C.

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Genetic Linkage of Wagner Disease and Erosive Vitreoretinopathy to Chromosome 5q13-14 von Brown, David M, Graemiger, Roman A, Hergersberg, Martin, Schinzel, Albert, Messmer, Elmar P, Niemeyer, Günther, Schneeberger, Simon A, Streb, Luan M, Taylor, Chris M, Kimura, Alan E, Weingeist, Thomas A, Sheffield, Val C, Stone, Edwin M

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