Analysis of the ABCA4 genomic locus in Stargardt disease
Zernant, Jana, Xie, Yajing Angela, Ayuso, Carmen, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel-Angel, Simonelli, Francesca, Testa, Francesco, Gorin, Michael B, Strom, Samuel P, Bertelsen, Mette, Rosenberg, Thomas, Boone, Philip M, Yuan, Bo, Ayyagari, Radha, Nagy, Peter L, Tsang, Stephen H, Gouras, Peter, Collison, Frederick T, Lupski, James R, Fishman, Gerald A, Allikmets, Rando
Published in Human molecular genetics (20.12.2014)
Published in Human molecular genetics (20.12.2014)
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Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
Scholl, Hendrik P N, Moore, Anthony T, Koenekoop, Robert K, Wen, Yuquan, Fishman, Gerald A, van den Born, L Ingeborgh, Bittner, Ava, Bowles, Kristen, Fletcher, Emily C, Collison, Frederick T, Dagnelie, Gislin, Degli Eposti, Simona, Michaelides, Michel, Saperstein, David A, Schuchard, Ronald A, Barnes, Claire, Zein, Wadih, Zobor, Ditta, Birch, David G, Mendola, Janine D, Zrenner, Eberhart
Published in PloS one (10.12.2015)
Published in PloS one (10.12.2015)
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Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy
Collison, Frederick T, Fishman, Gerald A, Nagasaki, Takayuki, Zernant, Jana, McAnany, J Jason, Park, Jason C, Allikmets, Rando
Published in Investigative ophthalmology & visual science (01.05.2019)
Published in Investigative ophthalmology & visual science (01.05.2019)
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Journal Article
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes
Zernant, Jana, Lee, Winston, Nagasaki, Takayuki, Collison, Frederick T, Fishman, Gerald A, Bertelsen, Mette, Rosenberg, Thomas, Gouras, Peter, Tsang, Stephen H, Allikmets, Rando
Published in Cold Spring Harbor molecular case studies (01.08.2018)
Published in Cold Spring Harbor molecular case studies (01.08.2018)
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Seeking clarity on retinal findings in patients with COVID-19
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Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration
Zernant, Jana, Lee, Winston, Collison, Frederick T, Fishman, Gerald A, Sergeev, Yuri V, Schuerch, Kaspar, Sparrow, Janet R, Tsang, Stephen H, Allikmets, Rando
Published in Journal of medical genetics (01.06.2017)
Published in Journal of medical genetics (01.06.2017)
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Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease
Razeen, Moataz M, Cooper, Robert F, Langlo, Christopher S, Goldberg, Mara R, Wilk, Melissa A, Han, Dennis P, Connor, Jr, Thomas B, Fishman, Gerald A, Collison, Frederick T, Sulai, Yusufu N, Dubra, Alfredo, Carroll, Joseph, Stepien, Kimberly E
Published in Translational vision science & technology (01.03.2016)
Published in Translational vision science & technology (01.03.2016)
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Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia
Langlo, Christopher S, Patterson, Emily J, Higgins, Brian P, Summerfelt, Phyllis, Razeen, Moataz M, Erker, Laura R, Parker, Maria, Collison, Frederick T, Fishman, Gerald A, Kay, Christine N, Zhang, Jing, Weleber, Richard G, Yang, Paul, Wilson, David J, Pennesi, Mark E, Lam, Byron L, Chiang, John, Chulay, Jeffrey D, Dubra, Alfredo, Hauswirth, William W, Carroll, Joseph
Published in Investigative ophthalmology & visual science (01.08.2016)
Published in Investigative ophthalmology & visual science (01.08.2016)
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Pathognomonic macular ripples are revealed by polarized infrared retinal imaging
Ansari, Darius, Borkar, Poulami P, Davis, Patricia L, Collison, Frederick T, Wynne, Niamh, Zangler, Nicole, Fishman, Gerald A, Carroll, Joseph, Yao, Xincheng, Grassi, Michael A
Published in Experimental biology and medicine (Maywood, N.J.) (01.10.2021)
Published in Experimental biology and medicine (Maywood, N.J.) (01.10.2021)
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Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent
Lee, Winston, Schuerch, Kaspar, Zernant, Jana, Collison, Frederick T, Bearelly, Srilaxmi, Fishman, Gerald A, Tsang, Stephen H, Sparrow, Janet R, Allikmets, Rando
Published in European journal of human genetics : EJHG (01.06.2017)
Published in European journal of human genetics : EJHG (01.06.2017)
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Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients
Collison, Frederick T, Park, Jason C, Fishman, Gerald A, McAnany, J Jason, Stone, Edwin M
Published in Investigative ophthalmology & visual science (01.11.2015)
Published in Investigative ophthalmology & visual science (01.11.2015)
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REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA
Langlo, Christopher S, Erker, Laura R, Parker, Maria, Patterson, Emily J, Higgins, Brian P, Summerfelt, Phyllis, Razeen, Moataz M, Collison, Frederick T, Fishman, Gerald A, Kay, Christine N, Zhang, Jing, Weleber, Richard G, Yang, Paul, Pennesi, Mark E, Lam, Byron L, Chulay, Jeffrey D, Dubra, Alfredo, Hauswirth, William W, Wilson, David J, Carroll, Joseph
Published in Retina (Philadelphia, Pa.) (01.10.2017)
Published in Retina (Philadelphia, Pa.) (01.10.2017)
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Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease
Park, Jason C, Collison, Frederick T, Fishman, Gerald A, Allikmets, Rando, Zernant, Jana, Liu, Michelle, McAnany, J Jason
Published in Investigative ophthalmology & visual science (01.07.2015)
Published in Investigative ophthalmology & visual science (01.07.2015)
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Journal Article
Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients
Zernant, Jana, Collison, Frederick T., Lee, Winston, Fishman, Gerald A., Noupuu, Kalev, Yuan, Bo, Cai, Carolyn, Lupski, James R., Yannuzzi, Lawrence A., Tsang, Stephen H., Allikmets, Rando
Published in Human mutation (01.10.2014)
Published in Human mutation (01.10.2014)
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