Analysis of the ABCA4 genomic locus in Stargardt disease by 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

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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies by Xu, Mingchu, Xie, Yajing (Angela), Abouzeid, Hana, Gordon, Christopher T., Fiorentino, Alessia, Sun, Zixi, Lehman, Anna, Osman, Ihab S., Dharmat, Rachayata, Riveiro-Alvarez, Rosa, Bapst-Wicht, Linda, Babino, Darwin, Arno, Gavin, Busetto, Virginia, Zhao, Li, Li, Hui, Lopez-Martinez, Miguel A., Azevedo, Liliana F., Hubert, Laurence, Pontikos, Nikolas, Eblimit, Aiden, Lorda-Sanchez, Isabel, Kheir, Valeria, Plagnol, Vincent, Oufadem, Myriam, Soens, Zachry T., Yang, Lizhu, Bole-Feysot, Christine, Pfundt, Rolph, Allaman-Pillet, Nathalie, Nitschké, Patrick, Cheetham, Michael E., Lyonnet, Stanislas, Agrawal, Smriti A., Li, Huajin, Pinton, Gaëtan, Michaelides, Michel, Besmond, Claude, Li, Yumei, Yuan, Zhisheng, von Lintig, Johannes, Webster, Andrew R., Le Hir, Hervé, Stoilov, Peter, Black, Graeme, Hall, Georgina, Gillespie, Rachel, Ramsden, Simon, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Lord, Emma, Nemeth, Andrea, Halford, Stephanie, Downes, Susan, Yu, Jing, Amiel, Jeanne, Hardcastle, Alison J., Ayuso, Carmen, Sui, Ruifang, Chen, Rui, Allikmets, Rando, Schorderet, Daniel F.

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New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11 by Xie, Yajing Angela, Lee, Winston, Cai, Carolyn, Gambin, Tomasz, Nõupuu, Kalev, Sujirakul, Tharikarn, Ayuso, Carmen, Jhangiani, Shalini, Muzny, Donna, Boerwinkle, Eric, Gibbs, Richard, Greenstein, Vivienne C, Lupski, James R, Tsang, Stephen H, Allikmets, Rando

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Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation by Lee, Winston, Schuerch, Kaspar, Xie, Yajing, Zernant, Jana, Tsang, Stephen H, Sparrow, Janet R, Allikmets, Rando

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Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy by Collison, Frederick T, Xie, Yajing Angela, Gambin, Tomasz, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R, Fishman, Gerald A, Allikmets, Rando

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Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes by Lee, Winston, Xie, Yajing, Zernant, Jana, Yuan, Bo, Bearelly, Srilaxmi, Tsang, Stephen H., Lupski, James R., Allikmets, Rando

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Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy by Collison, Frederick T., Xie, Yajing (Angela), Gambin, Tomasz, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R., Fishman, Gerald A., Allikmets, Rando

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