| A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases S Yamamoto, M Jaiswal, WL Charng, T Gambin, E Karaca, G Mirzaa, ... Cell 159 (1), 200-214, 2014 | 399 | 2014 |
| Analysis of the ABCA4 genomic locus in Stargardt disease J Zernant, Y Xie, C Ayuso, R Riveiro-Alvarez, MA Lopez-Martinez, ... Human molecular genetics 23 (25), 6797-6806, 2014 | 148 | 2014 |
| Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy C Schubert, A Pryds, S Zeng, Y Xie, KB Freund, RF Spaide, JC Merriam, ... Human mutation 35 (7), 859-867, 2014 | 110 | 2014 |
| Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype SH Tsang, T Burke, M Oll, S Yzer, W Lee, YA Xie, R Allikmets Ophthalmology 121 (9), 1773-1782, 2014 | 82 | 2014 |
| Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies M Xu, YA Xie, H Abouzeid, CT Gordon, A Fiorentino, Z Sun, A Lehman, ... The American Journal of Human Genetics 100 (4), 592-604, 2017 | 70 | 2017 |
| Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes W Lee, Y Xie, J Zernant, B Yuan, S Bearelly, SH Tsang, JR Lupski, ... Human genetics 135, 9-19, 2016 | 50 | 2016 |
| New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11 Y Xie, W Lee, C Cai, T Gambin, K Noupuu, T Sujirakul, C Ayuso, ... Human molecular genetics 23 (21), 5774-5780, 2014 | 38 | 2014 |
| New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy R Riveiro-Álvarez, YA Xie, MÁ López-Martínez, T Gambin, R Pérez-Carro, ... JAMA ophthalmology 133 (2), 133-139, 2015 | 31 | 2015 |
| Whole exome sequencing identifies an adult-onset case of methylmalonic aciduria and homocystinuria type C (cblC) with non-syndromic bull’s eye maculopathy FT Collison, Y Xie, T Gambin, S Jhangiani, D Muzny, R Gibbs, JR Lupski, ... Ophthalmic genetics 36 (3), 270-275, 2015 | 22 | 2015 |
| Simultaneous expression of ABCA4 and GPR143 mutations: a complex phenotypic manifestation W Lee, K Schuerch, Y Xie, J Zernant, SH Tsang, JR Sparrow, R Allikmets Investigative Ophthalmology & Visual Science 57 (7), 3409-3415, 2016 | 7 | 2016 |
| Mutations in spliceosome-associated protein homolog CWC27 lead to a spectrum of syndromic and nonsydromic retinal degeneration disease R Chen, Y Xie, H Abouzeid, C Gordon, A Fiorentino, Z Sun, A Lehman, ... Investigative Ophthalmology & Visual Science 58 (8), 3818-3818, 2017 | | 2017 |
| This is a repository copy of Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. M Xu, YA Xie, H Abouzeid | | 2017 |
| Genetics of ABCA4-associated Diseases and Retinitis Pigmentosa Y Xie Columbia University, 2016 | | 2016 |
| Whole-exome sequencing in patients with STGD (ABCA4)-like phenotypes Y Xie, W Lee, SH Tsang, GA Fishman, FT Collison, R Riveiro-Alvarez, ... Investigative Ophthalmology & Visual Science 56 (7), 2863-2863, 2015 | | 2015 |
| RDH11, a new gene for autosomal recessive retinitis pigmentosa with syndromic features R Allikmets, Y Xie, W Lee, L Amaro-Quireza, T Gambin, SN Jhangiani, ... Investigative Ophthalmology & Visual Science 55 (13), 3266-3266, 2014 | | 2014 |
| CRX mutations in patients with phenotypes resembling Stargardt disease Y Xie, SH Tsang, C Ayuso, W Lee, SN Jhangiani, T Gambin, B Yuan, ... Investigative Ophthalmology & Visual Science 55 (13), 3256-3256, 2014 | | 2014 |
| Conformational Analysis of Selected Novel HIV-1 Protease Inhibitors Designed using Substrate Envelope Restrictions Y Xie, H Hollis, K Cunningham, C Parish ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY 238, 2009 | | 2009 |
Stephen H. TsangColumbia UniversityDirección de correo verificada de columbia.edu
