Year |
Citation |
Score |
2012 |
Mullins RF, Kuehn MH, Radu RA, Enriquez GS, East JS, Schindler EI, Travis GH, Stone EM. Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization. Investigative Ophthalmology & Visual Science. 53: 1883-94. PMID 22395892 DOI: 10.1167/Iovs.12-9477 |
0.481 |
|
2011 |
Davis LK, Meyer KJ, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Sheffield VC, et al. Copy number variations and primary open-angle glaucoma. Investigative Ophthalmology & Visual Science. 52: 7122-33. PMID 21310917 DOI: 10.1167/Iovs.10-5606 |
0.502 |
|
2011 |
Meyer KJ, Davis LK, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Stone EM, et al. Genome-wide analysis of copy number variants in age-related macular degeneration. Human Genetics. 129: 91-100. PMID 20981449 DOI: 10.1007/S00439-010-0904-6 |
0.517 |
|
2010 |
Schindler EI, Nylen EL, Ko AC, Affatigato LM, Heggen AC, Wang K, Sheffield VC, Stone EM. Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Human Molecular Genetics. 19: 3693-701. PMID 20647261 DOI: 10.1093/Hmg/Ddq284 |
0.46 |
|
2009 |
Philp AR, Jin M, Li S, Schindler EI, Iannaccone A, Lam BL, Weleber RG, Fishman GA, Jacobson SG, Mullins RF, Travis GH, Stone EM. Predicting the pathogenicity of RPE65 mutations. Human Mutation. 30: 1183-8. PMID 19431183 DOI: 10.1002/Humu.21033 |
0.441 |
|
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