Year |
Citation |
Score |
2019 |
Liu B, Calton MA, Abell NS, Benchorin G, Gloudemans MJ, Chen M, Hu J, Li X, Balliu B, Bok D, Montgomery SB, Vollrath D. Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms. Communications Biology. 2: 186. PMID 31123710 DOI: 10.1038/s42003-019-0430-6 |
0.329 |
|
2019 |
Huang J, Gu S, Chen M, Zhang SJ, Jiang Z, Chen X, Jiang C, Liu G, Radu RA, Sun X, Vollrath D, Du J, Yan B, Zhao C. Abnormal mTORC1 signaling leads to retinal pigment epithelium degeneration. Theranostics. 9: 1170-1180. PMID 30867823 DOI: 10.7150/Thno.26281 |
0.356 |
|
2018 |
Bailey JNC, Gharahkhani P, Kang JH, Butkiewicz M, Sullivan DA, Weinreb RN, Aschard H, Allingham RR, Ashley-Koch A, Lee RK, Moroi SE, Brilliant MH, Wollstein G, Schuman JS, Fingert JH, ... ... Vollrath D, et al. Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets. Investigative Ophthalmology & Visual Science. 59: 629-636. PMID 29392307 DOI: 10.1167/Iovs.17-22708 |
0.332 |
|
2017 |
Aschard H, Kang JH, Iglesias AI, Hysi P, Cooke Bailey JN, Khawaja AP, Allingham RR, Ashley-Koch A, Lee RK, Moroi SE, Brilliant MH, Wollstein G, Schuman JS, Fingert JH, Budenz DL, ... ... Vollrath D, et al. Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis. European Journal of Human Genetics : Ejhg. PMID 28853718 DOI: 10.1038/Ejhg.2017.136 |
0.302 |
|
2016 |
Khawaja AP, Cooke Bailey JN, Kang JH, Allingham RR, Hauser MA, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kraft P, Lee RK, Lichter PR, Liu Y, ... ... Vollrath D, et al. Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses. Investigative Ophthalmology & Visual Science. 57: 5046-5052. PMID 27661856 DOI: 10.1167/Iovs.16-20017 |
0.312 |
|
2016 |
Ghazi NG, Abboud EB, Nowilaty SR, Alkuraya H, Alhommadi A, Cai H, Hou R, Deng WT, Boye SL, Almaghamsi A, Al Saikhan F, Al-Dhibi H, Birch D, Chung C, Colak D, ... ... Vollrath D, et al. Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial. Human Genetics. PMID 26825853 DOI: 10.1007/S00439-016-1637-Y |
0.356 |
|
2016 |
Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, Burdon KP, Aschard H, Chasman DI, Igo RP, Hysi PG, Glastonbury CA, Ashley-Koch A, Brilliant M, Brown AA, ... ... Vollrath D, et al. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nature Genetics. PMID 26752265 DOI: 10.1038/Ng.3482 |
0.324 |
|
2016 |
LaVail MM, Yasumura D, Matthes MT, Yang H, Hauswirth WW, Deng WT, Vollrath D. Gene Therapy for MERTK-Associated Retinal Degenerations. Advances in Experimental Medicine and Biology. 854: 487-93. PMID 26427450 DOI: 10.1007/978-3-319-17121-0_65 |
0.384 |
|
2015 |
Vollrath D, Yasumura D, Benchorin G, Matthes MT, Feng W, Nguyen NM, Sedano CD, Calton MA, LaVail MM. Tyro3 Modulates Mertk-Associated Retinal Degeneration. Plos Genetics. 11: e1005723. PMID 26656104 DOI: 10.1371/Journal.Pgen.1005723 |
0.46 |
|
2015 |
Liu Y, Chen X, Xu Q, Gao X, Tam PO, Zhao K, Zhang X, Chen LJ, Jia W, Zhao Q, Vollrath D, Pang CP, Zhao C. SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa. Scientific Reports. 5: 14867. PMID 26459573 DOI: 10.1038/Srep14867 |
0.428 |
|
2014 |
Liu Y, Garrett ME, Yaspan BL, Bailey JC, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert JH, Gaasterland D, Gaasterland T, Kang JH, Lee RK, Lichter P, Moroi SE, ... ... Vollrath D, et al. DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma. Investigative Ophthalmology & Visual Science. 55: 8251-8. PMID 25414181 DOI: 10.1167/Iovs.14-15712 |
0.365 |
|
2014 |
Bailey JN, Yaspan BL, Pasquale LR, Hauser MA, Kang JH, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kraft P, Lee RK, Lichter PR, ... ... Vollrath D, et al. Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma. Human Genetics. 133: 1319-30. PMID 25037249 DOI: 10.1007/S00439-014-1468-7 |
0.318 |
|
2014 |
Loomis SJ, Kang JH, Weinreb RN, Yaspan BL, Cooke Bailey JN, Gaasterland D, Gaasterland T, Lee RK, Lichter PR, Budenz DL, Liu Y, Realini T, Friedman DS, McCarty CA, Moroi SE, ... ... Vollrath D, et al. Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. Ophthalmology. 121: 508-16. PMID 24572674 DOI: 10.1016/J.Ophtha.2013.09.012 |
0.32 |
|
2014 |
Chen X, Liu Y, Sheng X, Tam PO, Zhao K, Chen X, Rong W, Liu Y, Liu X, Pan X, Chen LJ, Zhao Q, Vollrath D, Pang CP, Zhao C. PRPF4 mutations cause autosomal dominant retinitis pigmentosa. Human Molecular Genetics. 23: 2926-39. PMID 24419317 DOI: 10.1093/Hmg/Ddu005 |
0.393 |
|
2013 |
Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X, Kang X, Pan X, Liu Y, Jiang C, Shi H, Chen X, Rong W, Chen LJ, Lai TY, ... ... Vollrath D, et al. Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. Investigative Ophthalmology & Visual Science. 54: 2186-97. PMID 23462753 DOI: 10.1167/Iovs.12-10967 |
0.421 |
|
2013 |
Pasquale LR, Loomis SJ, Kang JH, Yaspan BL, Abdrabou W, Budenz DL, Chen TC, Delbono E, Friedman DS, Gaasterland D, Gaasterland T, Grosskreutz CL, Lee RK, Lichter PR, Liu Y, ... ... Vollrath D, et al. CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. American Journal of Ophthalmology. 155: 342-353.e5. PMID 23111177 DOI: 10.1016/J.Ajo.2012.07.023 |
0.331 |
|
2012 |
Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Hawthorne F, Budenz DL, Friedman DS, Gaasterland D, Haines J, Kang JH, Lee R, Lichter P, Liu Y, ... ... Vollrath D, et al. Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Investigative Ophthalmology & Visual Science. 53: 4468-74. PMID 22661486 DOI: 10.1167/Iovs.12-9784 |
0.332 |
|
2012 |
Wiggs JL, Yaspan BL, Hauser MA, Kang JH, Allingham RR, Olson LM, Abdrabou W, Fan BJ, Wang DY, Brodeur W, Budenz DL, Caprioli J, Crenshaw A, Crooks K, Delbono E, ... ... Vollrath D, et al. Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. Plos Genetics. 8: e1002654. PMID 22570617 DOI: 10.1371/Journal.Pgen.1002654 |
0.322 |
|
2012 |
Deng WT, Dinculescu A, Li Q, Boye SL, Li J, Gorbatyuk MS, Pang J, Chiodo VA, Matthes MT, Yasumura D, Liu L, Alkuraya FS, Zhang K, Vollrath D, LaVail MM, et al. Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats. Investigative Ophthalmology & Visual Science. 53: 1895-904. PMID 22408006 DOI: 10.1167/Iovs.11-8831 |
0.402 |
|
2012 |
Orwig SD, Perry CW, Kim LY, Turnage KC, Zhang R, Vollrath D, Schmidt-Krey I, Lieberman RL. Amyloid fibril formation by the glaucoma-associated olfactomedin domain of myocilin. Journal of Molecular Biology. 421: 242-55. PMID 22197377 DOI: 10.1016/J.Jmb.2011.12.016 |
0.308 |
|
2011 |
Maddox DM, Hicks WL, Vollrath D, LaVail MM, Naggert JK, Nishina PM. An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration. Investigative Ophthalmology & Visual Science. 52: 4703-9. PMID 21436282 DOI: 10.1167/Iovs.10-7077 |
0.427 |
|
2011 |
Iacovelli J, Zhao C, Wolkow N, Veldman P, Gollomp K, Ojha P, Lukinova N, King A, Feiner L, Esumi N, Zack DJ, Pierce EA, Vollrath D, Dunaief JL. Generation of Cre transgenic mice with postnatal RPE-specific ocular expression. Investigative Ophthalmology & Visual Science. 52: 1378-83. PMID 21212186 DOI: 10.1167/Iovs.10-6347 |
0.319 |
|
2011 |
Zhao C, Yasumura D, Li X, Matthes M, Lloyd M, Nielsen G, Ahern K, Snyder M, Bok D, Dunaief JL, LaVail MM, Vollrath D. mTOR-mediated dedifferentiation of the retinal pigment epithelium initiates photoreceptor degeneration in mice. The Journal of Clinical Investigation. 121: 369-83. PMID 21135502 DOI: 10.1172/Jci44303 |
0.356 |
|
2010 |
Burns JN, Orwig SD, Harris JL, Watkins JD, Vollrath D, Lieberman RL. Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones. Acs Chemical Biology. 5: 477-87. PMID 20334347 DOI: 10.1021/Cb900282E |
0.316 |
|
2009 |
Strick DJ, Feng W, Vollrath D. Mertk drives myosin II redistribution during retinal pigment epithelial phagocytosis. Investigative Ophthalmology & Visual Science. 50: 2427-35. PMID 19117932 DOI: 10.1167/Iovs.08-3058 |
0.321 |
|
2008 |
Lavail MM, Nishikawa S, Duncan JL, Yang H, Matthes MT, Yasumura D, Vollrath D, Overbeek PA, Ash JD, Robinson ML. Sustained delivery of NT-3 from lens fiber cells in transgenic mice reveals specificity of neuroprotection in retinal degenerations. The Journal of Comparative Neurology. 511: 724-35. PMID 18925574 DOI: 10.1002/Cne.21858 |
0.319 |
|
2007 |
Paskowitz DM, Greenberg KP, Yasumura D, Grimm D, Yang H, Duncan JL, Kay MA, Lavail MM, Flannery JG, Vollrath D. Rapid and stable knockdown of an endogenous gene in retinal pigment epithelium. Human Gene Therapy. 18: 871-80. PMID 17892416 DOI: 10.1089/Hum.2007.065 |
0.399 |
|
2006 |
Lin RJ, Blumenkranz MS, Binkley J, Wu K, Vollrath D. A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy. American Journal of Ophthalmology. 142: 839-48. PMID 16989765 DOI: 10.1016/J.Ajo.2006.06.003 |
0.351 |
|
2006 |
Vollrath D, Liu Y. Temperature sensitive secretion of mutant myocilins. Experimental Eye Research. 82: 1030-6. PMID 16297911 DOI: 10.1016/J.Exer.2005.10.007 |
0.315 |
|
2005 |
Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT, Downs CA, Kijek TG, Johnson JM, Trager EH, Rozsa FW, ... ... Vollrath D, et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. American Journal of Human Genetics. 77: 694-708. PMID 16252232 DOI: 10.1086/497348 |
0.414 |
|
2005 |
Chalberg TW, Genise HL, Vollrath D, Calos MP. phiC31 integrase confers genomic integration and long-term transgene expression in rat retina. Investigative Ophthalmology & Visual Science. 46: 2140-6. PMID 15914635 DOI: 10.1167/Iovs.04-1252 |
0.361 |
|
2004 |
McHenry CL, Liu Y, Feng W, Nair AR, Feathers KL, Ding X, Gal A, Vollrath D, Sieving PA, Thompson DA. MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. Investigative Ophthalmology & Visual Science. 45: 1456-63. PMID 15111602 DOI: 10.1167/Iovs.03-0909 |
0.405 |
|
2004 |
Liu Y, Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Human Molecular Genetics. 13: 1193-204. PMID 15069026 DOI: 10.1093/Hmg/Ddh128 |
0.367 |
|
2004 |
Chalberg TW, Genise HL, Vollrath D, Calos MP. 1056. PhiC31 Integrase for Long-Term Non-Viral Gene Therapy in Rat Retina Molecular Therapy. 9. DOI: 10.1016/J.Ymthe.2004.06.1001 |
0.366 |
|
2003 |
Duncan JL, LaVail MM, Yasumura D, Matthes MT, Yang H, Trautmann N, Chappelow AV, Feng W, Earp HS, Matsushima GK, Vollrath D. An RCS-like retinal dystrophy phenotype in mer knockout mice. Investigative Ophthalmology & Visual Science. 44: 826-38. PMID 12556419 DOI: 10.1167/Iovs.02-0438 |
0.386 |
|
2002 |
Feng W, Yasumura D, Matthes MT, LaVail MM, Vollrath D. Mertk triggers uptake of photoreceptor outer segments during phagocytosis by cultured retinal pigment epithelial cells. The Journal of Biological Chemistry. 277: 17016-22. PMID 11861639 DOI: 10.1074/Jbc.M107876200 |
0.375 |
|
2002 |
Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. American Journal of Human Genetics. 70: 224-9. PMID 11727200 DOI: 10.1086/338455 |
0.387 |
|
2001 |
Wiggs JL, Vollrath D. Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC. Archives of Ophthalmology. 119: 1674-1678. PMID 11709019 DOI: 10.1001/Archopht.119.11.1674 |
0.409 |
|
2001 |
Vollrath D, Feng W, Duncan JL, Yasumura D, D'Cruz PM, Chappelow A, Matthes MT, Kay MA, LaVail MM. Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proceedings of the National Academy of Sciences of the United States of America. 98: 12584-9. PMID 11592982 DOI: 10.1073/Pnas.221364198 |
0.413 |
|
2000 |
Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nature Genetics. 26: 270-271. PMID 11062461 DOI: 10.1038/81555 |
0.413 |
|
2000 |
Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, Clarke MS, Schwartz AL, Downs CA, Vollrath D, Richards JE. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. American Journal of Ophthalmology. 130: 165-77. PMID 11004290 DOI: 10.1016/S0002-9394(00)00536-5 |
0.337 |
|
2000 |
Shen P, Wang F, Underhill PA, Franco C, Yang WH, Roxas A, Sung R, Lin AA, Hyman RW, Vollrath D, Davis RW, Cavalli-Sforza LL, Oefner PJ. Population genetic implications from sequence variation in four Y chromosome genes. Proceedings of the National Academy of Sciences of the United States of America. 97: 7354-9. PMID 10861003 DOI: 10.1073/Pnas.97.13.7354 |
0.335 |
|
2000 |
D'Cruz PM, Yasumura D, Weir J, Matthes MT, Abderrahim H, LaVail MM, Vollrath D. Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat. Human Molecular Genetics. 9: 645-51. PMID 10699188 DOI: 10.1093/Hmg/9.4.645 |
0.401 |
|
1999 |
Zhou Z, Vollrath D. A Cellular Assay Distinguishes Normal and Mutant TIGR/Myocilin Protein Human Molecular Genetics. 8: 2221-2228. PMID 10545602 DOI: 10.1093/Hmg/8.12.2221 |
0.379 |
|
1999 |
Vollrath D, Jaramillo-Babb VL. A Sequence-Ready BAC Clone Contig of a 2.2-Mb Segment of Human Chromosome 1q24 Genome Research. 9: 150-157. DOI: 10.1101/Gr.9.2.150 |
0.302 |
|
1998 |
Othman MI, Sullivan SA, Skuta GL, Cockrell DA, Stringham HM, Downs CA, Fornés A, Mick A, Boehnke M, Vollrath D, Richards JE. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle- closure glaucoma maps to chromosome 11 American Journal of Human Genetics. 63: 1411-1418. PMID 9792868 DOI: 10.1086/302113 |
0.378 |
|
1998 |
Abderrahim H, Jaramillo-Babb VL, Zhou Z, Vollrath D. Characterization of the murine TIGR/myocilin gene Mammalian Genome. 9: 673-675. PMID 9680392 DOI: 10.1007/S003359900844 |
0.319 |
|
1998 |
Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome Human Molecular Genetics. 7: 1091-1098. PMID 9618165 DOI: 10.1093/Hmg/7.7.1091 |
0.316 |
|
1997 |
Underhill PA, Jin L, Lin AA, Mehdi SQ, Jenkins T, Vollrath D, Davis RW, Cavalli-Sforza LL, Oefner PJ. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Research. 7: 996-1005. PMID 9331370 DOI: 10.1101/Gr.7.10.996 |
0.322 |
|
1996 |
Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, Rodriguez-Tomé P, Aggarwal A, Bajorek E, Bentolila S, Birren BB, Butler A, Castle AB, Chiannilkulchai N, ... ... Vollrath D, et al. A gene map of the human genome. Science (New York, N.Y.). 274: 540-6. PMID 8849440 DOI: 10.1126/Science.274.5287.540 |
0.335 |
|
1988 |
Vollrath D, Nathans J, Davis RW. Tandem array of human visual pigment genes at Xq28. Science (New York, N.Y.). 240: 1669-72. PMID 2837827 DOI: 10.1126/Science.2837827 |
0.344 |
|
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