An efficient inducible RPE-Selective cre transgenic mouse line. Experimental eye research
Chen, M., Kim, L., Lu, C. W., Zeng, H., Vollrath, D.
2020: 108370

AMP-independent activator of AMPK for treatment of mitochondrial disorders. PloS one
Moore, T., Yanes, R. E., Calton, M. A., Vollrath, D., Enns, G. M., Cowan, T. M.
2020; 15 (10): e0240517

Depletion of Mitochondrial DNA in Differentiated Retinal Pigment Epithelial Cells. Scientific reports
Hu, X., Calton, M. A., Tang, S., Vollrath, D.
2019; 9 (1): 15355

Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis. JAMA ophthalmology
Fan, B. J., Bailey, J. C., Igo, R. P., Kang, J. H., Boumenna, T., et al.

Highly Differentiated Human Fetal RPE Cultures Are Resistant to the Accumulation and Toxicity of Lipofuscin-Like Material. Investigative ophthalmology & visual science
Zhang, Q., Presswalla, F., Calton, M., Charniga, C., Stern, J., Temple, S., Vollrath, D., Zacks, D. N., Ali, R. R., Thompson, D. A., Miller, J. M.
2019; 60 (10): 3468–79

Abnormal mTORC1 signaling leads to retinal pigment epithelium degeneration. Theranostics
Huang, J., Gu, S., Chen, M., Zhang, S. J., Jiang, Z., Chen, X., Jiang, C., Liu, G., Radu, R. A., Sun, X., Vollrath, D., Du, J., Yan, B., Zhao, C.
2019; 9 (4): 1170-1180

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (vol 9, 1864, 2018) NATURE COMMUNICATIONS
Iglesias, A. I., Mishra, A., Vitart, V., Bykhovskaya, Y., Hoehn, R., Springelkamp, H., Cuellar-Partida, G., et al.
2019; 10: 155

Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms. Communications biology
Liu, B., Calton, M. A., Abell, N. S., Benchorin, G., Gloudemans, M. J., Chen, M., Hu, J., Li, X., Balliu, B., Bok, D., Montgomery, S. B., Vollrath, D.
2019; 2: 186

Method for measuring extracellular flux from intact polarized epithelial monolayers MOLECULAR VISION
Calton, M. A., Beaulieu, M. O., Benchorin, G., Vollrath, D.
2018; 24: 425–33

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: analysis in Two Large Datasets INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Bailey, J., Gharahkhani, P., Kang, J. H., Butkiewicz, M., Sullivan, D. A., Weinreb, R. N., Aschard, H., et al.
2018; 59 (2): 629–36

Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis EUROPEAN JOURNAL OF HUMAN GENETICS
Aschard, H., Kang, J. H., Iglesias, A. I., Hysi, P., Bailey, J., Khawaja, A. P., Allingham, R., Ashley-Koch, A., et al.
2017; 25 (11): 1261–67

Assessment of Murine Retinal Function by Electroretinography BIO-PROTOCOL
Benchorin, G., Calton, M. A., Beaulieu, M. O., Vollrath, D.
2017; 7 (7)

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY
Pasquale, L. R., Aschard, H., Kang, J. H., Bailey, J. N., Lindstrom, S., Chasman, D. I., Christen, W. G., et al.
2017; 24 (2): 150-156

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using GeneSet Analyses INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Khawaja, A. P., Bailey, J. N., Kang, J. H., Allingham, R. R., Hauser, M. A., Brilliant, M., Budenz, D. L., Christen, et al.
2016; 57 (11): 5046-5052

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Liu, Y., Bailey, J. C., Helwa, I., Dismuke, W. M., Cai, J., Drewry, M., Brilliant, M. H., Budenz, D. L., Christen, W. G., et al.
2016; 57 (10): 4528-4535

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
Ghazi, N. G., Abboud, E. B., Nowilaty, S. R., Alkuraya, H., Alhommadi, A., Cai, H., Hou, R., Deng, W., Boye, S. L., Almaghamsi, A., Al Saikhan, F., Al-Dhibi, H., Birch, D., Chung, C., Colak, D., LaVail, M. M., Vollrath, D., Erger, K., Wang, W., Conlon, T., Zhang, K., Hauswirth, W., Alkuraya, F. S.
2016; 135 (3): 327-343

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nature genetics
Bailey, J. N., Loomis, S. J., Kang, J. H., Allingham, R. R., Gharahkhani, P., Khor, C. C., Burdon, K. P., Aschard, H., et al.
2016; 48 (2): 189-194

Gene Therapy for MERTK-Associated Retinal Degenerations. Advances in experimental medicine and biology
LaVail, M. M., Yasumura, D., Matthes, M. T., Yang, H., Hauswirth, W. W., Deng, W., Vollrath, D.
2016; 854: 487-493

The mTOR Kinase Inhibitor INK128 Blunts Migration of Cultured Retinal Pigment Epithelial Cells. Advances in experimental medicine and biology
Calton, M. A., Vollrath, D.
2016; 854: 709-715

Tyro3 Modulates Mertk-Associated Retinal Degeneration PLOS GENETICS
Vollrath, D., Yasumura, D., Benchorin, G., Matthes, M. T., Feng, W., Nguyen, N. M., Sedano, C. D., Calton, M. A., LaVail, M. M.
2015; 11 (12)

SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa SCIENTIFIC REPORTS
Liu, Y., Chen, X., Xu, Q., Gao, X., Tam, P. O., Zhao, K., Zhang, X., Chen, L. J., Jia, W., Zhao, Q., Vollrath, D., Pang, C. P., Zhao, C.
2015; 5

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma. Investigative ophthalmology & visual science
Liu, Y., Garrett, M. E., Yaspan, B. L., Bailey, J. C., Loomis, S. J., Brilliant, M., Budenz, D. L., Christen, W. G., et al.
2014; 55 (12): 8251-8258

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma
Bailey, J. N., Yaspan, B. L., Pasquale, L. R., Hauser, M. A., Kang, J. H., Loomis, S. J., Brilliant, M., Budenz, D. L., Christen, W. G., et al.
2014; 133 (10): 1319-1330

Intrastriatal Transplantation of Retinal Pigment Epithelial Cells for the Treatment of Parkinson Disease: In Vivo Longitudinal Molecular Imaging with (18)F-P3BZA PET/CT. Radiology
Bu, L., Li, R., Liu, H., Feng, W., Xiong, X., Zhao, H., Vollrath, D., Shen, B., Cheng, Z.
2014; 272 (1): 174-183

PRPF4 mutations cause autosomal dominant retinitis pigmentosa HUMAN MOLECULAR GENETICS
Chen, X., Liu, Y., Sheng, X., Tam, P. O., Zhao, K., Chen, X., Rong, W., Liu, Y., Liu, X., Pan, X., Chen, L. J., Zhao, Q., Vollrath, D., Pang, C. P., Zhao, C.
2014; 23 (11): 2926-2939

Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma EYE
Kang, J. H., Loomis, S. J., Yaspan, B. L., BAILEY, J. C., Weinreb, R. N., Lee, R. K., Lichter, P. R., Budenz, D. L., Liu, et al.
2014; 28 (6): 662-671

Association of CAV1/CAV2 Genomic Variants with Primary Open-Angle Glaucoma Overall and by Gender and Pattern of Visual Field Loss OPHTHALMOLOGY
Loomis, S. J., Kang, J. H., Weinreb, R. N., Yaspan, B. L., Bailey, J. N., Gaasterland, D., Gaasterland, T., et al.
2014; 121 (2): 508-516

Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States MOLECULAR VISION
Pasquale, L. R., Loomis, S. J., Weinreb, R. N., Kang, J. H., Yaspan, B. L., Bailey, J. C., Gaasterland, D., Gaasterland, T., et al.
2013; 19: 1471-1481

A Novel Homozygous BEST1 Mutation Correlates with Complex Ocular Phenotypes OPHTHALMOLOGY
Sheng, X., Chen, X., Zhao, K., Liu, Y., Vollrath, D., Zhao, C.
2013; 120 (7): 1511-+

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
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, L. J., Lai, T. Y., Liu, Y., Wang, X., Yuan, S., Liu, Q., Vollrath, D., Pang, C. P., Zhao, C.
2013; 54 (3): 2186-2197

CDKN2B-AS1 Genotype-Glaucoma Feature Correlations in Primary Open-Angle Glaucoma Patients From the United States AMERICAN JOURNAL OF OPHTHALMOLOGY
Pasquale, L. R., Loomis, S. J., Kang, J. H., Yaspan, B. L., Abdrabou, W., Budenz, D. L., Chen, T. C., DelBono, E., Friedman, D. S, et al.
2013; 155 (2): 342-353

Amyloid Fibril Formation by the Glaucoma-Associated Olfactomedin Domain of Myocilin JOURNAL OF MOLECULAR BIOLOGY
Orwig, S. D., Perry, C. W., Kim, L. Y., Turnage, K. C., Zhang, R., Vollrath, D., Schmidt-Krey, I., Lieberman, R. L.
2012; 421 (2-3): 242-255

Genome-Wide Analysis of Central Corneal Thickness in Primary Open-Angle Glaucoma Cases in the NEIGHBOR and GLAUGEN Consortia INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE Ulmer, M., Li, J., Yaspan, B. L., Ozel, A. B., Richards, J. E., Moroi, S. E., Hawthorne, F., Budenz, D. L., Friedman, D. S., Gaasterland, D., et al.
2012; 53 (8): 4468-4474

Tyrosine-Mutant AAV8 Delivery of Human MERTK Provides Long-Term Retinal Preservation in RCS Rats INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Deng, W., Dinculescu, A., Li, Q., Boye, S. L., Li, J., Gorbatyuk, M. S., Pang, J., Chiodo, V. A., Matthes, M. T., Yasumura, D., Liu, L., Alkuraya, F. S., Zhang, K., Vollrath, D., LaVail, M. M., Hauswirth, W. W.
2012; 53 (4): 1895-1904

Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma PLOS GENETICS
Wiggs, J. L., Yapan, B. L., Hauser, M. A., Kane, J. H., Allingham, R. R., Olson, L. M., Abdrabou, W., Fan, B. J., Wang, D. Y., et al.
2012; 8 (4): 413-424

An ENU-Induced Mutation in the Mertk Gene (Mertk(nmf12)) Leads to a Slow Form of Retinal Degeneration INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Maddox, D. M., Hicks, W. L., Vollrath, D., LaVail, M. M., Naggert, J. K., Nishina, P. M.
2011; 52 (7): 4703-4709

mTOR pathway activation in age-related retinal disease AGING-US
Zhao, C., Vollrath, D.
2011; 3 (4): 346-347

Generation of Cre Transgenic Mice with Postnatal RPE-Specific Ocular Expression INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Iacovelli, J., Zhao, C., Wolkow, N., Veldman, P., Gollomp, K., Ojha, P., Lukinova, N., King, A., Feiner, L., Esumi, N., Zack, D. J., Pierce, E. A., Vollrath, D., Dunaief, J. L.
2011; 52 (3): 1378-1383

mTOR-mediated dedifferentiation of the retinal pigment epithelium initiates photoreceptor degeneration in mice JOURNAL OF CLINICAL INVESTIGATION
Zhao, C., Yasumura, D., Li, X., Matthes, M., Lloyd, M., Nielsen, G., Ahern, K., Snyder, M., Bok, D., Dunaief, J. L., LaVail, M. M., Vollrath, D.
2011; 121 (1): 369-383

Strick, D. J., Vollrath, D.
2010; 91 (6): 786-787

Candidate genes for chromosomes 6 and 10 quantitative trait loci for age-related retinal degeneration in mice MOLECULAR VISION
Ogando, D. G., Dahlquist, K. D., Alizadeh, M., Kunchithapautham, K., Li, J., Yu, N., LaVail, M. M., Rohrer, B., Vollrath, D., Danciger, M.
2010; 16 (111-13): 1004-1018

Rescue of Glaucoma-Causing Mutant Myocilin Thermal Stability by Chemical Chaperones ACS CHEMICAL BIOLOGY
Burns, J. N., Orwig, S. D., Harris, J. L., Watkins, J. D., Vollrath, D., Lieberman, R. L.
2010; 5 (5): 477-487

Mertk Drives Myosin II Redistribution during Retinal Pigment Epithelial Phagocytosis INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Strick, D. J., Feng, W., Vollrath, D.
2009; 50 (5): 2427-2435

Sustained Delivery of NT-3 from Lens Fiber Cells in Transgenic Mice Reveals Specificity of Neuroprotection in Retinal Degenerations JOURNAL OF COMPARATIVE NEUROLOGY
LaVail, M. M., Nishikawa, S., Duncan, J. L., Yang, H., Matthes, M. T., Yasumura, D., Vollrath, D., Overbeek, P. A., Ash, J. D., Robinson, M. L.
2008; 511 (6): 724-735

Rapid and stable knockdown of an endogenous gene in retinal pigment epithelium HUMAN GENE THERAPY
Paskowitz, D. M., Greenberg, K. P., Yasumura, D., Grimm, D., Yang, H., Duncan, J. L., Kay, M. A., LaVail, M. M., Flannery, J. G., Vollrath, D.
2007; 18 (10): 871-880

Nail-patella syndrome and its association with glaucoma: a review of eight families BRITISH JOURNAL OF OPHTHALMOLOGY
Mimiwati, Z., Mackey, D. A., Craig, J. E., MacKinnon, J. R., Rait, J. L., Liebelt, J. E., Ayala-Lugo, R., Vollrath, D., Richards, J. E.
2006; 90 (12): 1505-1511

A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy AMERICAN JOURNAL OF OPHTHALMOLOGY
Lin, R. J., Blumenkranz, M. S., Binkley, J., Wu, K., Vollrath, D.
2006; 142 (5): 839-848

Temperature sensitive secretion of mutant myocilins EXPERIMENTAL EYE RESEARCH
Vollrath, D., Liu, Y.
2006; 82 (6): 1030-1036

Gene expression profile of human trabecular meshwork cells in response to long-term dexamethasone exposure MOLECULAR VISION
Rozsa, F. W., REED, D. M., Scott, K. M., Pawar, H., Moroi, S. E., Kijek, T. G., Krafchak, C. M., Othman, M. I., Vollrath, D., Elner, V. M., Richards, J. E.
2006; 12 (14-15): 125-141

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells AMERICAN JOURNAL OF HUMAN GENETICS
Krafchak, C. M., Pawar, H., Moroi, S. E., Sugar, A., Lichter, P. R., Mackey, D. A., Mian, S., Nairus, T., Elner, V., Schteingart, M. T., Downs, C. A., Kijek, T. G., Johnson, J. M., Trager, E. H., Rozsa, F. W., Mandal, M. N., Epstein, M. P., Vollrath, D., Ayyagari, R., Boehnke, M., Richards, J. E.
2005; 77 (5): 694-708

phi C31 integrase confers genomic integration and long-term transgene expression in rat retina INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Chalberg, T. W., Genise, H. L., Vollrath, D., Calos, M. P.
2005; 46 (6): 2140-2146

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma HUMAN MOLECULAR GENETICS
Liu, Y. H., Vollrath, D.
2004; 13 (11): 1193-1204

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: Loss of mutant protein function in transfected CeRs INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
McHenry, C. L., Liu, Y. H., Feng, W., Nair, A. R., Feathers, K. L., Ding, X. L., Gal, A., Vollrath, D., Sieving, P. A., Thompson, D. A.
2004; 45 (5): 1456-1463

An RCS-like retinal dystrophy phenotype in Mer knockout mice INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Duncan, J. L., LaVail, M. M., Yasumura, D., Matthes, M. T., Yang, H. D., Trautmann, N., Chappelow, A. V., Feng, W., Earp, H. S., Matsushima, G. K., Vollrath, D.
2003; 44 (2): 826-838

Mertk triggers uptake of photoreceptor outer segments during phagocytosis by cultured retinal pigment epithelial cells JOURNAL OF BIOLOGICAL CHEMISTRY
Feng, W., Yasumura, D., Matthes, M. T., LaVail, M. M., Vollrath, D.
2002; 277 (19): 17016-17022

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
Thompson, D. A., McHenry, C. L., Li, Y., Richards, J. E., Othman, M. I., Schwinger, E., Vollrath, D., Jacobson, S. G., Gal, A.
2002; 70 (1): 224-229

Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC ARCHIVES OF OPHTHALMOLOGY
Wiggs, J. L., Vollrath, D.
2001; 119 (11): 1674-1678

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
Vollrath, D., Feng, W., Duncan, J. L., Yasumura, D., D’Cruz, P. M., Chappelow, A., Matthes, M. T., Kay, M. A., LaVail, M. M.
2001; 98 (22): 12584-12589

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa NATURE GENETICS
Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., Jacobson, S. G., Apfelstedt-Sylla, E., Vollrath, D.
2000; 26 (3): 270-271

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma AMERICAN JOURNAL OF OPHTHALMOLOGY
Shimizu, S., Lichter, P. R., Johnson, A. T., Zhou, Z. H., Higashi, M., Gottfredsdottir, M., Othman, M., Moroi, S. E., Rozsa, F. W., Schertzer, R. M., Clarke, M. S., SCHWARTZ, A. L., Downs, C. A., Vollrath, D., Richards, J. E.
2000; 130 (2): 165-177

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat HUMAN MOLECULAR GENETICS
D’Cruz, P. M., Yasumura, D., Weir, J., Matthes, M. T., Abderrahim, H., LaVail, M. M., Vollrath, D.
2000; 9 (4): 645-651

A cellular assay distinguishes normal and mutant TIGR/myocilin protein HUMAN MOLECULAR GENETICS
Zhou, Z. H., Vollrath, D.
1999; 8 (12): 2221-2228

Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Allingham, R. R., Wiggs, J. L., De La Paz, M. A., Vollrath, D., Tallett, D. A., Broomer, B., Jones, K. H., del Bono, E. A., Kern, J., Patterson, K., Haines, J. L., Pericak-Vance, M. A.
1998; 39 (12): 2288-2295

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11 AMERICAN JOURNAL OF HUMAN GENETICS
Othman, M. I., Sullivan, S. A., Skuta, G. L., Cockrell, D. A., Stringham, H. M., Downs, C. A., Fornes, A., Mick, A., Boehnke, M., Vollrath, D., Richards, J. E.
1998; 63 (5): 1411-1418

Characterization of the murine TIGR/myocilin gene MAMMALIAN GENOME
Abderrahim, H., Jaramillo-Babb, V. L., Zhou, Z. H., Vollrath, D.
1998; 9 (8): 673-675

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome HUMAN MOLECULAR GENETICS
Vollrath, D., Jaramillo-Babb, V. L., Clough, M. V., McIntosh, I., Scott, K. M., Lichter, P. R., Richards, J. E.
1998; 7 (7): 1091-1098

Genome maps .7. The human transcript map SCIENCE
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