Heckenlively, John R.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., et al. (2016) · Nature Genetics

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 1,544

Retinal degeneration mutants in the mouse

Chang, B., Hawes, N. L., Hurd, R. E., Davisson, M. T., Nusinowitz, S., & Heckenlively, J. R. (2002) · Vision Research

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 840

Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration

Chen, W., Stambolian, D., Edwards, A. O., Branham, K. E., Othman, M., Jakobsdottir, J., Tosakulwong, N., Pericak-Vance, M. A., Campochiaro, P. A., Klein, M. L., et al. (2010) · Proceedings of the National Academy of Sciences

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 506

Effective gene therapy with nonintegrating lentiviral vectors

Yáñez-Muñoz, R. J., Balaggan, K. S., MacNeil, A., Howe, S. J., Schmidt, M., Smith, A. J., Buch, P., MacLaren, R. E., Anderson, P. N., Barker, S. E., et al. (2006) · Nature Medicine

Virus-based gene therapy researchRetinal Development and Disorders

Cited by 460

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hübner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Rüschendorf, F., Heckenlively, J., et al. (2004) · Nature Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 246

Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older

Grover, S., Fishman, G. A., Anderson, R. J., Tozatti, M. S. V., Heckenlively, J. R., Weleber, R. G., Edwards, A. O., & Brown, J. (1999) · Ophthalmology

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 235

A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse

Akhmedov, N. B., Piriev, N. I., Chang, B., Rapoport, A. L., Hawes, N. L., Nishina, P. M., Nusinowitz, S., Heckenlively, J. R., Roderick, T. H., Kozak, C. A., et al. (2000) · Proceedings of the National Academy of Sciences

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 221

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Wang, X., Wang, H., Sun, V., Tuan, H.-F., Keser, V., Wang, K., Ren, H., Lopez, I., Zaneveld, J. E., Siddiqui, S., et al. (2013) · Journal of Medical Genetics

Retinal Development and DisordersGenomics and Rare Diseases

Cited by 159

Cone Photoreceptor Function Loss-3, a Novel Mouse Model of Achromatopsia Due to a Mutation in Gnat2

Chang, B., Dacey, M. S., Hawes, N. L., Hitchcock, P. F., Milam, A. H., Atmaca-Sonmez, P., Nusinowitz, S., & Heckenlively, J. R. (2006) · Investigative Opthalmology & Visual Science

Retinal Development and DisordersPhotoreceptor and optogenetics research

Cited by 157

Antioxidant or neurotrophic factor treatment preserves function in a mouse model of neovascularization-associated oxidative stress

Dorrell, M. I., Aguilar, E., Jacobson, R., Yanes, O., Gariano, R., Heckenlively, J., Banin, E., Ramirez, G. A., Gasmi, M., Bird, A., et al. (2009) · Journal of Clinical Investigation

Retinal Diseases and TreatmentsRetinal Development and Disorders

Cited by 127

Mouse models of age-related macular degeneration

Elizabeth Rakoczy, P., Yu, M. J. T., Nusinowitz, S., Chang, B., & Heckenlively, J. R. (2006) · Experimental Eye Research

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 107

High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population

Collin, R. W. J., van den Born, L. I., Klevering, B. J., de Castro-Miró, M., Littink, K. W., Arimadyo, K., Azam, M., Yazar, V., Zonneveld, M. N., Paun, C. C., et al. (2011) · Investigative Opthalmology & Visual Science

Retinal Development and DisordersGenomics and Rare Diseases

Cited by 79

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Strunz, T., Lauwen, S., Kiel, C., International AMD Genomics Consortium (IAMDGC), Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., et al. (2020) · Scientific Reports

Genetic Associations and EpidemiologyRetinal Diseases and Treatments

Cited by 60

Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene

Chang, B., Mandal, M. N. A., Chavali, V. R. M., Hawes, N. L., Khan, N. W., Hurd, R. E., Smith, R. S., Davisson, M. L., Kopplin, L., Klein, B. E. K., et al. (2008) · Human Molecular Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 30

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

Wu, D. M., Khanna, H., Atmaca-Sonmez, P., Sieving, P. A., Branham, K., Othman, M., Swaroop, A., Daiger, S. P., & Heckenlively, J. R. (2010) · Eye

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 28