Photoreceptor Cilia and Retinal Ciliopathies

Retinitis pigmentosa

Hartong, D. T., Berson, E. L., & Dryja, T. P. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69740-7 · Cited by 2,924 · see citing works

A draft map of the human proteome

Kim, M.-S., Pinto, S. M., Getnet, D., Nirujogi, R. S., Manda, S. S., Chaerkady, R., Madugundu, A. K., Kelkar, D. S., Isserlin, R., Jain, S., et al. (2014) · Nature · doi:10.1038/nature13302 · Cited by 2,198 · see citing works

The primary cilium: a signalling centre during vertebrate development

Goetz, S. C., & Anderson, K. V. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2774 · Cited by 1,824 · see citing works

Molecular Genetics of Human Color Vision: The Genes Encoding Blue, Green, and Red Pigments

Nathans, J., Thomas, D., & Hogness, D. S. (1986) · Science · doi:10.1126/science.2937147 · Cited by 1,732 · see citing works

Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice

Larsson, N.-G., Wang, J., Wilhelmsson, H., Oldfors, A., Rustin, P., Lewandoski, M., Barsh, G. S., & Clayton, D. A. (1998) · Nature Genetics · doi:10.1038/ng0398-231 · Cited by 1,594 · see citing works

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0397-236 · Cited by 1,435 · cited 5× · see citing works

Intraflagellar transport

Rosenbaum, J. L., & Witman, G. B. (2002) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm952 · Cited by 1,423 · see citing works

The renewal of photoreceptor cell outer segments

Young, R. W. (1967) · The Journal of Cell Biology · doi:10.1083/jcb.33.1.61 · Cited by 1,184 · see citing works

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

Dryja, T. P., McGee, T. L., Reichel, E., Hahn, L. B., Cowley, G. S., Yandell, D. W., Sandberg, M. A., & Berson, E. L. (1990) · Nature · doi:10.1038/343364a0 · Cited by 1,072 · see citing works

Defective myosin VIIA gene responsible for Usher syndrome type IB

Well, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., et al. (1995) · Nature · doi:10.1038/374060a0 · Cited by 1,068 · see citing works

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Beales, P. L., Elcioglu, N. H., Woolf, A. S., Parker, D., & Flinter, F. A. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.6.437 · Cited by 968 · see citing works

Retinitis pigmentosa

Hamel, C. (2006) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-1-40 · Cited by 962 · see citing works

Leber congenital amaurosis: Genes, proteins and disease mechanisms

den Hollander, A. I., Roepman, R., Koenekoop, R. K., & Cremers, F. P. M. (2008) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.05.003 · Cited by 811 · see citing works

Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci

Kajiwara, K., Berson, E. L., & Dryja, T. P. (1994) · Science · doi:10.1126/science.8202715 · Cited by 774 · see citing works

Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene

Li, J. B., Gerdes, J. M., Haycraft, C. J., Fan, Y., Teslovich, T. M., May‐Simera, H., Li, H., Blacque, O. E., Li, L., Leitch, C. C., et al. (2004) · Cell · doi:10.1016/s0092-8674(04)00450-7 · Cited by 760 · see citing works

Rhodopsin dimers in native disc membranes

Fotiadis, D., Liang, Y., Filipek, S., Saperstein, D. A., Engel, A., & Palczewski, K. (2003) · Nature · doi:10.1038/421127a · Cited by 749 · see citing works

Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Ansley, S. J., Badano, J. L., Blacque, O. E., Hill, J. E., Hoskins, B. E., Leitch, C. C., Kim, J. C., Ross, A. J., Eichers, E. R., Teslovich, T. M., et al. (2003) · Nature · doi:10.1038/nature02030 · Cited by 684 · see citing works

Ciliopathies: an expanding disease spectrum

Waters, A. M., & Beales, P. L. (2011) · Pediatric Nephrology · doi:10.1007/s00467-010-1731-7 · Cited by 676 · see citing works

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

den Hollander, A. I., Koenekoop, R. K., Yzer, S., López, I., Arends, M. L., Voesenek, K., Zonneveld, M. N., Strom, T. M., Meitinger, T., Brunner, H. G., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/507318 · Cited by 669 · see citing works

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., & Lupski, J. R. (2001) · Science · doi:10.1126/science.1063525 · Cited by 655 · see citing works

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

García-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C., Josifova, D. J., et al. (2011) · Nature Genetics · doi:10.1038/ng.891 · Cited by 627 · see citing works

Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa

McLaughlin, M. E., Sandberg, M. A., Berson, E. L., & Dryja, T. P. (1993) · Nature Genetics · doi:10.1038/ng0693-130 · Cited by 594 · see citing works

The molecular basis of human retinal and vitreoretinal diseases

Berger, W., Kloeckener‐Gruissem, B., & Neidhardt, J. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.03.004 · Cited by 589 · see citing works

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Sayer, J. A., Otto, E. A., O’Toole, J. F., Nürnberg, G., Kennedy, M. A., Becker, C., Hennies, H. C., Helou, J., Attanasio, M., Fausett, B. V., et al. (2006) · Nature Genetics · doi:10.1038/ng1786 · Cited by 571 · see citing works

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

Cremers, F. P. M. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.355 · Cited by 547 · see citing works

Chapter Two Intraflagellar Transport (IFT)

Pedersen, L. B., & Rosenbaum, J. L. (2008) · Current Topics in Developmental Biology · doi:10.1016/s0070-2153(08)00802-8 · Cited by 521 · see citing works

Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup

Lamb, T. D., Collin, S. P., & Pugh, E. N. (2007) · Nature reviews. Neuroscience · doi:10.1038/nrn2283 · Cited by 498 · see citing works

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., et al. (2007) · Nature Genetics · doi:10.1038/ng2039 · Cited by 495 · see citing works

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Bolz, H. J., von Brederlow, B., Ramı́rez, A., Bryda, E. C., Kutsche, K., Nothwang, H. G., Seeliger, M. W., Cabrera, M. D. C.-S., Vila, M. C., Molina, O. P., et al. (2001) · Nature Genetics · doi:10.1038/83667 · Cited by 495 · see citing works

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)

Meindl, A., Dry, K. L., Herrmann, K., Manson, F. D. C., Ciccodicola, A., Edgar, A. J., Carvalho, M. R. S., Achatz, H., Hellebrand, H., Lennon, A., et al. (1996) · Nature Genetics · doi:10.1038/ng0596-35 · Cited by 480 · see citing works

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

Kajiwara, K., Hahn, L. B., Mukai, S., Travis, G. H., Berson, E. L., & Dryja, T. P. (1991) · Nature · doi:10.1038/354480a0 · Cited by 470 · see citing works

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X.-Z., Gal, A., Salem, N., Mansour, A. M., Blanchard, S., Kobayashi, I., Keats, B. J. B., et al. (2000) · Nature Genetics · doi:10.1038/79171 · Cited by 469 · see citing works

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Perrault, I., Rozet, J., Calvas, P., Gerber, S., Camuzat, A., Dollfus, H., Châtelin, S., Souied, E. H., Ghazi, I., Leowski, C., et al. (1996) · Nature Genetics · doi:10.1038/ng1296-461 · Cited by 443 · see citing works

Homozygosity mapping with SNP arrays identifies TRIM32 , an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene ( BBS11 )

Chiang, A. P.-F., Beck, J. S., Yen, H.-J., Tayeh, M. K., Scheetz, T. E., Swiderski, R. E., Nishimura, D. Y., Braun, T. A., Kim, K. A., Huang, J., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0600158103 · Cited by 433 · see citing works

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

Palma, F. D., Holme, R. H., Bryda, E. C., Belyantseva, I. A., Pellegrino, R., Kachar, B., Steel, K. P., & Noben‐Trauth, K. (2001) · Nature Genetics · doi:10.1038/83660 · Cited by 430 · see citing works

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

Rosenfeld, P. J., Cowley, G. S., McGee, T. L., Sandberg, M. A., Berson, E. L., & Dryja, T. P. (1992) · Nature Genetics · doi:10.1038/ng0692-209 · Cited by 422 · see citing works

Disc morphogenesis in vertebrate photoreceptors

Steinberg, R. H., Fisher, S. K., & Anderson, D. H. (1980) · The Journal of Comparative Neurology · doi:10.1002/cne.901900307 · Cited by 414 · see citing works

Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

Ahmed, Z. M., Riazuddin, S., Bernstein, S. L., Ahmed, Z., Khan, S., Griffith, A. J., Morell, R. J., Friedman, T. B., Riazuddin, S. A., & Wilcox, E. R. (2001) · The American Journal of Human Genetics · doi:10.1086/321277 · Cited by 413 · see citing works

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

Ferland, R. J., Eyaid, W., Collura, R. V., Tully, L. D., Hill, R. S., Al-Nouri, D., Al-Rumayyan, A., Topcu, M., Gascon, G., Bodell, A., et al. (2004) · Nature Genetics · doi:10.1038/ng1419 · Cited by 408 · see citing works

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Leitch, C. C., Zaghloul, N. A., Davis, E. E., Stoetzel, C., Dı́az-Font, A., Rix, S., Alfadhel, M., Lewis, R. A., Eyaid, W., Banin, E., et al. (2008) · Nature Genetics · doi:10.1038/ng.97 · Cited by 406 · see citing works

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Collin, G. B., Marshall, J. D., Ikeda, A., So, W. V., Russell‐Eggitt, I., Maffei, P., Beck, S., Boerkoel, C. F., Sicolo, N., Martin, M., et al. (2002) · Nature Genetics · doi:10.1038/ng867 · Cited by 403 · see citing works

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Valente, E. M., Silhavy, J. L., Brancati, F., Barrano, G., Krishnaswami, S. R., Castori, M., Lancaster, M. A., Boltshauser, E., Boccone, L., Al‐Gazali, L., et al. (2006) · Nature Genetics · doi:10.1038/ng1805 · Cited by 403 · see citing works

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

Martı́nez-Mir, A., Paloma, E., Allikmets, R. L., Ayuso, C., del Río, T., Dean, M. C., Vilageliu, L., Gonzàlez‐Duarte, R., & Balcells, S. (1998) · Nature Genetics · doi:10.1038/ng0198-11 · Cited by 401 · see citing works

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O’Toole, J. F., Helou, J., Attanasio, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1520 · Cited by 399 · see citing works

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al‐Gazali, L., Sztriha, L., Bayoumi, R., Zaki, M. S., Aleem, A. K. A., Rosti, R. Ö., et al. (2009) · Nature Genetics · doi:10.1038/ng.423 · Cited by 397 · see citing works

Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

Eudy, J. D., Weston, M. D., Yao, S.-F., Hoover, D. M., Rehm, H. L., Ma-Edmonds, M., Yan, D. L. S., Ahmad, I., Cheng, J. J., Ayuso, C., et al. (1998) · Science · doi:10.1126/science.280.5370.1753 · Cited by 393 · see citing works

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S., Bertrand, J. Y., Audollent, S., Attié‐Bitach, T., Holden, K. R., Dobyns, W. B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.023 · Cited by 391 · see citing works

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.028 · Cited by 374 · see citing works

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Program, N. C. S., Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., et al. (2011) · Nature Genetics · doi:10.1038/ng.756 · Cited by 370 · see citing works

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Mykytyn, K., Nishimura, D. Y., Searby, C. C., Shastri, M., Yen, H.-J., Beck, J. S., Braun, T. A., Streb, L. M., Cornier, A. S., Cox, G. F., et al. (2002) · Nature Genetics · doi:10.1038/ng935 · Cited by 360 · see citing works

The ultrastructure of the outer segments of rods and cones of the eye as revealed by the electron microscope

Sjöstrand, F. S. (1953) · Journal of Cellular and Comparative Physiology · doi:10.1002/jcp.1030420103 · Cited by 359 · see citing works

The proteome of the mouse photoreceptor sensory cilium complex

Liu, Q., Tan, G., Levenkova, N., Li, T., Pugh, E. N., Rux, J. J., Speicher, D. W., & Pierce, E. A. (2007) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m700054-mcp200 · Cited by 359 · see citing works

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

Kim, S. K., Shindo, A., Park, T. J., Oh, E. C. T., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attié‐Bitach, T., Katsanis, N., et al. (2010) · Science · doi:10.1126/science.1191184 · Cited by 348 · see citing works

Massive Light-Driven Translocation of Transducin between the Two Major Compartments of Rod Cells

Sokolov, M., Lyubarsky, A., Strissel, K. J., Savchenko, A. B., Govardovskii, V. I., Pugh, E. N., & Arshavsky, V. Y. (2002) · Neuron · doi:10.1016/s0896-6273(02)00636-0 · Cited by 347 · see citing works

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R. H., Rump, A., Hardisty, R., Blanchard, S., Coimbra, R. S., et al. (2003) · Nature Genetics · doi:10.1038/ng1208 · Cited by 343 · see citing works

Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II

Weston, M. D., Luijendijk, M. W. J., Humphrey, K., Möller, C., & Kimberling, W. J. (2004) · The American Journal of Human Genetics · doi:10.1086/381685 · Cited by 343 · see citing works

Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel

Kohl, S., Marx, T., Giddings, I., Jägle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., & Wissinger, B. (1998) · Nature Genetics · doi:10.1038/935 · Cited by 340 · see citing works

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

Dryja, T. P., Berson, E. L., Rao, V. R., & Oprian, D. D. (1993) · Nature Genetics · doi:10.1038/ng0793-280 · Cited by 340 · see citing works

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Ruiz‐Pérez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D. I., Woods‐Townsend, K., King, L. M., Francomano, C. A., Freisinger, P., Spranger, S., et al. (2000) · Nature Genetics · doi:10.1038/73508 · Cited by 339 · see citing works

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Jacoby, M., Cox, J. J., Gayral, S., Hampshire, D. J., Ayub, M., Blockmans, M., Pernot, E., Kisseleva, M. V., Compère, P., Schiffmann, S. N., et al. (2009) · Nature Genetics · doi:10.1038/ng.427 · Cited by 339 · see citing works

Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Ferrante, M. I., Feather, S. A., Bulfone, A., Wright, V. J., Ghiani, M., Selicorni, A., Gammaro, L., Scolari, F., Woolf, A. S., Odent, S., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/318802 · Cited by 337 · see citing works

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

Beales, P. L., Bland, E., Tobin, J. L., Bacchelli, C., Tüysüz, B., Hill, J. E., Rix, S., Pearson, C. G., Kai, M., Hartley, J., et al. (2007) · Nature Genetics · doi:10.1038/ng2038 · Cited by 336 · see citing works

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

Fan, Y., Esmail, M. A., Ansley, S. J., Blacque, O. E., Boroevich, K. A., Ross, A. J., Moore, S., Badano, J. L., May‐Simera, H., Compton, D. S., et al. (2004) · Nature Genetics · doi:10.1038/ng1414 · Cited by 336 · see citing works

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

Weleber, R. G. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110097033 · Cited by 330 · see citing works

"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation

Maria, B. L., Hoang, K. B. N., Tusa, R. J., Mancuso, A., Hamed, L. M., Quisling, R. G., ten Hove, M., Fennell, E. B., Booth‐Jones, M., Ringdahl, D. M., et al. (1997) · Journal of Child Neurology · doi:10.1177/088307389701200703 · Cited by 330 · see citing works

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

Katsanis, N., Beales, P. L., Woods, M. O., Lewis, R. A., Green, J. S., Parfrey, P. S., Ansley, S. J., Davidson, W. S., & Lupski, J. R. (2000) · Nature Genetics · doi:10.1038/79201 · Cited by 326 · see citing works

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein

Travis, G. H., Sutcliffe, J. G., & Bok, D. (1991) · Neuron · doi:10.1016/0896-6273(91)90122-g · Cited by 325 · see citing works

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Bergmann, C., Fliegauf, M., Brüchle, N. O., Frank, V., Olbrich, H., Kirschner, J., Schermer, B., Schmedding, I., Kispert, A., Kränzlin, B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.02.017 · Cited by 324 · see citing works

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Otto, E. A., Hurd, T. W., Airik, R., Chaki, M., Zhou, W., Stoetzel, C., Patil, S. B., Levy, S., Ghosh, A. K., Murga‐Zamalloa, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.662 · Cited by 319 · see citing works

Phototransduction, Dark Adaptation, and Rhodopsin Regeneration The Proctor Lecture

Lamb, T. D., & Pugh, E. N. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0849 · Cited by 312 · see citing works

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Puffenberger, E. G., Jinks, R. N., Sougnez, C. L., Cibulskis, K., Willert, R. A., Achilly, N. P., Cassidy, R. P., Fiorentini, C. J., Heiken, K. F., Lawrence, J. J., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0028936 · Cited by 308 · see citing works

Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration.

Arikawa, K., Molday, L. L., Molday, R. S., & Williams, D. S. (1992) · The Journal of Cell Biology · doi:10.1083/jcb.116.3.659 · Cited by 308 · see citing works

Peripherin. A rim-specific membrane protein of rod outer segment discs.

Molday, R. S., Hicks, D. R., & Molday, L. L. (1987) · PubMed · Cited by 305 · see citing works

A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

Fuchs, S., Nakazawa, M., Maw, M. A., Tamai, M., Oguchi, Y., & Gal, A. (1995) · Nature Genetics · doi:10.1038/ng0795-360 · Cited by 301 · see citing works

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21

Kohl, S. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.14.2107 · Cited by 299 · see citing works

Myosin VIIa Participates in Opsin Transport through The Photoreceptor Cilium

Liu, X., Udovichenko, I. P., Brown, S. D. M., Steel, K. P., & Williams, D. S. (1999) · Journal of Neuroscience · doi:10.1523/jneurosci.19-15-06267.1999 · Cited by 294 · see citing works

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Dixon‐Salazar, T., Silhavy, J. L., Marsh, S., Louie, C. M., Scott, L. C., Gururaj, A., Al‐Gazali, L., Al-Tawari, A. A., Kayserili, H., Sztriha, L., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/425985 · Cited by 293 · see citing works

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

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