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37071472,36114230,35713440,35128149,27067258,24144451,23946133,21850168,19800048,19503738,19172513,18334959,18000884,17546029,16082399,12642313,36369640,35334008,33686777,32428231,32214227,31429209,30537927,29673930,26352687,25778467,25775262,25153453,24474277,23661368,21602930,20104588,20079931,20065226,18936139,18826961,12567265,37240262,33957996,30285347,23567879,20301475,3627388,37982768,37804373,37762234,37762059,37761981,37732399,37715919,37644231,37625575,37569264,37547722,37541258,37525225,37506969,37466759,37440059,37440026,37440025,37440021,37371046,37351895,37327959,37239417,37127645,37084726,36982987,36975211,36950921,36871412,36830640,36804635,36769033,36762997,36740702,36717105,36656098,36627108,36619753,36595661,36580738,36495011,36493848,36481880,36469661,36436058,36429068,36426739,36413373,36322391,36225124,36219210,36128853,36115989,36099972,36084639,36084637,36074935,36041151,36011402,36004591,35915232,35840489,35806387,35791112,35748082,35701753,35588783,35569774,35551639,35477418,35456422,35416119,35383196,35379979,35314386,35272565,35255174,35240325,35213022,35205388,35121194,35101627,35098484,35065964,35026968,35006499,35001204,34946856,34884448,34821467,34809537,34653402,34531550,34492281,34470921,34464742,34445569,34440435,34410070,34289237,34281261,34216980,34158306,34157943,34080099,34069580,34057656,34048777,34003923,33975254,33970760,33926102,33907365,33838313,33808129,33795869,33784790,33712480,33712029,33689657,33689629,33684911,33677999,33670832,33670772,33668384,33658649,33595255,33579689,33539922,33513359,33512896,33394965,33387055,33309881,33308271,33306870,33277529,33261050,33136237,33109612,33105651,33074024,33067476,33039432,32993386,32976546,32865313,32864823,32856788,32855876,32821499,32811265,32799588,32741234,32736544,32714643,32689861,32689858,32641690,32614312,32565670,32507954,32475352,32437550,32363976,32312421,32293666,32255808,32218477,32214115,32189222,32175942,32165824,32149547,32141364,32139166,32088401,32083505,32059734,32036247,32014860,32009068,32000842,31957135,31908400,31884617,31884613,31884610,31884605,31884595,31884591,31878136,31864384,31857428,31836589,31786783,31736247,31734136,31704230,31671202,31639339,31630094,31626798,31618092,31595490,31580392,31576779,31567747,31470097,31424981,31348989,31342828,31284566,31282760,31273949,31247521,31237438,31212307,31190471,31146917,31113566,31103025,31091803,31087526,31056263,30996589,30979730,30924391,30870047,30846767,30820146,30783978,30783971,30726412,30686507,30664785,30600744,30578499,30576320,30559420,30425282,30374144,30366342,30358434,30355138,30345694,30335549,30260717,30257863,30242358,30193310,30170104,30166529,30134391,30107658,30090012,30087219,30055151,30054723,30040511,30025081,30004997,29932012,29869534,29856367,29844330,29781739,29771326,29734148,29721967,29721952,29721936,29721931,29570997,29568065,29559409,29548835,29542350,29530780,29525873,29518907,29506236,29414951,29398085,29391521,29332120,29322253,29305715,29259527,29259518,29219953,29203866,29198720,29193763,29193673,29188511,29184169,29178642,29149824,29133760,29097191,29068479,29062221,29061346,29057663,29033008,28973376,28971364,28966547,28856832,28819299,28812413,28754419,28739921,28700940,28689169,28685406,28619647,28540421,28513254,28510626,28474714,28471114,28456785,28453600,28403437,28378769,28369829,28355658,28341475,28237426,28224801,28212877,28186610,28161916,28127548,28109959,28095138,28089909,28041994,28035529,27905547,27881908,27880076,27862925,27860478,27809489,27788217,27686653,27653967,27645772,27488072,27488066,27475985,27453555,27422788,27383656,27375279,27328943,27317651,27245521,27225770,27203561,27151457,27116508,27102010,27010695,26987071,26957854,26872607,26820066,26757501,26751519,26684444,26626312,26611576,26605849,26567984,26529047,26502313,26501365,26464178,26427456,26427455,26427408,26390089,26364624,26316326,26293194,26290027,26267445,26253563,26216056,26180100,26165328,26147992,26139345,26061163,26059304,26047050,26018082,25988908,25936984,25921210,25814828,25799540,25761237,25752820,25666713,25616661,25587058,25574898,25545056,25537204,25536112,25503696,25495949,25477517,25445212,25413954,25398945,25383945,25377065,25350305,25286304,25270190,25257057,25217415,25148430,25096270,25074776,25052312,25044745,25030840,24997176,24981858,24940029,24931191,24903488,24849605,24830548,24811962,24791140,24771178,24767827,24752437,24715753,24702846,24702845,24702842,24698627,24674142,24664764,24664739,24664696,24618324[uid]

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Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme.

Faber S, Mercey O, Junger K, Garanto A, May-Simera H, Ueffing M, Collin RW, Boldt K, Guichard P, Hamel V, Roepman R. Faber S, et al. JCI Insight. 2023 May 22;8(10):e169162. doi: 10.1172/jci.insight.169162. JCI Insight. 2023. PMID: 37071472 Free PMC article.

The interaction between LC8 and LCA5 reveals a novel oligomerization function of LC8 in the ciliary-centrosome system.

Szaniszló T, Fülöp M, Pajkos M, Erdős G, Kovács RÁ, Vadászi H, Kardos J, Dosztányi Z. Szaniszló T, et al. Sci Rep. 2022 Sep 16;12(1):15623. doi: 10.1038/s41598-022-19454-4. Sci Rep. 2022. PMID: 36114230 Free PMC article.

Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign.

Yue F, Zhang H, Luo L, Liu R, Jing J. Yue F, et al. Medicine (Baltimore). 2022 Jun 17;101(24):e29369. doi: 10.1097/MD.0000000000029369. Medicine (Baltimore). 2022. PMID: 35713440 Free PMC article.

Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis.

O'Connor K, O'Neil EC, Aleman TS. O'Connor K, et al. Am J Ophthalmol Case Rep. 2022 Jan 20;25:101260. doi: 10.1016/j.ajoc.2022.101260. eCollection 2022 Mar. Am J Ophthalmol Case Rep. 2022. PMID: 35128149 Free PMC article.

Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy.

Chen X, Sheng X, Sun X, Zhang Y, Jiang C, Li H, Ding S, Liu Y, Liu W, Li Z, Zhao C. Chen X, et al. Sci Rep. 2016 Apr 12;6:24357. doi: 10.1038/srep24357. Sci Rep. 2016. PMID: 27067258 Free PMC article.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FPM, Carracedo A, Ayuso C. Corton M, et al. Ophthalmology. 2014 Jan;121(1):399-407. doi: 10.1016/j.ophtha.2013.08.028. Epub 2013 Oct 18. Ophthalmology. 2014. PMID: 24144451

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities); Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B. Mackay DS, et al. Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23946133 Free PMC article.

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ. Ahmad A, et al. Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16. Mol Vis. 2011. PMID: 21850168 Free PMC article.

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP. Coene KL, et al. Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002. Am J Hum Genet. 2009. PMID: 19800048 Free PMC article.

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.

Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Swider M, Herrera W, Stone EM. Jacobson SG, et al. Mol Vis. 2009 Jun 2;15:1098-106. Mol Vis. 2009. PMID: 19503738 Free PMC article.

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