{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T14:43:22Z","timestamp":1778769802538,"version":"3.51.4"},"reference-count":66,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T00:00:00Z","timestamp":1716854400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Eye Research"],"published-print":{"date-parts":[[2024,7]]},"DOI":"10.1016\/j.exer.2024.109945","type":"journal-article","created":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T19:24:25Z","timestamp":1716924265000},"page":"109945","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan"],"prefix":"10.1016","volume":"244","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0316-5131","authenticated-orcid":false,"given":"Rabia","family":"Basharat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzanne E.","family":"de Bruijn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Zahid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim","family":"Rodenburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebekkah J.","family":"Hitti-Malin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Rodr\u00edguez-Hidalgo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica G.M.","family":"Boonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afeefa","family":"Jarral","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arif","family":"Mahmood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi","family":"Corominas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharqa","family":"Khalil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jawaid Ahmed","family":"Zai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghazanfar","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Ruiz-Ederra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Gilissen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frans P.M.","family":"Cremers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Ansar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daan M.","family":"Panneman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9038-0067","authenticated-orcid":false,"given":"Susanne","family":"Roosing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.exer.2024.109945_bib1","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1097\/GIM.0b013e3181ceb95d","article-title":"Homozygosity mapping: one more tool in the clinical geneticist's toolbox","volume":"12","author":"Alkuraya","year":"2010","journal-title":"Genet. Med."},{"key":"10.1016\/j.exer.2024.109945_bib2","first-page":"1","article-title":"Consanguineous marriages and their detrimental outcomes in Pakistan: an urgent need for appropriate measures","volume":"5","author":"Anzar","year":"2018","journal-title":"Int J Community Med Public Health"},{"key":"10.1016\/j.exer.2024.109945_bib3","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.preteyeres.2010.03.004","article-title":"The molecular basis of human retinal and vitreoretinal diseases","volume":"29","author":"Berger","year":"2010","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.exer.2024.109945_bib4","doi-asserted-by":"crossref","DOI":"10.1038\/srep13187","article-title":"Whole exome sequencing reveals mutations in known retinal disease genes in 33 out of 68 Israeli families with inherited retinopathies","volume":"5","author":"Beryozkin","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.exer.2024.109945_bib5","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ajhg.2016.12.003","article-title":"Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular Pathology of inherited retinal disease","volume":"100","author":"Carss","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib6","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1093\/bioinformatics\/btv710","article-title":"Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications","volume":"32","author":"Chen","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.exer.2024.109945_bib7","doi-asserted-by":"crossref","DOI":"10.3390\/genes8100256","article-title":"The genetic basis of pericentral retinitis pigmentosa-A form of mild retinitis pigmentosa","volume":"8","author":"Comander","year":"2017","journal-title":"Genes"},{"key":"10.1016\/j.exer.2024.109945_bib8","first-page":"1","article-title":"Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy","author":"da Palma","year":"2023","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.exer.2024.109945_bib9","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1744-9081-8-16","article-title":"Children with Usher syndrome: mental and behavioral disorders","volume":"8","author":"Dammeyer","year":"2012","journal-title":"Behav. Brain Funct."},{"key":"10.1016\/j.exer.2024.109945_bib10","article-title":"Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes","author":"de Bruijn","year":"2022","journal-title":"Genet. Med."},{"key":"10.1016\/j.exer.2024.109945_bib11","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1001\/archopht.125.7.932","article-title":"Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa","volume":"125","author":"den Hollander","year":"2007","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.exer.2024.109945_bib12","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/s41525-021-00261-1","article-title":"Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases","volume":"6","author":"Fadaie","year":"2021","journal-title":"NPJ Genom Med"},{"key":"10.1016\/j.exer.2024.109945_bib13","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1136\/jmedgenet-2020-107626","article-title":"BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa","volume":"59","author":"Fadaie","year":"2022","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib14","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1038\/ng.2361","article-title":"NMNAT1 mutations cause Leber congenital amaurosis","volume":"44","author":"Falk","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib15","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Genomes Project","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.exer.2024.109945_bib16","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1002\/(SICI)1096-8628(19980707)78:3<226::AID-AJMG3>3.0.CO;2-N","article-title":"High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an Iranian founding population","volume":"78","author":"Ghiasvand","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib17","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1126\/science.185.4154.862","article-title":"Amino acid difference formula to help explain protein evolution","volume":"185","author":"Grantham","year":"1974","journal-title":"Science"},{"key":"10.1016\/j.exer.2024.109945_bib18","first-page":"3742","article-title":"Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)","volume":"24","author":"Haer-Wigman","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib19","article-title":"Paediatrics and Child Health","volume":"30","author":"Henderson","year":"2019","journal-title":"Inherited retinal dystrophies"},{"key":"10.1016\/j.exer.2024.109945_bib20","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1101\/gr.147686.112","article-title":"Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation","volume":"23","author":"Hiatt","year":"2013","journal-title":"Genome Res."},{"key":"10.1016\/j.exer.2024.109945_bib21","doi-asserted-by":"crossref","first-page":"2234","DOI":"10.1002\/humu.24489","article-title":"Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases","volume":"43","author":"Hitti-Malin","year":"2022","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.exer.2024.109945_bib22","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1086\/508294","article-title":"Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)","volume":"79","author":"Hrebicek","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib23","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: an ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib24","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.exer.2024.109945_bib25","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s12886-021-01852-3","article-title":"Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy","volume":"21","author":"Jia","year":"2021","journal-title":"BMC Ophthalmol."},{"key":"10.1016\/j.exer.2024.109945_bib26","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.exer.2024.109945_bib27","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/S0378-1119(98)00611-8","article-title":"Analysis of the 5' regulatory region of the human Norrie's disease gene: evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression","volume":"227","author":"Kenyon","year":"1999","journal-title":"Gene"},{"key":"10.1016\/j.exer.2024.109945_bib28","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1093\/hmg\/ddr509","article-title":"Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects","volume":"21","author":"Khan","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib29","first-page":"12","article-title":"Clinical and genetic characteristics of Korean congenital stationary night blindness patients","author":"Kim","year":"2021","journal-title":"Genes"},{"key":"10.1016\/j.exer.2024.109945_bib30","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/ajmg.a.20070","article-title":"Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families","volume":"119A","author":"Kliemann","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib31","doi-asserted-by":"crossref","first-page":"462","DOI":"10.3109\/13816810.2015.1120316","article-title":"Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy","volume":"37","author":"Kondo","year":"2016","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.exer.2024.109945_bib32","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.1167\/iovs.17-21424","article-title":"Homozygosity mapping and genetic analysis of autosomal recessive retinal dystrophies in 144 consanguineous Pakistani families","volume":"58","author":"Li","year":"2017","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2024.109945_bib33","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1167\/iovs.08-2589","article-title":"Mutation survey of known LCA genes and loci in the Saudi Arabian population","volume":"50","author":"Li","year":"2009","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2024.109945_bib34","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0136561","article-title":"Investigating the molecular basis of retinal degeneration in a familial cohort of Pakistani decent by exome sequencing","volume":"10","author":"Maranhao","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.exer.2024.109945_bib35","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0119806","article-title":"Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from Pakistan","volume":"10","author":"Maria","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.exer.2024.109945_bib36","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1093\/hmg\/9.1.27","article-title":"A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration","volume":"9","author":"Maw","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib37","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.40.9.641","article-title":"The genetics of inherited macular dystrophies","volume":"40","author":"Michaelides","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib38","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1038\/sj.eye.6702843","article-title":"Molecular genetics of infantile-onset retinal dystrophies","volume":"21","author":"Moradi","year":"2007","journal-title":"Eye"},{"key":"10.1016\/j.exer.2024.109945_bib39","article-title":"A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023","author":"Munir","year":"2023","journal-title":"Research Square PREPRINT (Version 1)"},{"key":"10.1016\/j.exer.2024.109945_bib40","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature10423","article-title":"Deep sequencing reveals 50 novel genes for recessive cognitive disorders","volume":"478","author":"Najmabadi","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.exer.2024.109945_bib41","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/0039-6257(88)90085-9","article-title":"Retinitis pigmentosa","volume":"33","author":"Pagon","year":"1988","journal-title":"Surv. Ophthalmol."},{"key":"10.1016\/j.exer.2024.109945_bib42","first-page":"57","article-title":"Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia","volume":"28","author":"Panagiotou","year":"2022","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2024.109945_bib43","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2023.1112270","article-title":"Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis","volume":"11","author":"Panneman","year":"2023","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.exer.2024.109945_bib44","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1038\/s41598-021-81093-y","article-title":"Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications","volume":"11","author":"Perea-Romero","year":"2021","journal-title":"Sci. Rep."},{"key":"10.1016\/j.exer.2024.109945_bib45","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1101\/gr.097857.109","article-title":"Detection of nonneutral substitution rates on mammalian phylogenies","volume":"20","author":"Pollard","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.exer.2024.109945_bib46","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1007\/s13258-021-01070-7","article-title":"Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability","volume":"43","author":"Rasool","year":"2021","journal-title":"Genes Genomics"},{"key":"10.1016\/j.exer.2024.109945_bib47","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1038\/ejhg.2014.266","article-title":"Challenges and solutions for gene identification in the presence of familial locus heterogeneity","volume":"23","author":"Rehman","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib48","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.exer.2024.109945_bib49","article-title":"Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction","volume":"4","author":"Reurink","year":"2023","journal-title":"HGG Adv"},{"key":"10.1016\/j.exer.2024.109945_bib50","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1002\/humu.20790","article-title":"Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia","volume":"29","author":"Reuter","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.exer.2024.109945_bib51","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.exer.2024.109945_bib52","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1093\/bioinformatics\/btw163","article-title":"Canvas: versatile and scalable detection of copy number variants","volume":"32","author":"Roller","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.exer.2024.109945_bib53","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1007\/s00439-018-1928-6","article-title":"Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability","volume":"137","author":"Santos-Cortez","year":"2018","journal-title":"Hum. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib54","doi-asserted-by":"crossref","first-page":"9965","DOI":"10.1038\/srep09965","article-title":"Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies","volume":"5","author":"Saqib","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.exer.2024.109945_bib55","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1002\/ajmg.c.31822","article-title":"A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis","volume":"184","author":"Schiff","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.exer.2024.109945_bib56","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1038\/ejhg.2014.136","article-title":"Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy","volume":"23","author":"Shaikh","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib57","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1038\/nbt1117-998","article-title":"First AAV gene therapy poised for landmark approval","volume":"35","author":"Smalley","year":"2017","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.exer.2024.109945_bib58","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1053\/j.gastro.2022.08.041","article-title":"Noncoding aberrations in mismatch repair genes underlie a substantial part of the missing heritability in lynch syndrome","volume":"163","author":"Te Paske","year":"2022","journal-title":"Gastroenterology"},{"key":"10.1016\/j.exer.2024.109945_bib59","first-page":"480","article-title":"Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR","volume":"28","author":"Trang","year":"2022","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2024.109945_bib60","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/978-3-319-95046-4_26","article-title":"Leber congenital amaurosis","volume":"1085","author":"Tsang","year":"2018","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.exer.2024.109945_bib61","doi-asserted-by":"crossref","first-page":"11 10 1","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr Protoc Bioinformatics"},{"key":"10.1016\/j.exer.2024.109945_bib62","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","article-title":"Non-syndromic retinitis pigmentosa","volume":"66","author":"Verbakel","year":"2018","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.exer.2024.109945_bib63","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1086\/323613","article-title":"CNGA3 mutations in hereditary cone photoreceptor disorders","volume":"69","author":"Wissinger","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2024.109945_bib64","doi-asserted-by":"crossref","first-page":"349","DOI":"10.3389\/fnins.2019.00349","article-title":"Neurological diseases with autism spectrum disorder: role of ASD risk genes","volume":"13","author":"Xiong","year":"2019","journal-title":"Front. Neurosci."},{"key":"10.1016\/j.exer.2024.109945_bib65","first-page":"2908","article-title":"Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice","volume":"118","author":"Yang","year":"2008","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.exer.2024.109945_bib66","doi-asserted-by":"crossref","first-page":"104765","DOI":"10.1016\/j.ejmg.2023.104765","article-title":"Explanations for the discrepancy between variant frequency and homozygous disease occurrence: lessons from Ashkenazi Jewish data","volume":"66","author":"Zlotogora","year":"2023","journal-title":"Eur. J. Med. Genet."}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483524001660?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483524001660?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T21:37:56Z","timestamp":1719265076000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014483524001660"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":66,"alternative-id":["S0014483524001660"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2024.109945","relation":{},"ISSN":["0014-4835"],"issn-type":[{"value":"0014-4835","type":"print"}],"subject":[],"published":{"date-parts":[[2024,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan","name":"articletitle","label":"Article Title"},{"value":"Experimental Eye Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.exer.2024.109945","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"109945"}}