{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T03:20:49Z","timestamp":1783480849189,"version":"3.55.0"},"reference-count":59,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T00:00:00Z","timestamp":1741219200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012617","name":"Moorfields Eye Hospital NHS Foundation Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012617","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01 HG009141"],"award-info":[{"award-number":["R01 HG009141"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["UM1HG008900"],"award-info":[{"award-number":["UM1HG008900"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012360","name":"Heart of England NHS Foundation Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012360","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["NIH-P20GM139769"],"award-info":[{"award-number":["NIH-P20GM139769"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01EY012910"],"award-info":[{"award-number":["R01EY012910"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["P30EY014104"],"award-info":[{"award-number":["P30EY014104"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01EY026904"],"award-info":[{"award-number":["R01EY026904"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006260","name":"Technion-Israel Institute of Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006260","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000615","name":"Fight for Sight","doi-asserted-by":"publisher","award":["5045\/46"],"award-info":[{"award-number":["5045\/46"]}],"id":[{"id":"10.13039\/501100000615","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","award":["204285"],"award-info":[{"award-number":["204285"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000276","name":"Department of Health and Social Care","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014461","name":"NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust\/Institute of Cancer Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014461","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","award":["331\/24"],"award-info":[{"award-number":["331\/24"]}],"id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","award":["525\/19"],"award-info":[{"award-number":["525\/19"]}],"id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","award":["1778\/20"],"award-info":[{"award-number":["1778\/20"]}],"id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001116","name":"Foundation Fighting Blindness Inc","doi-asserted-by":"publisher","award":["EGI-GE-1218-0753-UCSD"],"award-info":[{"award-number":["EGI-GE-1218-0753-UCSD"]}],"id":[{"id":"10.13039\/100001116","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017645","name":"Moorfields Eye Charity","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100017645","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006544","name":"State of Israel Ministry of Health","doi-asserted-by":"publisher","award":["3-18611"],"award-info":[{"award-number":["3-18611"]}],"id":[{"id":"10.13039\/501100006544","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000765","name":"University College London","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000765","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2025,6]]},"DOI":"10.1016\/j.gim.2025.101401","type":"journal-article","created":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T13:04:41Z","timestamp":1741611881000},"page":"101401","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy"],"prefix":"10.1016","volume":"27","author":[{"given":"Miriam","family":"Ehrenberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maayan","family":"Avraham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandeep Sarma","family":"Asodu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail R.","family":"Moye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Sangermano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah","family":"Rizel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahleel","family":"Ali-Nasser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ifat","family":"Sher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Gurwitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine R.","family":"Chao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Rivera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Webster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Rivolta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadas","family":"Newman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eran","family":"Pras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ygal","family":"Rotenstreich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyal","family":"Banin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric A.","family":"Pierce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinah","family":"Zur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gavin","family":"Arno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kinga M.","family":"Bujakowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siying","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dror","family":"Sharon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3035-4654","authenticated-orcid":false,"given":"Tamar","family":"Ben-Yosef","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.gim.2025.101401_bib1","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1167\/tvst.7.4.6","article-title":"Inherited retinal degenerations: current landscape and knowledge gaps","volume":"7","author":"Duncan","year":"2018","journal-title":"Transl Vis Sci Technol"},{"key":"10.1016\/j.gim.2025.101401_bib2","doi-asserted-by":"crossref","DOI":"10.1016\/j.preteyeres.2024.101244","volume":"100","author":"Georgiou","year":"2024","journal-title":"Prog Retin Eye Res"},{"key":"10.1016\/j.gim.2025.101401_bib3","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"},{"issue":"4","key":"10.1016\/j.gim.2025.101401_bib4","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.ophtha.2011.10.011","article-title":"Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy","volume":"119","author":"Thiadens","year":"2012","journal-title":"Ophthalmology"},{"issue":"4","key":"10.1016\/j.gim.2025.101401_bib5","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1136\/bjophthalmol-2019-315086","article-title":"Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options","volume":"104","author":"Rahman","year":"2020","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.gim.2025.101401_bib6","article-title":"Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments","volume":"10","author":"Mitsios","year":"2018","journal-title":"Ther Adv Ophthalmol"},{"issue":"6294","key":"10.1016\/j.gim.2025.101401_bib7","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/347674a0","article-title":"Cloning of a gene that is rearranged in patients with choroideraemia","volume":"347","author":"Cremers","year":"1990","journal-title":"Nature"},{"issue":"19","key":"10.1016\/j.gim.2025.101401_bib8","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1056\/NEJM199011083231903","article-title":"Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa","volume":"323","author":"Dryja","year":"1990","journal-title":"N Engl J Med"},{"issue":"21","key":"10.1016\/j.gim.2025.101401_bib9","doi-asserted-by":"crossref","DOI":"10.3390\/ijms232113467","article-title":"Inherited retinal diseases","volume":"23","author":"Ben-Yosef","year":"2022","journal-title":"Int J Mol Sci"},{"issue":"1","key":"10.1016\/j.gim.2025.101401_bib10","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"},{"issue":"2","key":"10.1016\/j.gim.2025.101401_bib11","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1167\/iovs.63.2.11","article-title":"Impact of next generation sequencing in unraveling the genetics of 1036 Spanish families with inherited macular dystrophies","volume":"63","author":"Del Pozo-Valero","year":"2022","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"9","key":"10.1016\/j.gim.2025.101401_bib12","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1016\/j.ophtha.2017.04.008","article-title":"Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease","volume":"124","author":"Stone","year":"2017","journal-title":"Ophthalmology"},{"issue":"2","key":"10.1016\/j.gim.2025.101401_bib13","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.gim.2021.09.015","article-title":"The importance of automation in genetic diagnosis: lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)","volume":"24","author":"Zampaglione","year":"2022","journal-title":"Genet Med"},{"issue":"7993","key":"10.1016\/j.gim.2025.101401_bib14","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/s41586-023-06045-0","article-title":"A genomic mutational constraint map using variation in 76,156 human genomes","volume":"625","author":"Chen","year":"2024","journal-title":"Nature"},{"issue":"20","key":"10.1016\/j.gim.2025.101401_bib15","doi-asserted-by":"crossref","first-page":"1868","DOI":"10.1056\/NEJMoa2035790","article-title":"100,000 genomes pilot on rare-disease diagnosis in health care \u2013 preliminary report","volume":"385","author":"Smedley","year":"2021","journal-title":"N Engl J Med"},{"key":"10.1016\/j.gim.2025.101401_bib16","series-title":"The National Genomics Research Library","year":"2020"},{"issue":"11","key":"10.1016\/j.gim.2025.101401_bib17","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1038\/s41588-019-0528-2","article-title":"PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels","volume":"51","author":"Martin","year":"2019","journal-title":"Nat Genet"},{"issue":"9","key":"10.1016\/j.gim.2025.101401_bib19","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1038\/s41588-023-01449-0","article-title":"GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data","volume":"55","author":"Babadi","year":"2023","journal-title":"Nat Genet"},{"issue":"5","key":"10.1016\/j.gim.2025.101401_bib20","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1016\/j.ajhg.2024.03.008","article-title":"Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease","volume":"111","author":"Lemire","year":"2024","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.gim.2025.101401_bib21","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1038\/s41467-020-20584-4","article-title":"AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data","volume":"12","author":"Quinodoz","year":"2021","journal-title":"Nat Commun"},{"issue":"4","key":"10.1016\/j.gim.2025.101401_bib22","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"},{"issue":"17","key":"10.1016\/j.gim.2025.101401_bib23","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkr407","article-title":"Predicting the functional impact of protein mutations: application to cancer genomics","volume":"39","author":"Reva","year":"2011","journal-title":"Nucleic Acids Res"},{"issue":"7","key":"10.1016\/j.gim.2025.101401_bib24","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"issue":"4","key":"10.1016\/j.gim.2025.101401_bib25","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"4","key":"10.1016\/j.gim.2025.101401_bib26","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"issue":"1","key":"10.1016\/j.gim.2025.101401_bib27","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/humu.22225","article-title":"Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models","volume":"34","author":"Shihab","year":"2013","journal-title":"Hum Mutat"},{"issue":"5","key":"10.1016\/j.gim.2025.101401_bib28","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1093\/bioinformatics\/btu703","article-title":"DANN: a deep learning approach for annotating the pathogenicity of genetic variants","volume":"31","author":"Quang","year":"2015","journal-title":"Bioinformatics"},{"issue":"8","key":"10.1016\/j.gim.2025.101401_bib29","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1093\/hmg\/ddu733","article-title":"Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies","volume":"24","author":"Dong","year":"2015","journal-title":"Hum Mol Genet"},{"issue":"8","key":"10.1016\/j.gim.2025.101401_bib30","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1038\/s41588-018-0167-z","article-title":"Predicting the clinical impact of human mutation with deep neural networks","volume":"50","author":"Sundaram","year":"2018","journal-title":"Nat Genet"},{"issue":"3","key":"10.1016\/j.gim.2025.101401_bib31","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/humu.23158","article-title":"PERCH: a unified framework for disease gene prioritization","volume":"38","author":"Feng","year":"2017","journal-title":"Hum Mutat"},{"issue":"3","key":"10.1016\/j.gim.2025.101401_bib32","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.gim.2025.101401_bib33","doi-asserted-by":"crossref","first-page":"366","DOI":"10.3389\/fgene.2018.00366","article-title":"Computational tools for splicing defect prediction in breast\/ovarian cancer genes: how efficient are they at predicting RNA alterations?","volume":"9","author":"Moles-Fern\u00e1ndez","year":"2018","journal-title":"Front Genet"},{"issue":"3","key":"10.1016\/j.gim.2025.101401_bib34","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/humu.22932","article-title":"dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs","volume":"37","author":"Liu","year":"2016","journal-title":"Hum Mutat"},{"issue":"1","key":"10.1016\/j.gim.2025.101401_bib35","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/S0968-0004(98)01336-X","article-title":"PSORT: a program for detecting sorting signals in proteins and predicting their subcellular localization","volume":"24","author":"Nakai","year":"1999","journal-title":"Trends Biochem Sci"},{"issue":"9","key":"10.1016\/j.gim.2025.101401_bib36","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1093\/bioinformatics\/btm066","article-title":"NucPred\u2014predicting nuclear localization of proteins","volume":"23","author":"Brameier","year":"2007","journal-title":"Bioinformatics"},{"issue":"D1","key":"10.1016\/j.gim.2025.101401_bib37","doi-asserted-by":"crossref","first-page":"D607","DOI":"10.1093\/nar\/gky1131","article-title":"STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets","volume":"47","author":"Szklarczyk","year":"2019","journal-title":"Nucleic Acids Res"},{"issue":"database issue","key":"10.1016\/j.gim.2025.101401_bib38","doi-asserted-by":"crossref","first-page":"D535","DOI":"10.1093\/nar\/gkj109","article-title":"BioGRID: a general repository for interaction datasets","volume":"34","author":"Stark","year":"2006","journal-title":"Nucleic Acids Res"},{"issue":"D1","key":"10.1016\/j.gim.2025.101401_bib39","doi-asserted-by":"crossref","first-page":"D444","DOI":"10.1093\/nar\/gkae1082","article-title":"InterPro: the protein sequence classification resource in 2025","volume":"53","author":"Blum","year":"2025","journal-title":"Nucleic Acids Res"},{"issue":"9","key":"10.1016\/j.gim.2025.101401_bib40","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1093\/bioinformatics\/btm076","article-title":"COBALT: constraint-based alignment tool for multiple protein sequences","volume":"23","author":"Papadopoulos","year":"2007","journal-title":"Bioinformatics"},{"issue":"21","key":"10.1016\/j.gim.2025.101401_bib41","doi-asserted-by":"crossref","first-page":"2947","DOI":"10.1093\/bioinformatics\/btm404","article-title":"Clustal W and Clustal X version 2.0","volume":"23","author":"Larkin","year":"2007","journal-title":"Bioinformatics"},{"issue":"6","key":"10.1016\/j.gim.2025.101401_bib42","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1093\/molbev\/msw046","article-title":"ETE 3: reconstruction, analysis, and visualization of phylogenomic data","volume":"33","author":"Huerta-Cepas","year":"2016","journal-title":"Mol Biol Evol"},{"key":"10.1016\/j.gim.2025.101401_bib43","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/978-1-0716-1904-9_7","article-title":"Synchronizing mammalian cells for mitotic analysis of the localization of survivin","volume":"2415","author":"Wheatley","year":"2022","journal-title":"Methods Mol Biol"},{"issue":"18","key":"10.1016\/j.gim.2025.101401_bib44","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2018100811","article-title":"A single-cell transcriptome atlas of the adult human retina","volume":"38","author":"Lukowski","year":"2019","journal-title":"EMBO J"},{"issue":"5","key":"10.1016\/j.gim.2025.101401_bib45","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"},{"issue":"6","key":"10.1016\/j.gim.2025.101401_bib46","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.ajhg.2017.04.015","article-title":"Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource","volume":"100","author":"Strande","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"6220","key":"10.1016\/j.gim.2025.101401_bib47","doi-asserted-by":"crossref","DOI":"10.1126\/science.1260419","article-title":"Proteomics. Tissue-based map of the human proteome","volume":"347","author":"Uhl\u00e9n","year":"2015","journal-title":"Science"},{"issue":"6","key":"10.1016\/j.gim.2025.101401_bib48","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","article-title":"The Genotype-Tissue Expression (GTEx) project","volume":"45","year":"2013","journal-title":"Nat Genet"},{"issue":"3","key":"10.1016\/j.gim.2025.101401_bib49","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1042\/BJ20100699","article-title":"NMD: RNA biology meets human genetic medicine","volume":"430","author":"Bhuvanagiri","year":"2010","journal-title":"Biochem J"},{"key":"10.1016\/j.gim.2025.101401_bib50","first-page":"2539","article-title":"Spatiotemporal expression pattern of ceramide kinase-like in the mouse retina","volume":"16","author":"Vekslin","year":"2010","journal-title":"Mol Vis"},{"issue":"8","key":"10.1016\/j.gim.2025.101401_bib51","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1038\/nrn2880","article-title":"Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina","volume":"11","author":"Swaroop","year":"2010","journal-title":"Nat Rev Neurosci"},{"issue":"10","key":"10.1016\/j.gim.2025.101401_bib52","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1136\/jmedgenet-2017-104632","article-title":"Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability","volume":"54","author":"Tatour","year":"2017","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.gim.2025.101401_bib53","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1083\/jcb.200701166","article-title":"SCAPER, a novel cyclin A-interacting protein that regulates cell cycle progression","volume":"178","author":"Tsang","year":"2007","journal-title":"J Cell Biol"},{"issue":"1","key":"10.1016\/j.gim.2025.101401_bib54","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1186\/s10020-024-00875-y","article-title":"Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies","volume":"30","author":"Liu","year":"2024","journal-title":"Mol Med"},{"issue":"5013","key":"10.1016\/j.gim.2025.101401_bib55","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1126\/science.2047879","article-title":"Identification of p53 as a sequence-specific DNA-binding protein","volume":"252","author":"Kern","year":"1991","journal-title":"Science"},{"issue":"1","key":"10.1016\/j.gim.2025.101401_bib56","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.celrep.2014.05.048","article-title":"Perturbation of m6A writers reveals two distinct classes of mRNA methylation at internal and 5\u2032 sites","volume":"8","author":"Schwartz","year":"2014","journal-title":"Cell Rep"},{"issue":"6976","key":"10.1016\/j.gim.2025.101401_bib57","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1038\/nature02351","article-title":"An eIF4AIII-containing complex required for mRNA localization and nonsense-mediated mRNA decay","volume":"427","author":"Palacios","year":"2004","journal-title":"Nature"},{"issue":"12","key":"10.1016\/j.gim.2025.101401_bib58","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1101\/gad.10.12.1491","article-title":"Mammalian p50Cdc37 is a protein kinase-targeting subunit of Hsp90 that binds and stabilizes Cdk4","volume":"10","author":"Stepanova","year":"1996","journal-title":"Genes Dev"},{"issue":"3","key":"10.1016\/j.gim.2025.101401_bib59","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1073\/pnas.95.3.1010","article-title":"Mammalian DNA topoisomerase IIIalpha is essential in early embryogenesis","volume":"95","author":"Li","year":"1998","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"10","key":"10.1016\/j.gim.2025.101401_bib60","doi-asserted-by":"crossref","first-page":"6049","DOI":"10.1128\/MCB.17.10.6049","article-title":"HEC, a novel nuclear protein rich in leucine heptad repeats specifically involved in mitosis","volume":"17","author":"Chen","year":"1997","journal-title":"Mol Cell Biol"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360025000486?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360025000486?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T07:30:28Z","timestamp":1777793428000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360025000486"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":59,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["S1098360025000486"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2025.101401","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2025,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2025.101401","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"101401"}}