{"id":"https://openalex.org/W3134427807","doi":"https://doi.org/10.1167/iovs.62.7.16","title":"North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants","display_name":"North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants","publication_year":2021,"publication_date":"2021-06-14","ids":{"openalex":"https://openalex.org/W3134427807","doi":"https://doi.org/10.1167/iovs.62.7.16","mag":"3134427807","pmid":"https://pubmed.ncbi.nlm.nih.gov/34125159","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8212441"},"language":"en","primary_location":{"id":"doi:10.1167/iovs.62.7.16","doi":"https://doi.org/10.1167/iovs.62.7.16","is_oa":true,"landing_page_url":"https://doi.org/10.1167/iovs.62.7.16","pdf_url":null,"source":{"id":"https://openalex.org/S76304953","display_name":"Investigative Ophthalmology & Visual Science","issn_l":"0146-0404","issn":["0146-0404","1552-5783"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321950","host_organization_name":"Cadmus Press","host_organization_lineage":["https://openalex.org/P4310321950"],"host_organization_lineage_names":["Cadmus Press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative Opthalmology &amp; Visual Science","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1167/iovs.62.7.16","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"David J. Green","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David J. Green","raw_affiliation_strings":["Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111625934","display_name":"Eva Lenassi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801704036","display_name":"Manchester Royal Eye Hospital","ror":"https://ror.org/04xtpk854","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801704036","https://openalex.org/I4210092852","https://openalex.org/I4210166818"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Eva Lenassi","raw_affiliation_strings":["Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom","Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom","Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"raw_affiliation_string":"Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I2801704036","https://openalex.org/I4210092852"]},{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom","institution_ids":["https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"raw_affiliation_string":"Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom","institution_ids":["https://openalex.org/I2801704036","https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030516161","display_name":"Cerys S Manning","orcid":"https://orcid.org/0000-0001-8656-5878","observed_orcids":["https://orcid.org/0000-0001-8656-5878"]},"institutions":[{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Cerys S. Manning","raw_affiliation_strings":["Division of Developmental Biology and Medicine, School of Medical Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","Division of Developmental Biology and Medicine, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Developmental Biology and Medicine, School of Medical Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"Division of Developmental Biology and Medicine, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070031074","display_name":"David M. McGaughey","orcid":"https://orcid.org/0000-0002-9224-2888","observed_orcids":["https://orcid.org/0000-0002-9224-2888"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210139686","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David McGaughey","raw_affiliation_strings":["Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Vinod Sharma","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801704036","display_name":"Manchester Royal Eye Hospital","ror":"https://ror.org/04xtpk854","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801704036","https://openalex.org/I4210092852","https://openalex.org/I4210166818"]},{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Vinod Sharma","raw_affiliation_strings":["Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I2801704036","https://openalex.org/I4210092852"]},{"raw_affiliation_string":"Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom","institution_ids":["https://openalex.org/I2801704036","https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033873486","display_name":"Graeme Charles M. Black","orcid":"https://orcid.org/0000-0001-8727-6592","observed_orcids":["https://orcid.org/0000-0001-8727-6592","https://orcid.org/0000-0003-3435-2621"]},"institutions":[{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Graeme C. Black","raw_affiliation_strings":["Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom","Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom","institution_ids":["https://openalex.org/I4210087748","https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068162021","display_name":"Jamie M. Ellingford","orcid":"https://orcid.org/0000-0003-1137-9768","observed_orcids":["https://orcid.org/0000-0003-1137-9768"]},"institutions":[{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jamie M. Ellingford","raw_affiliation_strings":["Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085779691","display_name":"Panagiotis I. Sergouniotis","orcid":"https://orcid.org/0000-0003-0986-4123","observed_orcids":["https://orcid.org/0000-0003-0986-4123"]},"institutions":[{"id":"https://openalex.org/I153976015","display_name":"University of Ljubljana","ror":"https://ror.org/05njb9z20","country_code":"SI","type":"education","lineage":["https://openalex.org/I153976015"]},{"id":"https://openalex.org/I2801704036","display_name":"Manchester Royal Eye Hospital","ror":"https://ror.org/04xtpk854","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801704036","https://openalex.org/I4210092852","https://openalex.org/I4210166818"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB","SI"],"is_corresponding":true,"raw_author_name":"Panagiotis I. Sergouniotis","raw_affiliation_strings":["Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom","Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia","Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom","Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester M13 9PT, UK","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"Manchester Centre for Genomic Medicine, St Mary\u2019s Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"raw_affiliation_string":"Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK","institution_ids":["https://openalex.org/I2801704036","https://openalex.org/I4210092852"]},{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia","institution_ids":["https://openalex.org/I153976015"]},{"raw_affiliation_string":"Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom","institution_ids":["https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"raw_affiliation_string":"Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom","institution_ids":["https://openalex.org/I2801704036","https://openalex.org/I4210092852"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5085779691"],"corresponding_institution_ids":["https://openalex.org/I153976015","https://openalex.org/I2801704036","https://openalex.org/I28407311","https://openalex.org/I4210087748","https://openalex.org/I4210092852"],"apc_list":{"value":1850,"currency":"USD","value_usd":1850},"apc_paid":{"value":1850,"currency":"USD","value_usd":1850},"fwci":2.7652,"has_fulltext":false,"cited_by_count":18,"citation_normalized_percentile":{"value":0.89898113,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"62","issue":"7","first_page":"16","last_page":"16"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9887999892234802,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9887999892234802,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10170","display_name":"Retinal Diseases and Treatments","score":0.006399999838322401,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/north-carolina-macular-dystrophy","display_name":"North Carolina macular dystrophy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/prdm13","display_name":"PRDM13","score":0.9900000095367432},{"id":"https://openalex.org/keywords/non-coding-variants","display_name":"non-coding variants","score":0.968999981880188},{"id":"https://openalex.org/keywords/enhancers","display_name":"enhancers","score":0.7390000224113464},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.8379999995231628},{"id":"https://openalex.org/keywords/choroidal-neovascularization","display_name":"choroidal neovascularization","score":0.8970000147819519},{"id":"https://openalex.org/keywords/bevacizumab","display_name":"bevacizumab","score":0.6890000104904175},{"id":"https://openalex.org/keywords/macular-lesions","display_name":"macular lesions","score":0.4320000112056732},{"id":"https://openalex.org/keywords/retinal-development","display_name":"retinal development","score":0.3149999976158142}],"concepts":[{"id":"https://openalex.org/C121912465","wikidata":"https://www.wikidata.org/wiki/Q3589153","display_name":"Epigenomics","level":5,"score":0.5665146112442017},{"id":"https://openalex.org/C2777093970","wikidata":"https://www.wikidata.org/wiki/Q169342","display_name":"Retina","level":2,"score":0.5602218508720398},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5414791703224182},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.523682713508606},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.48714134097099304},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4723699688911438},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.4550415873527527},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3334496021270752},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.23700499534606934},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22062522172927856},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.1386861801147461},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003317","descriptor_name":"Corneal Dystrophies, Hereditary","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D003317","descriptor_name":"Corneal Dystrophies, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003317","descriptor_name":"Corneal Dystrophies, Hereditary","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009887","descriptor_name":"Ophthalmoscopy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011495","descriptor_name":"Histone-Lysine N-Methyltransferase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014792","descriptor_name":"Visual Acuity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D041623","descriptor_name":"Tomography, Optical Coherence","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057890","descriptor_name":"Epigenomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D063189","descriptor_name":"Symptom Assessment","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1167/iovs.62.7.16","doi":"https://doi.org/10.1167/iovs.62.7.16","is_oa":true,"landing_page_url":"https://doi.org/10.1167/iovs.62.7.16","pdf_url":null,"source":{"id":"https://openalex.org/S76304953","display_name":"Investigative Ophthalmology & Visual Science","issn_l":"0146-0404","issn":["0146-0404","1552-5783"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321950","host_organization_name":"Cadmus Press","host_organization_lineage":["https://openalex.org/P4310321950"],"host_organization_lineage_names":["Cadmus Press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative Opthalmology &amp; Visual Science","raw_type":"journal-article"},{"id":"doi:10.1101/2021.03.05.21252975","doi":"https://doi.org/10.1101/2021.03.05.21252975","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2021.03.05.21252975","pdf_url":null,"source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:8212441","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8212441","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Invest Ophthalmol Vis Sci","raw_type":"Text"},{"id":"pmid:34125159","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34125159","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative ophthalmology & visual science","raw_type":"Journal Article"},{"id":"pmh:oai:pure.atira.dk:openaire/acbfede1-271d-4c44-984f-463a9fae8f1d","doi":null,"is_oa":true,"landing_page_url":"https://research.manchester.ac.uk/en/publications/acbfede1-271d-4c44-984f-463a9fae8f1d","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Green, D, Lenassi, E, Manning, C, McGaughey, D, Sharma, V, Black, G, Ellingford, J & Sergouniotis, P 2021, 'North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-associated non-coding variants', Investigative Ophthalmology and Visual Science., vol. 62, no. 7, pp. 16. https://doi.org/10.1167/iovs.62.7.16","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/fa405983-bf53-4381-88c6-777c44b3b912","doi":null,"is_oa":true,"landing_page_url":"https://research.manchester.ac.uk/en/publications/fa405983-bf53-4381-88c6-777c44b3b912","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Green, D J, Lenassi, E, Manning, C S, McGaughey, D, Sharma, V, Black, G C, Ellingford, J M & Sergouniotis, P I 2021 'North Carolina macular dystrophy : phenotypic variability and computational analysis of disease-implicated non-coding variants' medRxiv, medRxiv. https://doi.org/10.1101/2021.03.05.21252975","raw_type":"info:eu-repo/semantics/workingPaper"}],"best_oa_location":{"id":"doi:10.1167/iovs.62.7.16","doi":"https://doi.org/10.1167/iovs.62.7.16","is_oa":true,"landing_page_url":"https://doi.org/10.1167/iovs.62.7.16","pdf_url":null,"source":{"id":"https://openalex.org/S76304953","display_name":"Investigative Ophthalmology & Visual Science","issn_l":"0146-0404","issn":["0146-0404","1552-5783"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321950","host_organization_name":"Cadmus Press","host_organization_lineage":["https://openalex.org/P4310321950"],"host_organization_lineage_names":["Cadmus Press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative Opthalmology &amp; Visual Science","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1036172374","display_name":null,"funder_award_id":"CL-2017-06-001","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G6524371719","display_name":"Investigating links between the temporal and spatial control of embryonic neurogenesis.","funder_award_id":"103986/Z/14/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G9000286282","display_name":null,"funder_award_id":"200990/Z/16/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":62,"referenced_works":["https://openalex.org/W12665025","https://openalex.org/W1820330395","https://openalex.org/W1900095277","https://openalex.org/W1964436187","https://openalex.org/W1975714197","https://openalex.org/W1982102429","https://openalex.org/W1985075172","https://openalex.org/W2015269891","https://openalex.org/W2031167467","https://openalex.org/W2035110725","https://openalex.org/W2055426186","https://openalex.org/W2066059585","https://openalex.org/W2068337926","https://openalex.org/W2080477348","https://openalex.org/W2083235015","https://openalex.org/W2099990286","https://openalex.org/W2108234281","https://openalex.org/W2116467413","https://openalex.org/W2128016314","https://openalex.org/W2140304871","https://openalex.org/W2161978970","https://openalex.org/W2165274661","https://openalex.org/W2170551349","https://openalex.org/W2511567615","https://openalex.org/W2592811885","https://openalex.org/W2595472395","https://openalex.org/W2746736478","https://openalex.org/W2764177856","https://openalex.org/W2775484513","https://openalex.org/W2899324969","https://openalex.org/W2904981155","https://openalex.org/W2905452503","https://openalex.org/W2912895752","https://openalex.org/W2912953959","https://openalex.org/W2914762802","https://openalex.org/W2921944269","https://openalex.org/W2951912016","https://openalex.org/W2961840955","https://openalex.org/W2962826204","https://openalex.org/W2972605721","https://openalex.org/W2977265011","https://openalex.org/W2991016899","https://openalex.org/W2991283206","https://openalex.org/W3000799818","https://openalex.org/W3003739201","https://openalex.org/W3015016698","https://openalex.org/W3029661147","https://openalex.org/W3031590219","https://openalex.org/W3045696640","https://openalex.org/W3045910546","https://openalex.org/W3090937167","https://openalex.org/W3099179344","https://openalex.org/W3103797259","https://openalex.org/W3126160703","https://openalex.org/W3131056488","https://openalex.org/W3133859624","https://openalex.org/W3151678771","https://openalex.org/W3151785377","https://openalex.org/W4235482613","https://openalex.org/W4242718892","https://openalex.org/W4300873077","https://openalex.org/W6667571711"],"related_works":["https://openalex.org/W1900095277","https://openalex.org/W3031590219","https://openalex.org/W3151785377","https://openalex.org/W4407144837","https://openalex.org/W2205800428","https://openalex.org/W4394758747","https://openalex.org/W4412627400","https://openalex.org/W3195303821","https://openalex.org/W4306179839","https://openalex.org/W4313403197"],"abstract_inverted_index":{"Purpose:":[0],"North":[1],"Carolina":[2],"macular":[3,122,126],"dystrophy":[4],"(NCMD)":[5],"is":[6],"an":[7],"autosomal":[8],"dominant,":[9],"congenital":[10],"disorder":[11],"affecting":[12],"the":[13,39,61,85,104,165,196,207,214,225,231,237],"central":[14],"retina.":[15,199],"Here,":[16],"we":[17],"report":[18],"clinical":[19],"and":[20,28,47,55,60,68,99,113,155,235],"genetic":[21,48],"findings":[22,115],"in":[23,90,144,174,195,206,213,230,243],"three":[24],"families":[25],"segregating":[26],"NCMD":[27,175,234],"use":[29],"epigenomic":[30,56],"datasets":[31,57],"from":[32,108,117],"human":[33,198],"tissues":[34],"to":[35,71,110,124,191,203,246],"gain":[36],"insights":[37],"into":[38],"effect":[40],"of":[41,84,130,164,227,233,239],"NCMD-implicated":[42],"variants.":[43],"Methods:":[44],"Clinical":[45],"assessment":[46],"testing":[49],"were":[50,58,102,135,142],"performed.":[51],"Publicly":[52],"available":[53],"transcriptomic":[54],"analyzed":[59],"activity-by-contact":[62],"method":[63],"for":[64],"scoring":[65],"enhancer":[66,185],"elements":[67,188],"linking":[69],"them":[70],"target":[72],"genes":[73],"was":[74,88,201],"used.":[75],"Results:":[76],"A":[77],"previously":[78],"described,":[79],"heterozygous,":[80],"noncoding":[81,179],"variant":[82],"upstream":[83],"PRDM13":[86,194,200,228],"gene":[87],"detected":[89,137],"all":[91,145],"six":[92],"affected":[93],"study":[94,146],"participants":[95],"(chr6:100,040,987G>C":[96],"[GRCh37/hg19]).":[97],"Interfamilial":[98],"intrafamilial":[100],"variability":[101],"observed;":[103],"visual":[105],"acuity":[106],"ranged":[107,116],"0.0":[109],"1.6":[111],"LogMAR":[112],"fundoscopic":[114],"visually":[118],"insignificant,":[119],"confluent,":[120],"drusen-like":[121],"deposits":[123],"coloboma-like":[125],"lesions.":[127],"Variable":[128],"degrees":[129],"peripheral":[131],"retinal":[132,140,241],"spots":[133],"(which":[134],"easily":[136],"on":[138],"widefield":[139,240],"imaging)":[141],"observed":[143],"subjects.":[147],"Notably,":[148],"a":[149],"6-year-old":[150],"patient":[151],"developed":[152],"choroidal":[153],"neovascularization":[154],"required":[156],"treatment":[157],"with":[158,193,210],"intravitreal":[159],"bevacizumab":[160],"injections.":[161],"Computational":[162],"analysis":[163],"five":[166],"single":[167],"nucleotide":[168],"variants":[169],"that":[170,177],"have":[171,247],"been":[172],"implicated":[173],"revealed":[176],"these":[178,187],"changes":[180],"lie":[181],"within":[182],"two":[183],"putative":[184],"elements;":[186],"are":[189],"predicted":[190],"interact":[192],"developing":[197],"found":[202],"be":[204],"expressed":[205],"fetal":[208],"retina,":[209],"greatest":[211],"expression":[212],"amacrine":[215],"precursor":[216],"cell":[217],"population.":[218],"Conclusions:":[219],"We":[220],"provide":[221],"further":[222],"evidence":[223],"supporting":[224],"role":[226],"dysregulation":[229],"pathogenesis":[232],"highlight":[236],"usefulness":[238],"imaging":[242],"individuals":[244],"suspected":[245],"this":[248],"condition.":[249]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2021-03-15T00:00:00"}
