{"id":"https://openalex.org/W4295227060","doi":"https://doi.org/10.1093/hmg/ddac227","title":"Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies","display_name":"Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies","publication_year":2022,"publication_date":"2022-09-08","ids":{"openalex":"https://openalex.org/W4295227060","doi":"https://doi.org/10.1093/hmg/ddac227","pmid":"https://pubmed.ncbi.nlm.nih.gov/36084042","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9896476"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/ddac227","doi":"https://doi.org/10.1093/hmg/ddac227","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddac227","pdf_url":"https://academic.oup.com/hmg/article-pdf/32/4/595/48941456/ddac227.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/hmg/article-pdf/32/4/595/48941456/ddac227.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5087735317","display_name":"Malena Daich Varela","orcid":"https://orcid.org/0000-0003-4960-4510","observed_orcids":["https://orcid.org/0000-0003-4960-4510"]},"institutions":[{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Malena Daich Varela","raw_affiliation_strings":["Moorfields Eye Hospital , London EC1V 2PD , UK","UCL Institute of Ophthalmology , London EC1V 9EL , UK"],"raw_orcid":"https://orcid.org/0000-0003-4960-4510","affiliations":[{"raw_affiliation_string":"Moorfields Eye Hospital , London EC1V 2PD , UK","institution_ids":["https://openalex.org/I4210150574"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077011636","display_name":"James Bellingham","orcid":"https://orcid.org/0000-0003-3368-5221","observed_orcids":["https://orcid.org/0000-0003-3368-5221"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"James Bellingham","raw_affiliation_strings":["UCL Institute of Ophthalmology , London EC1V 9EL , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072754036","display_name":"Fabiana Louise Motta","orcid":"https://orcid.org/0000-0003-2230-995X","observed_orcids":["https://orcid.org/0000-0003-2230-995X"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I88273585","display_name":"Universidade Federal de S\u00e3o Paulo","ror":"https://ror.org/02k5swt12","country_code":"BR","type":"education","lineage":["https://openalex.org/I88273585"]}],"countries":["BR","GB"],"is_corresponding":false,"raw_author_name":"Fabiana Motta","raw_affiliation_strings":["Department of Ophthalmology, Universidade Federal de Sao Paulo , Sao Paulo 04021001 , Brazil","UCL Institute of Ophthalmology , London EC1V 9EL , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Universidade Federal de Sao Paulo , Sao Paulo 04021001 , Brazil","institution_ids":["https://openalex.org/I88273585"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010610689","display_name":"Neringa Jurkut\u0117","orcid":"https://orcid.org/0000-0002-3092-7451","observed_orcids":["https://orcid.org/0000-0002-3092-7451"]},"institutions":[{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Neringa Jurkute","raw_affiliation_strings":["Moorfields Eye Hospital , London EC1V 2PD , UK","UCL Institute of Ophthalmology , London EC1V 9EL , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Moorfields Eye Hospital , London EC1V 2PD , UK","institution_ids":["https://openalex.org/I4210150574"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]}]},{"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"]},{"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":"Jamie M Ellingford","raw_affiliation_strings":["Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester , Manchester M13 9PL , UK","North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary\u2019s Hospital , Manchester M13 9WL , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester , Manchester M13 9PL , UK","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary\u2019s Hospital , Manchester M13 9WL , UK","institution_ids":["https://openalex.org/I4210087748","https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068932933","display_name":"Mathieu Quinodoz","orcid":"https://orcid.org/0000-0002-9841-4433","observed_orcids":["https://orcid.org/0000-0002-9841-4433"]},"institutions":[{"id":"https://openalex.org/I153648349","display_name":"University of Leicester","ror":"https://ror.org/04h699437","country_code":"GB","type":"education","lineage":["https://openalex.org/I153648349"]},{"id":"https://openalex.org/I1850255","display_name":"University of Basel","ror":"https://ror.org/02s6k3f65","country_code":"CH","type":"education","lineage":["https://openalex.org/I1850255"]},{"id":"https://openalex.org/I4210165657","display_name":"Institute of Molecular and Clinical Ophthalmology Basel","ror":"https://ror.org/05e715194","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I4210165657"]}],"countries":["CH","GB"],"is_corresponding":false,"raw_author_name":"Mathieu Quinodoz","raw_affiliation_strings":["Department of Genetics and Genome Biology, University of Leicester , Leicester LE1 7RH , UK","Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Genome Biology, University of Leicester , Leicester LE1 7RH , UK","institution_ids":["https://openalex.org/I153648349"]},{"raw_affiliation_string":"Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I1850255"]},{"raw_affiliation_string":"Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I4210165657"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010411998","display_name":"Kathryn Oprych","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kathryn Oprych","raw_affiliation_strings":["UCL Institute of Ophthalmology , London EC1V 9EL , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080148088","display_name":"Michael Niblock","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael Niblock","raw_affiliation_strings":["UCL Institute of Ophthalmology , London EC1V 9EL , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002932319","display_name":"Lucas Janeschitz\u2010Kriegl","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1850255","display_name":"University of Basel","ror":"https://ror.org/02s6k3f65","country_code":"CH","type":"education","lineage":["https://openalex.org/I1850255"]},{"id":"https://openalex.org/I4210165657","display_name":"Institute of Molecular and Clinical Ophthalmology Basel","ror":"https://ror.org/05e715194","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I4210165657"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Lucas Janeschitz-Kriegl","raw_affiliation_strings":["Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I1850255"]},{"raw_affiliation_string":"Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I4210165657"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042706688","display_name":"Karolina Kami\u0144ska","orcid":"https://orcid.org/0000-0002-4720-5527","observed_orcids":["https://orcid.org/0000-0002-4720-5527"]},"institutions":[{"id":"https://openalex.org/I1850255","display_name":"University of Basel","ror":"https://ror.org/02s6k3f65","country_code":"CH","type":"education","lineage":["https://openalex.org/I1850255"]},{"id":"https://openalex.org/I4210165657","display_name":"Institute of Molecular and Clinical Ophthalmology Basel","ror":"https://ror.org/05e715194","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I4210165657"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Karolina Kaminska","raw_affiliation_strings":["Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I1850255"]},{"raw_affiliation_string":"Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I4210165657"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073186914","display_name":"Francesca Cancellieri","orcid":"https://orcid.org/0000-0001-8476-5366","observed_orcids":["https://orcid.org/0000-0001-8476-5366"]},"institutions":[{"id":"https://openalex.org/I1850255","display_name":"University of Basel","ror":"https://ror.org/02s6k3f65","country_code":"CH","type":"education","lineage":["https://openalex.org/I1850255"]},{"id":"https://openalex.org/I4210165657","display_name":"Institute of Molecular and Clinical Ophthalmology Basel","ror":"https://ror.org/05e715194","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I4210165657"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Francesca Cancellieri","raw_affiliation_strings":["Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I1850255"]},{"raw_affiliation_string":"Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I4210165657"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059328359","display_name":"Hendrik P. N. Scholl","orcid":"https://orcid.org/0000-0002-7312-0316","observed_orcids":["https://orcid.org/0000-0002-7312-0316"]},"institutions":[{"id":"https://openalex.org/I1850255","display_name":"University of Basel","ror":"https://ror.org/02s6k3f65","country_code":"CH","type":"education","lineage":["https://openalex.org/I1850255"]},{"id":"https://openalex.org/I4210165657","display_name":"Institute of Molecular and Clinical Ophthalmology Basel","ror":"https://ror.org/05e715194","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I4210165657"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Hendrik P N Scholl","raw_affiliation_strings":["Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I1850255"]},{"raw_affiliation_string":"Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I4210165657"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111625934","display_name":"Eva Lenassi","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"]},{"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, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester , Manchester M13 9PL , UK","North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary\u2019s Hospital , Manchester M13 9WL , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester , Manchester M13 9PL , UK","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary\u2019s Hospital , Manchester M13 9WL , UK","institution_ids":["https://openalex.org/I4210087748","https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061578095","display_name":"Elena Schiff","orcid":"https://orcid.org/0000-0002-9848-1302","observed_orcids":["https://orcid.org/0000-0002-9848-1302"]},"institutions":[{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Elena Schiff","raw_affiliation_strings":["Moorfields Eye Hospital , London EC1V 2PD , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Moorfields Eye Hospital , London EC1V 2PD , UK","institution_ids":["https://openalex.org/I4210150574"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077691071","display_name":"Hannah Knight","orcid":"https://orcid.org/0000-0003-1681-2532","observed_orcids":["https://orcid.org/0000-0003-1681-2532"]},"institutions":[{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Hannah Knight","raw_affiliation_strings":["Moorfields Eye Hospital , London EC1V 2PD , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Moorfields Eye Hospital , London EC1V 2PD , UK","institution_ids":["https://openalex.org/I4210150574"]}]},{"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 Black","raw_affiliation_strings":["Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester , Manchester M13 9PL , UK","North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary\u2019s Hospital , Manchester M13 9WL , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester , Manchester M13 9PL , UK","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary\u2019s Hospital , Manchester M13 9WL , UK","institution_ids":["https://openalex.org/I4210087748","https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003874624","display_name":"Carlo Rivolta","orcid":"https://orcid.org/0000-0002-0733-9950","observed_orcids":["https://orcid.org/0000-0002-0733-9950"]},"institutions":[{"id":"https://openalex.org/I153648349","display_name":"University of Leicester","ror":"https://ror.org/04h699437","country_code":"GB","type":"education","lineage":["https://openalex.org/I153648349"]},{"id":"https://openalex.org/I1850255","display_name":"University of Basel","ror":"https://ror.org/02s6k3f65","country_code":"CH","type":"education","lineage":["https://openalex.org/I1850255"]},{"id":"https://openalex.org/I4210165657","display_name":"Institute of Molecular and Clinical Ophthalmology Basel","ror":"https://ror.org/05e715194","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I4210165657"]}],"countries":["CH","GB"],"is_corresponding":false,"raw_author_name":"Carlo Rivolta","raw_affiliation_strings":["Department of Genetics and Genome Biology, University of Leicester , Leicester LE1 7RH , UK","Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Genome Biology, University of Leicester , Leicester LE1 7RH , UK","institution_ids":["https://openalex.org/I153648349"]},{"raw_affiliation_string":"Department of Ophthalmology, University of Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I1850255"]},{"raw_affiliation_string":"Institute of Molecular and Clinical Ophthalmology Basel , Basel 4031 , Switzerland","institution_ids":["https://openalex.org/I4210165657"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088604298","display_name":"Michael E. Cheetham","orcid":"https://orcid.org/0000-0001-6429-654X","observed_orcids":["https://orcid.org/0000-0001-6429-654X"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael E Cheetham","raw_affiliation_strings":["UCL Institute of Ophthalmology , London EC1V 9EL , UK"],"raw_orcid":"https://orcid.org/0000-0001-6429-654X","affiliations":[{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077508604","display_name":"Michel Michaelides","orcid":"https://orcid.org/0000-0002-1552-7046","observed_orcids":["https://orcid.org/0000-0002-1552-7046"]},"institutions":[{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michel Michaelides","raw_affiliation_strings":["Moorfields Eye Hospital , London EC1V 2PD , UK","UCL Institute of Ophthalmology , London EC1V 9EL , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Moorfields Eye Hospital , London EC1V 2PD , UK","institution_ids":["https://openalex.org/I4210150574"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066948418","display_name":"Omar A. Mahroo","orcid":"https://orcid.org/0000-0003-1254-0832","observed_orcids":["https://orcid.org/0000-0003-1254-0832"]},"institutions":[{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Omar A Mahroo","raw_affiliation_strings":["Moorfields Eye Hospital , London EC1V 2PD , UK","UCL Institute of Ophthalmology , London EC1V 9EL , UK"],"raw_orcid":"https://orcid.org/0000-0003-1254-0832","affiliations":[{"raw_affiliation_string":"Moorfields Eye Hospital , London EC1V 2PD , UK","institution_ids":["https://openalex.org/I4210150574"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106176057","display_name":"Anthony T. Moore","orcid":"https://orcid.org/0000-0001-7087-1205","observed_orcids":["https://orcid.org/0000-0001-7087-1205"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Anthony T Moore","raw_affiliation_strings":["Moorfields Eye Hospital , London EC1V 2PD , UK","UCL Institute of Ophthalmology , London EC1V 9EL , UK","University of California , San Francisco, CA 94607 , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Moorfields Eye Hospital , London EC1V 2PD , UK","institution_ids":["https://openalex.org/I4210150574"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"University of California , San Francisco, CA 94607 , USA","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090291315","display_name":"Andrew R. Webster","orcid":"https://orcid.org/0000-0001-6915-9560","observed_orcids":["https://orcid.org/0000-0001-6915-9560"]},"institutions":[{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Andrew R Webster","raw_affiliation_strings":["Moorfields Eye Hospital , London EC1V 2PD , UK","UCL Institute of Ophthalmology , London EC1V 9EL , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Moorfields Eye Hospital , London EC1V 2PD , UK","institution_ids":["https://openalex.org/I4210150574"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5078058754","display_name":"Gavin Arno","orcid":"https://orcid.org/0000-0002-6165-7888","observed_orcids":["https://orcid.org/0000-0002-6165-7888"]},"institutions":[{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I4210150574","display_name":"Moorfields Eye Hospital","ror":"https://ror.org/03tb37539","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1325675289","https://openalex.org/I4210150574"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Gavin Arno","raw_affiliation_strings":["Moorfields Eye Hospital , London EC1V 2PD , UK","North Thames Genomic Laboratory Hub, Great Ormond Street Hospital For Children , London WC1N 3JH , UK","UCL Institute of Ophthalmology , London EC1V 9EL , UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Moorfields Eye Hospital , London EC1V 2PD , UK","institution_ids":["https://openalex.org/I4210150574"]},{"raw_affiliation_string":"North Thames Genomic Laboratory Hub, Great Ormond Street Hospital For Children , London WC1N 3JH , UK","institution_ids":["https://openalex.org/I2800129641"]},{"raw_affiliation_string":"UCL Institute of Ophthalmology , London EC1V 9EL , UK","institution_ids":["https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5078058754"],"corresponding_institution_ids":["https://openalex.org/I2800129641","https://openalex.org/I4210150574","https://openalex.org/I45129253"],"apc_list":{"value":4181,"currency":"USD","value_usd":4181},"apc_paid":{"value":4181,"currency":"USD","value_usd":4181},"fwci":5.1609,"has_fulltext":true,"cited_by_count":29,"citation_normalized_percentile":{"value":0.972318,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"32","issue":"4","first_page":"595","last_page":"607"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.6122999787330627,"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":0.6122999787330627,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.37380000948905945,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/inherited-retinal-disease","display_name":"inherited retinal disease","score":0.9279999732971191},{"id":"https://openalex.org/keywords/non-coding-variants","display_name":"non-coding variants","score":0.9890000224113464},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.6779999732971191},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.45500001311302185},{"id":"https://openalex.org/keywords/multidisciplinary-team-discussion","display_name":"multidisciplinary discussion","score":0.6959999799728394},{"id":"https://openalex.org/keywords/prpf31","display_name":"PRPF31","score":0.7480000257492065},{"id":"https://openalex.org/keywords/ndp","display_name":"NDP","score":0.7120000123977661},{"id":"https://openalex.org/keywords/ift140","display_name":"IFT140","score":1.0},{"id":"https://openalex.org/keywords/crb1","display_name":"CRB1","score":1.0},{"id":"https://openalex.org/keywords/ush2a","display_name":"USH2A","score":0.9990000128746033},{"id":"https://openalex.org/keywords/bbs10","display_name":"BBS10","score":0.9990000128746033},{"id":"https://openalex.org/keywords/gucy2d","display_name":"GUCY2D","score":0.9990000128746033},{"id":"https://openalex.org/keywords/aberrant-splicing","display_name":"aberrant splicing","score":0.7250000238418579},{"id":"https://openalex.org/keywords/transcriptional-regulation","display_name":"transcriptional regulation","score":0.6100000143051147},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.675000011920929}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9190325736999512},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7502623200416565},{"id":"https://openalex.org/C166342232","wikidata":"https://www.wikidata.org/wiki/Q11936831","display_name":"Minigene","level":5,"score":0.7343947291374207},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6708382368087769},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5009148120880127},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4965882897377014},{"id":"https://openalex.org/C91779695","wikidata":"https://www.wikidata.org/wiki/Q3780824","display_name":"Coding region","level":3,"score":0.46249106526374817},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.45408064126968384},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.41253364086151123},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.2029159963130951}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010348","descriptor_name":"Patient Care Team","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058499","descriptor_name":"Retinal Dystrophies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D058499","descriptor_name":"Retinal Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1093/hmg/ddac227","doi":"https://doi.org/10.1093/hmg/ddac227","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddac227","pdf_url":"https://academic.oup.com/hmg/article-pdf/32/4/595/48941456/ddac227.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9896476","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9896476","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":"Hum Mol Genet","raw_type":"Text"},{"id":"pmid:36084042","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36084042","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":"Human molecular genetics","raw_type":"Journal Article"},{"id":"pmh:oai:escholarship.org:ark:/13030/qt4z14k3r2","doi":null,"is_oa":true,"landing_page_url":"https://escholarship.org/uc/item/4z14k3r2","pdf_url":"https://escholarship.org/content/qt4z14k3r2/qt4z14k3r2.pdf?t=rxapn6","source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Human Molecular Genetics, vol 32, iss 4","raw_type":"article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:10156297","doi":null,"is_oa":false,"landing_page_url":"https://discovery.ucl.ac.uk/id/eprint/10156297/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Human Molecular Genetics (2022) (In press).","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1093/hmg/ddac227","doi":"https://doi.org/10.1093/hmg/ddac227","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddac227","pdf_url":"https://academic.oup.com/hmg/article-pdf/32/4/595/48941456/ddac227.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1317129495","display_name":"Genomics of inherited retinal diseases","funder_award_id":"204285","funder_id":"https://openalex.org/F4320320924","funder_display_name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung"},{"id":"https://openalex.org/G2274422225","display_name":null,"funder_award_id":"5045/46","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G2381683370","display_name":null,"funder_award_id":"SAC051","funder_id":"https://openalex.org/F4320320022","funder_display_name":"Sight Research UK"},{"id":"https://openalex.org/G339059223","display_name":null,"funder_award_id":"Z/17/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G3468531866","display_name":"Non-Mendelian inheritance in retinal degenerations","funder_award_id":"176097","funder_id":"https://openalex.org/F4320320924","funder_display_name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung"},{"id":"https://openalex.org/G3847285604","display_name":null,"funder_award_id":"GR001203","funder_id":"https://openalex.org/F4320329812","funder_display_name":"Moorfields Eye Charity"},{"id":"https://openalex.org/G4522301952","display_name":"Investigating mechanisms involved in retinal signalling in health and disease through detailed in vivo human electrophysiological investigation","funder_award_id":"206619/Z/17/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G7156829537","display_name":null,"funder_award_id":"206619/Z/17/Z","funder_id":"https://openalex.org/F4320320188","funder_display_name":"Fight for Sight UK"},{"id":"https://openalex.org/G8133276180","display_name":"Investigating mechanisms involved in retinal signalling in health and disease through detailed in vivo human electrophysiological investigation","funder_award_id":"206619","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G8524275990","display_name":null,"funder_award_id":"5045/46","funder_id":"https://openalex.org/F4320320188","funder_display_name":"Fight for Sight UK"}],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"},{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320319985","display_name":"Cancer Research UK","ror":"https://ror.org/054225q67"},{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320319994","display_name":"Department of Health and Social Care","ror":"https://ror.org/03sbpja79"},{"id":"https://openalex.org/F4320320022","display_name":"Sight Research UK","ror":"https://ror.org/03z2py885"},{"id":"https://openalex.org/F4320320188","display_name":"Fight for Sight UK","ror":"https://ror.org/03133qe46"},{"id":"https://openalex.org/F4320320924","display_name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","ror":"https://ror.org/00yjd3n13"},{"id":"https://openalex.org/F4320327683","display_name":"Moorfields Eye Hospital NHS Foundation Trust","ror":"https://ror.org/03tb37539"},{"id":"https://openalex.org/F4320329812","display_name":"Moorfields Eye Charity","ror":"https://ror.org/017hm5p20"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4295227060.pdf","grobid_xml":"https://content.openalex.org/works/W4295227060.grobid-xml"},"referenced_works_count":58,"referenced_works":["https://openalex.org/W144423133","https://openalex.org/W265142245","https://openalex.org/W1599796644","https://openalex.org/W1915213110","https://openalex.org/W2018490222","https://openalex.org/W2021341670","https://openalex.org/W2063347806","https://openalex.org/W2064904456","https://openalex.org/W2084726394","https://openalex.org/W2087230189","https://openalex.org/W2105625618","https://openalex.org/W2114409847","https://openalex.org/W2130919037","https://openalex.org/W2147502716","https://openalex.org/W2149738882","https://openalex.org/W2156190275","https://openalex.org/W2170750428","https://openalex.org/W2197459998","https://openalex.org/W2253755643","https://openalex.org/W2513431860","https://openalex.org/W2547540394","https://openalex.org/W2559989482","https://openalex.org/W2564368426","https://openalex.org/W2592439909","https://openalex.org/W2597592473","https://openalex.org/W2609428916","https://openalex.org/W2620518508","https://openalex.org/W2736065260","https://openalex.org/W2740949035","https://openalex.org/W2748114767","https://openalex.org/W2883897094","https://openalex.org/W2885164002","https://openalex.org/W2889287658","https://openalex.org/W2905847254","https://openalex.org/W2906254957","https://openalex.org/W2909194804","https://openalex.org/W2910182884","https://openalex.org/W2914421200","https://openalex.org/W2918713643","https://openalex.org/W2971597914","https://openalex.org/W2996779236","https://openalex.org/W3002340286","https://openalex.org/W3005189158","https://openalex.org/W3009621895","https://openalex.org/W3013231273","https://openalex.org/W3016532672","https://openalex.org/W3017060591","https://openalex.org/W3035236757","https://openalex.org/W3046319422","https://openalex.org/W3080580162","https://openalex.org/W3087447407","https://openalex.org/W3125890710","https://openalex.org/W3132971254","https://openalex.org/W3134955703","https://openalex.org/W3169435121","https://openalex.org/W3195483898","https://openalex.org/W3206573338","https://openalex.org/W6799574136"],"related_works":["https://openalex.org/W4312032381","https://openalex.org/W3004908428","https://openalex.org/W3085197622","https://openalex.org/W4399120973","https://openalex.org/W7025468685","https://openalex.org/W4221077752","https://openalex.org/W2996779236","https://openalex.org/W4390316920","https://openalex.org/W3207677383","https://openalex.org/W4307770962"],"abstract_inverted_index":{"The":[0,37],"purpose":[1],"of":[2,39,80,148],"this":[3],"paper":[4],"is":[5,150],"to":[6,27,72,127,129],"identify":[7],"likely":[8,104],"pathogenic":[9,50,76],"non-coding":[10,81,106,145],"variants":[11,51,89,107],"in":[12,65,108,121,152],"inherited":[13],"retinal":[14],"dystrophy":[15],"(IRD)":[16],"genes,":[17],"using":[18],"genome":[19],"sequencing":[20],"(GS).":[21],"Patients":[22],"with":[23],"IRD":[24],"were":[25,41,90,119,125],"recruited":[26],"the":[28,57,154],"study":[29],"and":[30,35,48,52,117,134,141],"underwent":[31],"comprehensive":[32],"ophthalmological":[33],"evaluation":[34],"GS.":[36],"results":[38],"GS":[40,86,149],"investigated":[42],"through":[43],"virtual":[44],"gene":[45,69],"panel":[46],"analysis,":[47,96],"plausible":[49],"clinical":[53],"phenotype":[54],"evaluated":[55],"by":[56,93],"multidisciplinary":[58],"team":[59],"(MDT)":[60],"discussion.":[61],"For":[62],"unsolved":[63],"patients":[64],"whom":[66],"a":[67,74],"specific":[68],"was":[70,83],"suspected":[71],"harbor":[73],"missed":[75],"variant,":[77],"targeted":[78],"re-analysis":[79,147],"regions":[82],"performed":[84],"on":[85],"data.":[87],"Candidate":[88],"functionally":[91],"tested":[92],"messenger":[94],"RNA":[95],"minigene":[97],"or":[98,136],"luciferase":[99],"reporter":[100],"assays.":[101],"Previously":[102],"unreported,":[103],"pathogenic,":[105],"7":[109],"genes":[110],"(PRPF31,":[111,131],"NDP,":[112],"IFT140,":[113,132],"CRB1,":[114],"USH2A,":[115],"BBS10":[116],"GUCY2D),":[118],"identified":[120],"11":[122],"patients.":[123],"These":[124],"shown":[126],"lead":[128],"mis-splicing":[130],"CRB1":[133],"USH2A)":[135],"altered":[137],"transcription":[138],"levels":[139],"(BBS10":[140],"GUCY2D).":[142],"MDT-led,":[143],"phenotype-driven,":[144],"variant":[146],"effective":[151],"identifying":[153],"missing":[155],"causative":[156],"alleles.":[157]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":10},{"year":2024,"cited_by_count":11},{"year":2023,"cited_by_count":2}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2022-09-12T00:00:00"}
