{"id":"https://openalex.org/W7222826752","doi":"https://doi.org/10.1155/humu/1839164","title":"Insights Into RP2 \u2010Associated Retinopathy: From Molecular Basis to Clinical Translation","display_name":"Insights Into RP2 \u2010Associated Retinopathy: From Molecular Basis to Clinical Translation","publication_year":2026,"publication_date":"2026-01-01","ids":{"openalex":"https://openalex.org/W7222826752","doi":"https://doi.org/10.1155/humu/1839164","pmid":"https://pubmed.ncbi.nlm.nih.gov/42892975","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13676036"},"language":"en","primary_location":{"id":"doi:10.1155/humu/1839164","doi":"https://doi.org/10.1155/humu/1839164","is_oa":true,"landing_page_url":"https://doi.org/10.1155/humu/1839164","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/humu/1839164","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"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 Mutation","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/humu/1839164","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5032085633","display_name":"Nina B\u00f6gershausen","orcid":"https://orcid.org/0000-0003-4300-8224","observed_orcids":["https://orcid.org/0000-0003-4300-8224"]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]},{"id":"https://openalex.org/I74656192","display_name":"University of G\u00f6ttingen","ror":"https://ror.org/01y9bpm73","country_code":"DE","type":"education","lineage":["https://openalex.org/I74656192"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Nina B\u00f6gershausen","raw_affiliation_strings":["Collaborative Research Center CRC 1690 \u201cDisease Mechanisms and Functional Restoration of Sensory and Motor Systems\u201d University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":"https://orcid.org/0000-0003-4300-8224","affiliations":[{"raw_affiliation_string":"Collaborative Research Center CRC 1690 \u201cDisease Mechanisms and Functional Restoration of Sensory and Motor Systems\u201d University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","institution_ids":["https://openalex.org/I74656192"]},{"raw_affiliation_string":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027492244","display_name":"Patricia Take","orcid":"https://orcid.org/0000-0003-4767-7759","observed_orcids":["https://orcid.org/0000-0003-4767-7759"]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Patricia D\u00f6ring","raw_affiliation_strings":["Department of Ophthalmology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":"https://orcid.org/0000-0003-4767-7759","affiliations":[{"raw_affiliation_string":"Department of Ophthalmology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108637853","display_name":"Maximilian J. Gerhardt","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018771216","display_name":"LMU Klinikum","ror":"https://ror.org/02jet3w32","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I3018771216","https://openalex.org/I8204097"]},{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Maximilian Gerhardt","raw_affiliation_strings":["Department of Ophthalmology LMU University Hospital LMU Medizin LMU Munich  Germany  uni-muenchen.de"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology LMU University Hospital LMU Medizin LMU Munich  Germany  uni-muenchen.de","institution_ids":["https://openalex.org/I3018771216","https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103079927","display_name":"A. V. Fedorenko","orcid":"https://orcid.org/0009-0008-1090-2477","observed_orcids":["https://orcid.org/0009-0008-1090-2477"]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Alisa Fedorenko","raw_affiliation_strings":["Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","Stem Cell Unit Clinic for Cardiology and Pneumology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":"https://orcid.org/0009-0008-1090-2477","affiliations":[{"raw_affiliation_string":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]},{"raw_affiliation_string":"Stem Cell Unit Clinic for Cardiology and Pneumology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113915166","display_name":"Carolin Strohmeyer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Carolin Strohmeyer","raw_affiliation_strings":["Department of Ophthalmology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5151762167","display_name":"Rozhin Bayati","orcid":"https://orcid.org/0009-0003-2838-5862","observed_orcids":["https://orcid.org/0009-0003-2838-5862"]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]},{"id":"https://openalex.org/I74656192","display_name":"University of G\u00f6ttingen","ror":"https://ror.org/01y9bpm73","country_code":"DE","type":"education","lineage":["https://openalex.org/I74656192"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Rozhin Bayati","raw_affiliation_strings":["Collaborative Research Center CRC 1690 \u201cDisease Mechanisms and Functional Restoration of Sensory and Motor Systems\u201d University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":"https://orcid.org/0009-0003-2838-5862","affiliations":[{"raw_affiliation_string":"Collaborative Research Center CRC 1690 \u201cDisease Mechanisms and Functional Restoration of Sensory and Motor Systems\u201d University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","institution_ids":["https://openalex.org/I74656192"]},{"raw_affiliation_string":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100369213","display_name":"Yun Li","orcid":"https://orcid.org/0000-0002-5361-1791","observed_orcids":["https://orcid.org/0000-0002-5361-1791"]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Yun Li","raw_affiliation_strings":["Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082639556","display_name":"G\u00f6khan Yigit","orcid":"https://orcid.org/0000-0003-2777-0198","observed_orcids":["https://orcid.org/0000-0003-2777-0198","https://orcid.org/0000-0001-7381-0731"]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"G\u00f6khan Yigit","raw_affiliation_strings":["Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":"https://orcid.org/0000-0003-2777-0198","affiliations":[{"raw_affiliation_string":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058004513","display_name":"Emrah Kaygusuz","orcid":"https://orcid.org/0000-0001-6984-8526","observed_orcids":["https://orcid.org/0000-0001-6984-8526"]},"institutions":[{"id":"https://openalex.org/I169255954","display_name":"Bilecik \u015eeyh Edebali \u00dcniversitesi","ror":"https://ror.org/00dzfx204","country_code":"TR","type":"education","lineage":["https://openalex.org/I169255954"]},{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]}],"countries":["DE","TR"],"is_corresponding":false,"raw_author_name":"Emrah Kaygusuz","raw_affiliation_strings":["Department of Molecular Biology and Genetics Faculty of Science Bilecik \u015eeyh Edebali University  Bilecik T\u00fcrkiye  bilecik.edu.tr","Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":"https://orcid.org/0000-0001-6984-8526","affiliations":[{"raw_affiliation_string":"Department of Molecular Biology and Genetics Faculty of Science Bilecik \u015eeyh Edebali University  Bilecik T\u00fcrkiye  bilecik.edu.tr","institution_ids":["https://openalex.org/I169255954"]},{"raw_affiliation_string":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058592243","display_name":"\u00d3scar Guti\u00e9rrez\u2010Guti\u00e9rrez","orcid":"https://orcid.org/0000-0003-1306-0611","observed_orcids":["https://orcid.org/0000-0003-1306-0611"]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Oscar Guti\u00e9rrez-Guti\u00e9rrez","raw_affiliation_strings":["Stem Cell Unit Clinic for Cardiology and Pneumology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":"https://orcid.org/0000-0003-1306-0611","affiliations":[{"raw_affiliation_string":"Stem Cell Unit Clinic for Cardiology and Pneumology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093778292","display_name":"Marianne Gaubert","orcid":"https://orcid.org/0009-0007-6288-2984","observed_orcids":["https://orcid.org/0009-0007-6288-2984"]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Marianne Gaubert","raw_affiliation_strings":["German Center for Child and Adolescent Health (DZKJ) Partner Site G\u00f6ttingen  G\u00f6ttingen Germany","Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":"https://orcid.org/0009-0007-6288-2984","affiliations":[{"raw_affiliation_string":"German Center for Child and Adolescent Health (DZKJ) Partner Site G\u00f6ttingen  G\u00f6ttingen Germany","institution_ids":[]},{"raw_affiliation_string":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001021463","display_name":"Behnam Javanmardi","orcid":"https://orcid.org/0000-0002-9317-6114","observed_orcids":["https://orcid.org/0000-0002-9317-6114"]},"institutions":[{"id":"https://openalex.org/I2799391451","display_name":"University Hospital Bonn","ror":"https://ror.org/01xnwqx93","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799391451"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Behnam Javanmardi","raw_affiliation_strings":["Institute for Genomic Statistics and Bioinformatics University Hospital Bonn  Bonn Germany  uni-bonn.de"],"raw_orcid":"https://orcid.org/0000-0002-9317-6114","affiliations":[{"raw_affiliation_string":"Institute for Genomic Statistics and Bioinformatics University Hospital Bonn  Bonn Germany  uni-bonn.de","institution_ids":["https://openalex.org/I2799391451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002471399","display_name":"K. Boss","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Karin Boss","raw_affiliation_strings":["Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031676151","display_name":"Antonia Kowallick","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Antonia Kowallick","raw_affiliation_strings":["Department of Ophthalmology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013713722","display_name":"Peter Michael Krawitz","orcid":"https://orcid.org/0000-0002-3194-8625","observed_orcids":["https://orcid.org/0000-0002-3194-8625"]},"institutions":[{"id":"https://openalex.org/I2799391451","display_name":"University Hospital Bonn","ror":"https://ror.org/01xnwqx93","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799391451"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Peter Krawitz","raw_affiliation_strings":["Institute for Genomic Statistics and Bioinformatics University Hospital Bonn  Bonn Germany  uni-bonn.de"],"raw_orcid":"https://orcid.org/0000-0002-3194-8625","affiliations":[{"raw_affiliation_string":"Institute for Genomic Statistics and Bioinformatics University Hospital Bonn  Bonn Germany  uni-bonn.de","institution_ids":["https://openalex.org/I2799391451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013075360","display_name":"Stylianos Michalakis","orcid":"https://orcid.org/0000-0001-5092-9238","observed_orcids":["https://orcid.org/0000-0001-5092-9238"]},"institutions":[{"id":"https://openalex.org/I3018771216","display_name":"LMU Klinikum","ror":"https://ror.org/02jet3w32","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I3018771216","https://openalex.org/I8204097"]},{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stylianos Michalakis","raw_affiliation_strings":["Department of Ophthalmology LMU University Hospital LMU Medizin LMU Munich  Germany  uni-muenchen.de","Munich Center for Cell & Gene Therapy LMU University Hospital LMU Medizin LMU Munich  Munich Germany  uni-muenchen.de"],"raw_orcid":"https://orcid.org/0000-0001-5092-9238","affiliations":[{"raw_affiliation_string":"Department of Ophthalmology LMU University Hospital LMU Medizin LMU Munich  Germany  uni-muenchen.de","institution_ids":["https://openalex.org/I3018771216","https://openalex.org/I8204097"]},{"raw_affiliation_string":"Munich Center for Cell & Gene Therapy LMU University Hospital LMU Medizin LMU Munich  Munich Germany  uni-muenchen.de","institution_ids":["https://openalex.org/I3018771216","https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021919197","display_name":"Marius Ueffing","orcid":"https://orcid.org/0000-0003-2209-2113","observed_orcids":["https://orcid.org/0000-0003-2209-2113"]},"institutions":[{"id":"https://openalex.org/I4210094118","display_name":"Universit\u00e4tsklinikum T\u00fcbingen","ror":"https://ror.org/00pjgxh97","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094118"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Marius Ueffing","raw_affiliation_strings":["Institute for Ophthalmic Research Center for Ophthalmology University Hospital T\u00fcbingen  T\u00fcbingen Germany  uni-tuebingen.de"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Ophthalmic Research Center for Ophthalmology University Hospital T\u00fcbingen  T\u00fcbingen Germany  uni-tuebingen.de","institution_ids":["https://openalex.org/I4210094118"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054336885","display_name":"Wolfram\u2010Hubertus Zimmermann","orcid":"https://orcid.org/0000-0003-1190-4040","observed_orcids":["https://orcid.org/0000-0003-1190-4040"]},"institutions":[{"id":"https://openalex.org/I4210107844","display_name":"Fraunhofer Institute for Translational Medicine and Pharmacology","ror":"https://ror.org/01s1h3j07","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210107844","https://openalex.org/I4923324"]},{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]},{"id":"https://openalex.org/I4210127591","display_name":"German Centre for Cardiovascular Research","ror":"https://ror.org/031t5w623","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210127591","https://openalex.org/I4405256427"]},{"id":"https://openalex.org/I4387156107","display_name":"Multiscale Bioimaging","ror":"https://ror.org/05xy1nn52","country_code":"DE","type":"education","lineage":["https://openalex.org/I4387156107","https://openalex.org/I74656192"]},{"id":"https://openalex.org/I74656192","display_name":"University of G\u00f6ttingen","ror":"https://ror.org/01y9bpm73","country_code":"DE","type":"education","lineage":["https://openalex.org/I74656192"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Wolfram-Hubertus Zimmermann","raw_affiliation_strings":["Cluster of Excellence \u201cMultiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells\u201d (MBExC) University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","DZHK (German Centre for Cardiovascular Research) Partner Site Lower Saxony  G\u00f6ttingen Germany  dzhk.de","Institute of Pharmacology and Toxicology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","Translational Neuroinflammation and Automated Microscopy Fraunhofer Institute for Translational Medicine and Pharmacology ITMP  G\u00f6ttingen Germany"],"raw_orcid":"https://orcid.org/0000-0003-1190-4040","affiliations":[{"raw_affiliation_string":"Cluster of Excellence \u201cMultiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells\u201d (MBExC) University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","institution_ids":["https://openalex.org/I4387156107","https://openalex.org/I74656192"]},{"raw_affiliation_string":"DZHK (German Centre for Cardiovascular Research) Partner Site Lower Saxony  G\u00f6ttingen Germany  dzhk.de","institution_ids":["https://openalex.org/I4210127591"]},{"raw_affiliation_string":"Institute of Pharmacology and Toxicology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]},{"raw_affiliation_string":"Translational Neuroinflammation and Automated Microscopy Fraunhofer Institute for Translational Medicine and Pharmacology ITMP  G\u00f6ttingen Germany","institution_ids":["https://openalex.org/I4210107844"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109029048","display_name":"Hans Hoerauf","orcid":"https://orcid.org/0009-0009-2486-3488","observed_orcids":["https://orcid.org/0009-0009-2486-3488"]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]},{"id":"https://openalex.org/I4405262530","display_name":"Else Kr\u00f6ner Fresenius Center for Optogenetic Therapies","ror":"https://ror.org/03vwt8p73","country_code":"DE","type":"education","lineage":["https://openalex.org/I4210116730","https://openalex.org/I4405262530"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Hans Hoerauf","raw_affiliation_strings":["Department of Ophthalmology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","Else Kr\u00f6ner Fresenius Center for Optogenetic Therapies (EKFZ) University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":"https://orcid.org/0009-0009-2486-3488","affiliations":[{"raw_affiliation_string":"Department of Ophthalmology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]},{"raw_affiliation_string":"Else Kr\u00f6ner Fresenius Center for Optogenetic Therapies (EKFZ) University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730","https://openalex.org/I4405262530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064539315","display_name":"Hildegard B\u00fcning","orcid":"https://orcid.org/0000-0002-3365-6933","observed_orcids":["https://orcid.org/0000-0002-3365-6933"]},"institutions":[{"id":"https://openalex.org/I34809795","display_name":"Medizinische Hochschule Hannover","ror":"https://ror.org/00f2yqf98","country_code":"DE","type":"education","lineage":["https://openalex.org/I34809795"]},{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]},{"id":"https://openalex.org/I4405262530","display_name":"Else Kr\u00f6ner Fresenius Center for Optogenetic Therapies","ror":"https://ror.org/03vwt8p73","country_code":"DE","type":"education","lineage":["https://openalex.org/I4210116730","https://openalex.org/I4405262530"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Hildegard B\u00fcning","raw_affiliation_strings":["Else Kr\u00f6ner Fresenius Center for Optogenetic Therapies (EKFZ) University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","Laboratory for Experimental Gene and Cell Therapy Institute of Experimental Hematology Hannover Medical School  Hannover Germany  mh-hannover.de"],"raw_orcid":"https://orcid.org/0000-0002-3365-6933","affiliations":[{"raw_affiliation_string":"Else Kr\u00f6ner Fresenius Center for Optogenetic Therapies (EKFZ) University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730","https://openalex.org/I4405262530"]},{"raw_affiliation_string":"Laboratory for Experimental Gene and Cell Therapy Institute of Experimental Hematology Hannover Medical School  Hannover Germany  mh-hannover.de","institution_ids":["https://openalex.org/I34809795"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015160966","display_name":"Nicolas Feltgen","orcid":"https://orcid.org/0000-0002-6857-3003","observed_orcids":["https://orcid.org/0000-0002-6857-3003"]},"institutions":[{"id":"https://openalex.org/I2802542264","display_name":"University Hospital of Basel","ror":"https://ror.org/04k51q396","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I2802542264"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Nicolas Feltgen","raw_affiliation_strings":["Eye Hospital University Hospital Basel  Basel Switzerland  unispital-basel.ch"],"raw_orcid":"https://orcid.org/0000-0002-6857-3003","affiliations":[{"raw_affiliation_string":"Eye Hospital University Hospital Basel  Basel Switzerland  unispital-basel.ch","institution_ids":["https://openalex.org/I2802542264"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061580702","display_name":"Lukas Cyganek","orcid":"https://orcid.org/0000-0001-9120-1382","observed_orcids":["https://orcid.org/0000-0001-9120-1382"]},"institutions":[{"id":"https://openalex.org/I4210107844","display_name":"Fraunhofer Institute for Translational Medicine and Pharmacology","ror":"https://ror.org/01s1h3j07","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210107844","https://openalex.org/I4923324"]},{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]},{"id":"https://openalex.org/I4210127591","display_name":"German Centre for Cardiovascular Research","ror":"https://ror.org/031t5w623","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210127591","https://openalex.org/I4405256427"]},{"id":"https://openalex.org/I4387156107","display_name":"Multiscale Bioimaging","ror":"https://ror.org/05xy1nn52","country_code":"DE","type":"education","lineage":["https://openalex.org/I4387156107","https://openalex.org/I74656192"]},{"id":"https://openalex.org/I74656192","display_name":"University of G\u00f6ttingen","ror":"https://ror.org/01y9bpm73","country_code":"DE","type":"education","lineage":["https://openalex.org/I74656192"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Lukas Cyganek","raw_affiliation_strings":["Cluster of Excellence \u201cMultiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells\u201d (MBExC) University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","DZHK (German Centre for Cardiovascular Research) Partner Site Lower Saxony  G\u00f6ttingen Germany  dzhk.de","Stem Cell Unit Clinic for Cardiology and Pneumology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","Translational Neuroinflammation and Automated Microscopy Fraunhofer Institute for Translational Medicine and Pharmacology ITMP  G\u00f6ttingen Germany"],"raw_orcid":"https://orcid.org/0000-0001-9120-1382","affiliations":[{"raw_affiliation_string":"Cluster of Excellence \u201cMultiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells\u201d (MBExC) University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","institution_ids":["https://openalex.org/I4387156107","https://openalex.org/I74656192"]},{"raw_affiliation_string":"DZHK (German Centre for Cardiovascular Research) Partner Site Lower Saxony  G\u00f6ttingen Germany  dzhk.de","institution_ids":["https://openalex.org/I4210127591"]},{"raw_affiliation_string":"Stem Cell Unit Clinic for Cardiology and Pneumology University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]},{"raw_affiliation_string":"Translational Neuroinflammation and Automated Microscopy Fraunhofer Institute for Translational Medicine and Pharmacology ITMP  G\u00f6ttingen Germany","institution_ids":["https://openalex.org/I4210107844"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5084486104","display_name":"Bernd Wollnik","orcid":"https://orcid.org/0000-0003-2589-0364","observed_orcids":["https://orcid.org/0000-0003-2589-0364"]},"institutions":[{"id":"https://openalex.org/I4210116730","display_name":"Universit\u00e4tsmedizin G\u00f6ttingen","ror":"https://ror.org/021ft0n22","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210116730"]},{"id":"https://openalex.org/I4210127591","display_name":"German Centre for Cardiovascular Research","ror":"https://ror.org/031t5w623","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210127591","https://openalex.org/I4405256427"]},{"id":"https://openalex.org/I4387156107","display_name":"Multiscale Bioimaging","ror":"https://ror.org/05xy1nn52","country_code":"DE","type":"education","lineage":["https://openalex.org/I4387156107","https://openalex.org/I74656192"]},{"id":"https://openalex.org/I74656192","display_name":"University of G\u00f6ttingen","ror":"https://ror.org/01y9bpm73","country_code":"DE","type":"education","lineage":["https://openalex.org/I74656192"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Bernd Wollnik","raw_affiliation_strings":["Cluster of Excellence \u201cMultiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells\u201d (MBExC) University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","Collaborative Research Center CRC 1690 \u201cDisease Mechanisms and Functional Restoration of Sensory and Motor Systems\u201d University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","DZHK (German Centre for Cardiovascular Research) Partner Site Lower Saxony  G\u00f6ttingen Germany  dzhk.de","German Center for Child and Adolescent Health (DZKJ) Partner Site G\u00f6ttingen  G\u00f6ttingen Germany","Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"],"raw_orcid":"https://orcid.org/0000-0003-2589-0364","affiliations":[{"raw_affiliation_string":"Cluster of Excellence \u201cMultiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells\u201d (MBExC) University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","institution_ids":["https://openalex.org/I4387156107","https://openalex.org/I74656192"]},{"raw_affiliation_string":"Collaborative Research Center CRC 1690 \u201cDisease Mechanisms and Functional Restoration of Sensory and Motor Systems\u201d University of G\u00f6ttingen  G\u00f6ttingen Germany  uni-goettingen.de","institution_ids":["https://openalex.org/I74656192"]},{"raw_affiliation_string":"DZHK (German Centre for Cardiovascular Research) Partner Site Lower Saxony  G\u00f6ttingen Germany  dzhk.de","institution_ids":["https://openalex.org/I4210127591"]},{"raw_affiliation_string":"German Center for Child and Adolescent Health (DZKJ) Partner Site G\u00f6ttingen  G\u00f6ttingen Germany","institution_ids":[]},{"raw_affiliation_string":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu","institution_ids":["https://openalex.org/I4210116730"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5032085633","https://openalex.org/A5084486104"],"corresponding_institution_ids":["https://openalex.org/I4210116730","https://openalex.org/I4210127591","https://openalex.org/I4387156107","https://openalex.org/I74656192"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":{"value":2740,"currency":"USD","value_usd":2740},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.51923959,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"2026","issue":"1","first_page":"1839164","last_page":"1839164"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.001500000013038516,"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/T10170","display_name":"Retinal Diseases and Treatments","score":0.00019999999494757503,"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/x-linked-retinal-degeneration","display_name":"X-linked retinal degeneration","score":0.8140000104904175},{"id":"https://openalex.org/keywords/rp2-gene","display_name":"RP2 gene","score":0.6769999861717224},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.8700000047683716},{"id":"https://openalex.org/keywords/loss-of-function","display_name":"loss of function","score":0.5080000162124634},{"id":"https://openalex.org/keywords/inherited-retinal-disease","display_name":"inherited retinal disease","score":0.6740000247955322},{"id":"https://openalex.org/keywords/treatment-development","display_name":"treatment development","score":0.5759999752044678}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7559000253677368},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6953999996185303},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5430999994277954},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.48399999737739563},{"id":"https://openalex.org/C62923972","wikidata":"https://www.wikidata.org/wiki/Q600499","display_name":"Nonsense","level":3,"score":0.4830000102519989},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.47440001368522644},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.38679999113082886},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.3718000054359436},{"id":"https://openalex.org/C63363279","wikidata":"https://www.wikidata.org/wiki/Q5133848","display_name":"Clinical significance","level":2,"score":0.362199991941452},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3409999907016754},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.33649998903274536},{"id":"https://openalex.org/C149364088","wikidata":"https://www.wikidata.org/wiki/Q185917","display_name":"Translation (biology)","level":4,"score":0.33480000495910645},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.33219999074935913},{"id":"https://openalex.org/C20580545","wikidata":"https://www.wikidata.org/wiki/Q28354","display_name":"Stop codon","level":3,"score":0.3197000026702881},{"id":"https://openalex.org/C89611455","wikidata":"https://www.wikidata.org/wiki/Q6804646","display_name":"Mechanism (biology)","level":2,"score":0.31279999017715454},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2939000129699707},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.2782999873161316},{"id":"https://openalex.org/C2778384578","wikidata":"https://www.wikidata.org/wiki/Q16930687","display_name":"Therapeutic approach","level":3,"score":0.27549999952316284},{"id":"https://openalex.org/C2779974597","wikidata":"https://www.wikidata.org/wiki/Q28448986","display_name":"Clinical Practice","level":2,"score":0.25189998745918274},{"id":"https://openalex.org/C47289529","wikidata":"https://www.wikidata.org/wiki/Q908550","display_name":"Open reading frame","level":4,"score":0.250900000333786}],"mesh":[{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012164","descriptor_name":"Retinal Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019204","descriptor_name":"GTP-Binding Proteins","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":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057170","descriptor_name":"Translational Research, Biomedical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1155/humu/1839164","doi":"https://doi.org/10.1155/humu/1839164","is_oa":true,"landing_page_url":"https://doi.org/10.1155/humu/1839164","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/humu/1839164","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"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 Mutation","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13676036","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13676036/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13676036/pdf/HUMU-2026-1839164.pdf","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 Mutat","raw_type":"Text"},{"id":"pmid:42892975","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42892975","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 mutation","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1155/humu/1839164","doi":"https://doi.org/10.1155/humu/1839164","is_oa":true,"landing_page_url":"https://doi.org/10.1155/humu/1839164","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/humu/1839164","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"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 Mutation","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9907000064849854,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G3445732291","display_name":null,"funder_award_id":"EXC 2067","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G584537252","display_name":null,"funder_award_id":"EXC 2067\u20101","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G6004418582","display_name":"EXC 2067: Multiscale Bioimaging: Von molekularen Maschinen zu Netzwerken erregbarer Zellen","funder_award_id":"390729940","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"}],"funders":[{"id":"https://openalex.org/F4320312069","display_name":"Deutsches Zentrum f\u00fcr Herz-Kreislaufforschung","ror":"https://ror.org/031t5w623"},{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7222826752.pdf","grobid_xml":"https://content.openalex.org/works/W7222826752.grobid-xml"},"referenced_works_count":116,"referenced_works":["https://openalex.org/W55866065","https://openalex.org/W1195913131","https://openalex.org/W1565206912","https://openalex.org/W1907744285","https://openalex.org/W1963846033","https://openalex.org/W1971252547","https://openalex.org/W1972635378","https://openalex.org/W1977442119","https://openalex.org/W1982227834","https://openalex.org/W2018913979","https://openalex.org/W2025581545","https://openalex.org/W2026258465","https://openalex.org/W2029584153","https://openalex.org/W2032342270","https://openalex.org/W2040796930","https://openalex.org/W2041395551","https://openalex.org/W2046703219","https://openalex.org/W2047179478","https://openalex.org/W2051978340","https://openalex.org/W2057898040","https://openalex.org/W2059427677","https://openalex.org/W2061945774","https://openalex.org/W2062962534","https://openalex.org/W2067309915","https://openalex.org/W2068123498","https://openalex.org/W2078839742","https://openalex.org/W2084092809","https://openalex.org/W2084989979","https://openalex.org/W2086156738","https://openalex.org/W2098711567","https://openalex.org/W2100142934","https://openalex.org/W2105845113","https://openalex.org/W2114050017","https://openalex.org/W2115302109","https://openalex.org/W2120157081","https://openalex.org/W2121620960","https://openalex.org/W2124708335","https://openalex.org/W2125486718","https://openalex.org/W2139575725","https://openalex.org/W2142457781","https://openalex.org/W2149567057","https://openalex.org/W2149736600","https://openalex.org/W2159055427","https://openalex.org/W2159510829","https://openalex.org/W2160986529","https://openalex.org/W2161723666","https://openalex.org/W2171366753","https://openalex.org/W2174602966","https://openalex.org/W2208347620","https://openalex.org/W2293858458","https://openalex.org/W2585468109","https://openalex.org/W2588771218","https://openalex.org/W2688351906","https://openalex.org/W2783665516","https://openalex.org/W2894129002","https://openalex.org/W2912684492","https://openalex.org/W2922545782","https://openalex.org/W2933706309","https://openalex.org/W2942553675","https://openalex.org/W2944356298","https://openalex.org/W2980712121","https://openalex.org/W2993879222","https://openalex.org/W3010937784","https://openalex.org/W3034839341","https://openalex.org/W3035100062","https://openalex.org/W3082581392","https://openalex.org/W3087102910","https://openalex.org/W3087990637","https://openalex.org/W3092667519","https://openalex.org/W3129547287","https://openalex.org/W3131822367","https://openalex.org/W3173973658","https://openalex.org/W3177828909","https://openalex.org/W3181117257","https://openalex.org/W3186932956","https://openalex.org/W3213671093","https://openalex.org/W4200163705","https://openalex.org/W4210747798","https://openalex.org/W4211099883","https://openalex.org/W4220794351","https://openalex.org/W4224000672","https://openalex.org/W4245274396","https://openalex.org/W4283781395","https://openalex.org/W4283824396","https://openalex.org/W4288077758","https://openalex.org/W4306385458","https://openalex.org/W4309681206","https://openalex.org/W4309703601","https://openalex.org/W4312194665","https://openalex.org/W4313650006","https://openalex.org/W4318931751","https://openalex.org/W4319656590","https://openalex.org/W4323532679","https://openalex.org/W4327685840","https://openalex.org/W4377011953","https://openalex.org/W4384120538","https://openalex.org/W4385839635","https://openalex.org/W4386923407","https://openalex.org/W4388719383","https://openalex.org/W4389455351","https://openalex.org/W4391534764","https://openalex.org/W4399239148","https://openalex.org/W4400808669","https://openalex.org/W4401556466","https://openalex.org/W4402597399","https://openalex.org/W4404374943","https://openalex.org/W4404469966","https://openalex.org/W4404529014","https://openalex.org/W4404991848","https://openalex.org/W4406152275","https://openalex.org/W4409154927","https://openalex.org/W4411428687","https://openalex.org/W4412692141","https://openalex.org/W4413447791","https://openalex.org/W4414225018","https://openalex.org/W7162261602"],"related_works":["https://openalex.org/W3082581392","https://openalex.org/W4309681206","https://openalex.org/W2538871089","https://openalex.org/W4388719383","https://openalex.org/W1971252547","https://openalex.org/W2139575725","https://openalex.org/W2157646527","https://openalex.org/W4362634919","https://openalex.org/W1977442119","https://openalex.org/W2125486718"],"abstract_inverted_index":{"Pathogenic":[0],"variants":[1,93,105,122,144,160,173,189],"in":[2,138,161,174,190],"RP2":[3,6,42,70,110,143,213,223],"cause":[4],"X\u2010linked":[5],"\u2010associated":[7,43,71,224],"retinopathy,":[8],"a":[9,167,184,208],"rare":[10],"inherited":[11],"retinal":[12],"disorder":[13],"typically":[14],"characterized":[15],"by":[16,179],"childhood":[17],"onset":[18],"and":[19,38,47,66,80,98,103,158,183,204,226,239],"progression":[20],"to":[21,233],"severe":[22],"visual":[23],"impairment":[24],"within":[25],"the":[26,78,113,131,219],"first":[27],"three":[28],"decades":[29],"of":[30,62,77,82,88,109,123,134,142,170,186,211,222],"life.":[31],"Despite":[32],"its":[33],"clinical":[34,37,55,202,240],"severity,":[35],"comprehensive":[36],"genetic":[39,200],"data":[40],"on":[41,69,197],"retinopathy":[44,72,225],"remain":[45],"limited":[46],"no":[48],"therapeutic":[49,67,205,237],"approaches":[50],"have":[51],"yet":[52],"progressed":[53],"toward":[54],"application.":[56],"Here,":[57],"we":[58,165],"provide":[59],"an":[60,75],"overview":[61],"current":[63,220],"molecular,":[64],"clinical,":[65],"knowledge":[68,196],"together":[73],"with":[74,207],"analysis":[76,210],"spectrum":[79],"distribution":[81,141],"clinically":[83],"classified,":[84],"ClinVar\u2010curated":[85],"variants.":[86],"Analysis":[87],"325":[89],"ACMG/AMP":[90],"Class":[91,151,156,171,187],"3\u20135":[92],"revealed":[94],"that":[95,230],"among":[96],"pathogenic":[97,100],"likely":[99],"variants,":[101,129,153,182,201,214],"frameshift":[102],"nonsense":[104],"predominated,":[106],"supporting":[107],"loss":[108],"function":[111],"as":[112,117],"major":[114],"disease":[115],"mechanism":[116],"previously":[118],"described.":[119],"In":[120],"contrast,":[121],"uncertain":[124],"significance":[125],"were":[126],"largely":[127],"missense":[128,135],"underscoring":[130],"particular":[132],"challenge":[133],"variant":[136],"interpretation":[137],"RP2.":[139],"Exon":[140],"did":[145],"not":[146],"deviate":[147],"from":[148],"expectation":[149],"for":[150,155,236],"3":[152],"or":[154],"4":[157],"5":[159],"exons":[162],"2\u20134.":[163],"However,":[164],"observed":[166],"significant":[168],"enrichment":[169],"4/5":[172,188],"exon":[175,191],"1,":[176],"driven":[177],"mainly":[178],"initiator":[180],"codon":[181],"depletion":[185],"5.":[192],"By":[193],"integrating":[194],"published":[195],"molecular":[198],"mechanisms,":[199],"progression,":[203],"development,":[206],"detailed":[209],"ClinVar\u2010annotated":[212],"this":[215],"narrative":[216],"review":[217],"outlines":[218],"understanding":[221],"identifies":[227],"key":[228],"gaps":[229],"will":[231],"need":[232],"be":[234],"addressed":[235],"development":[238],"translation.":[241],"Trial":[242],"Registration":[243],":":[244],"ClinicalTrials.gov:":[245],"NCT06982417":[246]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2026-10-18T00:00:00"}