{"id":"https://openalex.org/W4403329902","doi":"https://doi.org/10.1038/s41431-024-01703-x","title":"Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome","display_name":"Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome","publication_year":2024,"publication_date":"2024-10-11","ids":{"openalex":"https://openalex.org/W4403329902","doi":"https://doi.org/10.1038/s41431-024-01703-x","pmid":"https://pubmed.ncbi.nlm.nih.gov/39394465","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11711660"},"language":"en","primary_location":{"id":"doi:10.1038/s41431-024-01703-x","doi":"https://doi.org/10.1038/s41431-024-01703-x","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-024-01703-x","pdf_url":"https://www.nature.com/articles/s41431-024-01703-x.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.nature.com/articles/s41431-024-01703-x.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034455248","display_name":"Fulvio D\u2019Abrusco","orcid":"https://orcid.org/0000-0003-2470-665X","observed_orcids":["https://orcid.org/0000-0003-2470-665X"]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Fulvio D\u2019Abrusco","raw_affiliation_strings":["Department of Molecular Medicine, University of Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062124096","display_name":"Valentina Serpieri","orcid":"https://orcid.org/0000-0002-3553-0066","observed_orcids":["https://orcid.org/0000-0002-3553-0066"]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Valentina Serpieri","raw_affiliation_strings":["Department of Molecular Medicine, University of Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109024745","display_name":"Cecilia Maria Taccagni","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Cecilia Maria Taccagni","raw_affiliation_strings":["Department of Molecular Medicine, University of Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058858677","display_name":"Jessica Garau","orcid":"https://orcid.org/0000-0002-9885-1369","observed_orcids":["https://orcid.org/0000-0002-9885-1369"]},"institutions":[{"id":"https://openalex.org/I4210095701","display_name":"Fondazione Istituto Neurologico Nazionale Casimiro Mondino","ror":"https://ror.org/009h0v784","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210095701","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Jessica Garau","raw_affiliation_strings":["Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy","institution_ids":["https://openalex.org/I4210095701"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Luca Cattaneo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Luca Cattaneo","raw_affiliation_strings":["Department of Molecular Medicine, University of Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109024746","display_name":"Monica Boggioni","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Monica Boggioni","raw_affiliation_strings":["Department of Molecular Medicine, University of Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022767627","display_name":"Simone Gana","orcid":"https://orcid.org/0000-0001-6544-7135","observed_orcids":["https://orcid.org/0000-0001-6544-7135"]},"institutions":[{"id":"https://openalex.org/I4210095701","display_name":"Fondazione Istituto Neurologico Nazionale Casimiro Mondino","ror":"https://ror.org/009h0v784","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210095701","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Simone Gana","raw_affiliation_strings":["Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy","institution_ids":["https://openalex.org/I4210095701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045045294","display_name":"Roberta Battini","orcid":"https://orcid.org/0000-0002-7889-1355","observed_orcids":["https://orcid.org/0000-0002-7889-1355"]},"institutions":[{"id":"https://openalex.org/I108290504","display_name":"University of Pisa","ror":"https://ror.org/03ad39j10","country_code":"IT","type":"education","lineage":["https://openalex.org/I108290504"]},{"id":"https://openalex.org/I4210126460","display_name":"Fondazione Stella Maris","ror":"https://ror.org/02w8ez808","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126460","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Roberta Battini","raw_affiliation_strings":["Department of Clinical ad Experimental Medicine, University of Pisa, Pisa, Italy","IRCCS Stella Maris Foundation, Pisa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical ad Experimental Medicine, University of Pisa, Pisa, Italy","institution_ids":["https://openalex.org/I108290504"]},{"raw_affiliation_string":"IRCCS Stella Maris Foundation, Pisa, Italy","institution_ids":["https://openalex.org/I4210126460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059742070","display_name":"Enrico Bertini","orcid":"https://orcid.org/0000-0001-9276-4590","observed_orcids":["https://orcid.org/0000-0001-9276-4590"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Enrico Bertini","raw_affiliation_strings":["Research Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Ges\u00f9 Pediatric Hospital, Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0001-9276-4590","affiliations":[{"raw_affiliation_string":"Research Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Ges\u00f9 Pediatric Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012668233","display_name":"Ginevra Zanni","orcid":"https://orcid.org/0000-0002-6367-1843","observed_orcids":["https://orcid.org/0000-0002-6367-1843"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ginevra Zanni","raw_affiliation_strings":["Research Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Ges\u00f9 Pediatric Hospital, Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-6367-1843","affiliations":[{"raw_affiliation_string":"Research Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Ges\u00f9 Pediatric Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068002114","display_name":"Eugen Boltshauser","orcid":"https://orcid.org/0000-0002-0791-2905","observed_orcids":["https://orcid.org/0000-0002-0791-2905"]},"institutions":[{"id":"https://openalex.org/I4210128593","display_name":"University Children's Hospital Zurich","ror":"https://ror.org/035vb3h42","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210128593"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Eugen Boltshauser","raw_affiliation_strings":["University Children's Hospital, Z\u00fcrich, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Children's Hospital, Z\u00fcrich, Switzerland","institution_ids":["https://openalex.org/I4210128593"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042852273","display_name":"Renato Borgatti","orcid":"https://orcid.org/0000-0001-8165-4994","observed_orcids":["https://orcid.org/0000-0001-8165-4994"]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]},{"id":"https://openalex.org/I4210095701","display_name":"Fondazione Istituto Neurologico Nazionale Casimiro Mondino","ror":"https://ror.org/009h0v784","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210095701","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Renato Borgatti","raw_affiliation_strings":["Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy","Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy","institution_ids":["https://openalex.org/I4210095701"]},{"raw_affiliation_string":"Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076733013","display_name":"Romina Romaniello","orcid":"https://orcid.org/0000-0002-8709-6732","observed_orcids":["https://orcid.org/0000-0002-8709-6732"]},"institutions":[{"id":"https://openalex.org/I4210095701","display_name":"Fondazione Istituto Neurologico Nazionale Casimiro Mondino","ror":"https://ror.org/009h0v784","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210095701","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Romina Romaniello","raw_affiliation_strings":["Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy","institution_ids":["https://openalex.org/I4210095701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043613312","display_name":"Sabrina Giovanna Signorini","orcid":"https://orcid.org/0000-0002-3808-4372","observed_orcids":["https://orcid.org/0000-0002-3808-4372"]},"institutions":[{"id":"https://openalex.org/I4210095701","display_name":"Fondazione Istituto Neurologico Nazionale Casimiro Mondino","ror":"https://ror.org/009h0v784","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210095701","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Sabrina Signorini","raw_affiliation_strings":["Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy","institution_ids":["https://openalex.org/I4210095701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109501723","display_name":"Vincenzo Leuzzi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Vincenzo Leuzzi","raw_affiliation_strings":["Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044236394","display_name":"Caterina Caputi","orcid":"https://orcid.org/0000-0001-5972-1185","observed_orcids":["https://orcid.org/0000-0001-5972-1185"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Caterina Caputi","raw_affiliation_strings":["Developmental Age Rehabilitation Service, Trasimeno District, Magione (PG), Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Developmental Age Rehabilitation Service, Trasimeno District, Magione (PG), Italy","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034473543","display_name":"Filippo Manti","orcid":"https://orcid.org/0000-0002-2012-8410","observed_orcids":["https://orcid.org/0000-0002-2012-8410"]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Filippo Manti","raw_affiliation_strings":["Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062745061","display_name":"Stefano D\u2019Arrigo","orcid":"https://orcid.org/0000-0001-5188-9418","observed_orcids":["https://orcid.org/0000-0001-5188-9418"]},"institutions":[{"id":"https://openalex.org/I4210164485","display_name":"Fondazione IRCCS Istituto Neurologico Carlo Besta","ror":"https://ror.org/05rbx8m02","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I4210164485"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Stefano D\u2019Arrigo","raw_affiliation_strings":["Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy","institution_ids":["https://openalex.org/I4210164485"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080099707","display_name":"Arianna De Laurentiis","orcid":"https://orcid.org/0009-0001-9520-7666","observed_orcids":["https://orcid.org/0009-0001-9520-7666"]},"institutions":[{"id":"https://openalex.org/I4210164485","display_name":"Fondazione IRCCS Istituto Neurologico Carlo Besta","ror":"https://ror.org/05rbx8m02","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I4210164485"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Arianna De Laurentiis","raw_affiliation_strings":["Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy","institution_ids":["https://openalex.org/I4210164485"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055048830","display_name":"Claudio Graziano","orcid":"https://orcid.org/0000-0003-3875-6869","observed_orcids":["https://orcid.org/0000-0003-3875-6869"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Claudio Graziano","raw_affiliation_strings":["Medical Genetics Unit, MeLabeT Department, AUSL Romagna, Cesena, Italy"],"raw_orcid":"https://orcid.org/0000-0003-3875-6869","affiliations":[{"raw_affiliation_string":"Medical Genetics Unit, MeLabeT Department, AUSL Romagna, Cesena, Italy","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055323325","display_name":"Johannes R. Lemke","orcid":"https://orcid.org/0000-0002-4435-6610","observed_orcids":["https://orcid.org/0000-0002-4435-6610"]},"institutions":[{"id":"https://openalex.org/I926574661","display_name":"Leipzig University","ror":"https://ror.org/03s7gtk40","country_code":"DE","type":"education","lineage":["https://openalex.org/I926574661"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Johannes R. Lemke","raw_affiliation_strings":["Institute of Human Genetics, University of Leipzig, Leipzig, Germany"],"raw_orcid":"https://orcid.org/0000-0002-4435-6610","affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University of Leipzig, Leipzig, Germany","institution_ids":["https://openalex.org/I926574661"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000428043","display_name":"Federica Morelli","orcid":"https://orcid.org/0000-0003-1239-9904","observed_orcids":["https://orcid.org/0000-0003-1239-9904"]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]},{"id":"https://openalex.org/I2802229882","display_name":"Centre Hospitalier Universitaire Vaudois","ror":"https://ror.org/05a353079","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I2802229882"]}],"countries":["CH","IT"],"is_corresponding":false,"raw_author_name":"Federica Morelli","raw_affiliation_strings":["Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy","Department of Psychiatry, Autism Spectrum Disorders and Related Conditions Service, Lausanne University Hospital (CHUV), Lausanne, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]},{"raw_affiliation_string":"Department of Psychiatry, Autism Spectrum Disorders and Related Conditions Service, Lausanne University Hospital (CHUV), Lausanne, Switzerland","institution_ids":["https://openalex.org/I2802229882"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034157776","display_name":"Danijela Petkovi\u0107 Ramad\u017ea","orcid":"https://orcid.org/0000-0002-8562-153X","observed_orcids":["https://orcid.org/0000-0002-8562-153X"]},"institutions":[{"id":"https://openalex.org/I138937732","display_name":"University Hospital Centre Zagreb","ror":"https://ror.org/00r9vb833","country_code":"HR","type":"healthcare","lineage":["https://openalex.org/I138937732"]},{"id":"https://openalex.org/I181343428","display_name":"University of Zagreb","ror":"https://ror.org/00mv6sv71","country_code":"HR","type":"education","lineage":["https://openalex.org/I181343428"]}],"countries":["HR"],"is_corresponding":false,"raw_author_name":"Danijela Petkovic\u0301 Ramadz\u030ca","raw_affiliation_strings":["Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia","institution_ids":["https://openalex.org/I138937732","https://openalex.org/I181343428"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053867192","display_name":"Fabio Sirchia","orcid":"https://orcid.org/0000-0002-4598-2023","observed_orcids":["https://orcid.org/0000-0002-4598-2023"]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Fabio Sirchia","raw_affiliation_strings":["Department of Molecular Medicine, University of Pavia, Pavia, Italy","Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]},{"raw_affiliation_string":"Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066281636","display_name":"Elisa Giorgio","orcid":"https://orcid.org/0000-0003-4076-4649","observed_orcids":["https://orcid.org/0000-0003-4076-4649"]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]},{"id":"https://openalex.org/I4210095701","display_name":"Fondazione Istituto Neurologico Nazionale Casimiro Mondino","ror":"https://ror.org/009h0v784","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210095701","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Elisa Giorgio","raw_affiliation_strings":["Department of Molecular Medicine, University of Pavia, Pavia, Italy","Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, University of Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]},{"raw_affiliation_string":"Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy","institution_ids":["https://openalex.org/I4210095701"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5068582387","display_name":"Enza Maria Valente","orcid":"https://orcid.org/0000-0002-0600-6820","observed_orcids":["https://orcid.org/0000-0002-0600-6820"]},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]},{"id":"https://openalex.org/I4210095701","display_name":"Fondazione Istituto Neurologico Nazionale Casimiro Mondino","ror":"https://ror.org/009h0v784","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210095701","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Enza Maria Valente","raw_affiliation_strings":["Department of Molecular Medicine, University of Pavia, Pavia, Italy. enzamaria.valente@unipv.it","Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy. enzamaria.valente@unipv.it","Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy"],"raw_orcid":"https://orcid.org/0000-0002-0600-6820","affiliations":[{"raw_affiliation_string":"Department of Molecular Medicine, University of Pavia, Pavia, Italy. enzamaria.valente@unipv.it","institution_ids":["https://openalex.org/I25217355"]},{"raw_affiliation_string":"Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy. enzamaria.valente@unipv.it","institution_ids":[]},{"raw_affiliation_string":"Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy","institution_ids":["https://openalex.org/I4210095701"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5068582387"],"corresponding_institution_ids":["https://openalex.org/I25217355","https://openalex.org/I4210095701"],"apc_list":{"value":3890,"currency":"USD","value_usd":3890},"apc_paid":{"value":3890,"currency":"USD","value_usd":3890},"fwci":2.4613,"has_fulltext":true,"cited_by_count":10,"citation_normalized_percentile":{"value":0.89931805,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":97,"max":98},"biblio":{"volume":"33","issue":"1","first_page":"72","last_page":"79"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.5005000233650208,"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"}},"topics":[{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.5005000233650208,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.47999998927116394,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0044999998062849045,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/joubert-syndrome","display_name":"Joubert syndrome","score":1.0},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.7870000004768372},{"id":"https://openalex.org/keywords/diagnostic-yield","display_name":"diagnostic yield","score":0.828000009059906},{"id":"https://openalex.org/keywords/ciliopathy","display_name":"ciliopathies","score":0.7059999704360962},{"id":"https://openalex.org/keywords/cc2d2a","display_name":"CC2D2A","score":1.0},{"id":"https://openalex.org/keywords/biallelic-mutations","display_name":"biallelic variants","score":0.7940000295639038},{"id":"https://openalex.org/keywords/second-hit","display_name":"second hit","score":0.652999997138977}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7530236840248108},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7408181428909302},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7081952095031738},{"id":"https://openalex.org/C2777386794","wikidata":"https://www.wikidata.org/wiki/Q1101694","display_name":"Joubert syndrome","level":3,"score":0.6672658324241638},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.6516809463500977},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.5368220806121826},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5083860754966736},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4930822551250458},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3635314702987671},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.2125656008720398},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.055946022272109985}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005124","descriptor_name":"Eye Abnormalities","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D005124","descriptor_name":"Eye Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018797","descriptor_name":"Cell Cycle Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056445","descriptor_name":"Cytoplasmic Dyneins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":8,"locations":[{"id":"doi:10.1038/s41431-024-01703-x","doi":"https://doi.org/10.1038/s41431-024-01703-x","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-024-01703-x","pdf_url":"https://www.nature.com/articles/s41431-024-01703-x.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11711660","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11711660","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":"Eur J Hum Genet","raw_type":"Text"},{"id":"pmid:39394465","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39394465","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":"European journal of human genetics : EJHG","raw_type":"Journal Article"},{"id":"pmh:oai:frl.publisso.de:frl:6505503","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11711660","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11711660/pdf/41431_2024_Article_1703.pdf","source":{"id":"https://openalex.org/S4377196269","display_name":"PUBLISSO (German National Library of Medicine)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210112663","host_organization_name":"ZB MED - Information Centre for Life Sciences","host_organization_lineage":["https://openalex.org/I4210112663"],"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":"European journal of human genetics, 33(1):72-79","raw_type":"Zeitschriftenartikel"},{"id":"pmh:oai:serval.unil.ch:BIB_0FE1AE2BBAEE","doi":null,"is_oa":true,"landing_page_url":"https://serval.unil.ch/notice/serval:BIB_0FE1AE2BBAEE","pdf_url":"https://serval.unil.ch/resource/serval:BIB_0FE1AE2BBAEE.P001/REF.pdf","source":{"id":"https://openalex.org/S4306401797","display_name":"SERVAL (Universit\u00e9 de Lausanne)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210093590","host_organization_name":"Swiss School of Archaeology in Greece","host_organization_lineage":["https://openalex.org/I4210093590"],"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":"European journal of human genetics, vol. 33, no. 1, pp. 72-79","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:arpi.unipi.it:11568/1285474","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11568/1285474","pdf_url":null,"source":{"id":"https://openalex.org/S4377196265","display_name":"CINECA IRIS Institutial research information system (University of Pisa)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I108290504","host_organization_name":"University of Pisa","host_organization_lineage":["https://openalex.org/I108290504"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:iris.unil.ch:iris/107461","doi":null,"is_oa":true,"landing_page_url":"https://iris.unil.ch/handle/iris/107461","pdf_url":null,"source":{"id":"https://openalex.org/S7407055444","display_name":"IRIS","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"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":null,"raw_type":"journal article"},{"id":"pmh:oai:iris.uniroma1.it:11573/1723554","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/11573/1723554","pdf_url":null,"source":{"id":"https://openalex.org/S4377196107","display_name":"IRIS Research product catalog (Sapienza University of Rome)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"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":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1038/s41431-024-01703-x","doi":"https://doi.org/10.1038/s41431-024-01703-x","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41431-024-01703-x","pdf_url":"https://www.nature.com/articles/s41431-024-01703-x.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9074000120162964}],"study_designs":[],"awards":[{"id":"https://openalex.org/G116144817","display_name":null,"funder_award_id":"RC 2023","funder_id":"https://openalex.org/F4320321781","funder_display_name":"Ministero della Salute"},{"id":"https://openalex.org/G2434939970","display_name":null,"funder_award_id":"RC 2023 line 1","funder_id":"https://openalex.org/F4320321781","funder_display_name":"Ministero della Salute"},{"id":"https://openalex.org/G2466822182","display_name":null,"funder_award_id":"RF-2019-12369368","funder_id":"https://openalex.org/F4320321781","funder_display_name":"Ministero della Salute"},{"id":"https://openalex.org/G2533073197","display_name":null,"funder_award_id":"MNESYS PE0000006","funder_id":"https://openalex.org/F4320321873","funder_display_name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca"},{"id":"https://openalex.org/G3105255457","display_name":null,"funder_award_id":"RF-2019","funder_id":"https://openalex.org/F4320321781","funder_display_name":"Ministero della Salute"},{"id":"https://openalex.org/G6163242873","display_name":null,"funder_award_id":"GGP20070","funder_id":"https://openalex.org/F4320321179","funder_display_name":"Fondazione Telethon"},{"id":"https://openalex.org/G6357140960","display_name":null,"funder_award_id":"Ricerca Finalizzata, RF-2019-12369368","funder_id":"https://openalex.org/F4320321781","funder_display_name":"Ministero della Salute"}],"funders":[{"id":"https://openalex.org/F4320321179","display_name":"Fondazione Telethon","ror":"https://ror.org/04xraxn18"},{"id":"https://openalex.org/F4320321781","display_name":"Ministero della Salute","ror":"https://ror.org/00789fa95"},{"id":"https://openalex.org/F4320321873","display_name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","ror":"https://ror.org/0166hxq48"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4403329902.pdf","grobid_xml":"https://content.openalex.org/works/W4403329902.grobid-xml"},"referenced_works_count":37,"referenced_works":["https://openalex.org/W2051978340","https://openalex.org/W2052448847","https://openalex.org/W2124110971","https://openalex.org/W2132123037","https://openalex.org/W2133257334","https://openalex.org/W2156190275","https://openalex.org/W2248980205","https://openalex.org/W2337209831","https://openalex.org/W2466523221","https://openalex.org/W2903772223","https://openalex.org/W2909194804","https://openalex.org/W2914421200","https://openalex.org/W2954930429","https://openalex.org/W2987977317","https://openalex.org/W3004908428","https://openalex.org/W3023572987","https://openalex.org/W3034349485","https://openalex.org/W3037601773","https://openalex.org/W3045700615","https://openalex.org/W3110666803","https://openalex.org/W3143342884","https://openalex.org/W3172336339","https://openalex.org/W3215603384","https://openalex.org/W4210695678","https://openalex.org/W4214905523","https://openalex.org/W4226065462","https://openalex.org/W4281715320","https://openalex.org/W4285796131","https://openalex.org/W4291709651","https://openalex.org/W4304589237","https://openalex.org/W4315706219","https://openalex.org/W4320719522","https://openalex.org/W4323808926","https://openalex.org/W4378781171","https://openalex.org/W4381325534","https://openalex.org/W4385226246","https://openalex.org/W4389340473"],"related_works":["https://openalex.org/W4410908509","https://openalex.org/W4210695678","https://openalex.org/W4323808926","https://openalex.org/W4386929317","https://openalex.org/W4239467303","https://openalex.org/W7117135201","https://openalex.org/W7172208338","https://openalex.org/W2583285781","https://openalex.org/W7214598829","https://openalex.org/W4320719522"],"abstract_inverted_index":{"Joubert":[0],"syndrome":[1],"(JS)":[2],"is":[3],"a":[4,49,116,136,147,158,166],"genetically":[5],"heterogeneous":[6],"neurodevelopmental":[7],"ciliopathy.":[8],"Despite":[9],"exome":[10],"sequencing":[11],"(ES),":[12],"several":[13],"patients":[14,38,175],"remain":[15],"undiagnosed.":[16],"This":[17],"study":[18],"aims":[19],"to":[20,178],"increase":[21,168],"the":[22,170,184],"diagnostic":[23,124,171],"yield":[24,172],"by":[25],"uncovering":[26],"cryptic":[27,97,108],"variants":[28,47,61,65,79,85,109,134,152,182],"through":[29,71,80,157],"targeted":[30],"ES":[31,41,55,163],"reanalysis.":[32],"We":[33,52,68,95,127],"first":[34],"focused":[35,159],"on":[36],"26":[37,103],"in":[39,48,89,100,110,119,140,183],"whom":[40],"only":[42],"disclosed":[43,155],"heterozygous":[44,180],"pathogenic":[45],"coding":[46,181],"JS":[50,93],"gene.":[51],"reanalyzed":[53],"raw":[54],"data":[56],"searching":[57],"for":[58],"copy":[59],"number":[60],"(CNVs)":[62],"and":[63,77,106,131,187],"intronic":[64,132],"affecting":[66],"splicing.":[67],"validated":[69],"CNVs":[70,130],"real-time":[72],"PCR":[73],"or":[74,82],"chromosomal":[75],"microarray,":[76],"splicing":[78,133],"RT-PCR":[81],"minigenes.":[83],"Cryptic":[84],"were":[86],"then":[87],"searched":[88],"additional":[90],"44":[91,113],"ES-negative":[92],"individuals.":[94],"identified":[96],"\"second":[98],"hits\"":[99],"14":[101],"of":[102,112,121,150,161,169],"children":[104],"(54%)":[105],"biallelic":[107],"3":[111],"(7%),":[114],"reaching":[115],"definite":[117],"diagnosis":[118],"17":[120],"70":[122],"(overall":[123],"gain":[125],"24%).":[126],"show":[128],"that":[129,146],"are":[135],"common":[137],"mutational":[138],"mechanism":[139],"JS;":[141],"more":[142],"importantly,":[143],"we":[144],"demonstrate":[145],"significant":[148],"proportion":[149],"such":[151],"can":[153],"be":[154],"simply":[156],"reanalysis":[160],"available":[162],"data,":[164],"with":[165],"significantly":[167],"especially":[173],"among":[174],"previously":[176],"found":[177],"carry":[179],"KIAA0586,":[185],"CC2D2A":[186],"CPLANE1":[188],"genes.":[189]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":6}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2024-10-12T00:00:00"}
