{"id":"https://openalex.org/W2492469005","doi":"https://doi.org/10.1111/cge.12836","title":"Molecular genetic analysis of 30 families with Joubert syndrome","display_name":"Molecular genetic analysis of 30 families with Joubert syndrome","publication_year":2016,"publication_date":"2016-07-19","ids":{"openalex":"https://openalex.org/W2492469005","doi":"https://doi.org/10.1111/cge.12836","mag":"2492469005","pmid":"https://pubmed.ncbi.nlm.nih.gov/27434533"},"language":"en","primary_location":{"id":"doi:10.1111/cge.12836","doi":"https://doi.org/10.1111/cge.12836","is_oa":false,"landing_page_url":"https://doi.org/10.1111/cge.12836","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5046891291","display_name":"Toshifumi Suzuki","orcid":"https://orcid.org/0000-0003-0515-0481","observed_orcids":["https://orcid.org/0000-0003-0515-0481"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]},{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"T. Suzuki","raw_affiliation_strings":["Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan","Department of Obstetrics and Gynecology Juntendo University Faculty of Medicine  Tokyo Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan","institution_ids":["https://openalex.org/I89630735"]},{"raw_affiliation_string":"Department of Obstetrics and Gynecology Juntendo University Faculty of Medicine  Tokyo Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001942683","display_name":"Noriko Miyake","orcid":"https://orcid.org/0000-0003-0987-310X","observed_orcids":["https://orcid.org/0000-0003-0987-310X","https://orcid.org/0000-0001-5322-2983"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"N. Miyake","raw_affiliation_strings":["Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020378125","display_name":"Yoshinori Tsurusaki","orcid":"https://orcid.org/0000-0002-7240-6355","observed_orcids":["https://orcid.org/0000-0002-7240-6355"]},"institutions":[{"id":"https://openalex.org/I4210115195","display_name":"Kanagawa Children's Medical Center","ror":"https://ror.org/022h0tq76","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210115195"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Tsurusaki","raw_affiliation_strings":["Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Japan","institution_ids":["https://openalex.org/I4210115195"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006575385","display_name":"Nobuhiko Okamoto","orcid":"https://orcid.org/0000-0001-5415-656X","observed_orcids":["https://orcid.org/0000-0001-5415-656X"]},"institutions":[{"id":"https://openalex.org/I4210095711","display_name":"Osaka Women's and Children's Hospital","ror":"https://ror.org/00nx7n658","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210095711","https://openalex.org/I4405282797"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"N. Okamoto","raw_affiliation_strings":["Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health  Osaka Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health  Osaka Japan","institution_ids":["https://openalex.org/I4210095711"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109539963","display_name":"A. Alkindy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210145880","display_name":"Sultan Qaboos University Hospital","ror":"https://ror.org/049xx5c95","country_code":"OM","type":"healthcare","lineage":["https://openalex.org/I4210145880"]}],"countries":["OM"],"is_corresponding":false,"raw_author_name":"A. Alkindy","raw_affiliation_strings":["Department of Genetics Sultan Qaboos University Hospital  Muscat Oman"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics Sultan Qaboos University Hospital  Muscat Oman","institution_ids":["https://openalex.org/I4210145880"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015667694","display_name":"A. Inaba","orcid":"https://orcid.org/0009-0001-9746-1983","observed_orcids":["https://orcid.org/0009-0001-9746-1983"]},"institutions":[{"id":"https://openalex.org/I2802180866","display_name":"Yokohama City University Medical Center","ror":"https://ror.org/03k95ve17","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I2802180866"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"A. Inaba","raw_affiliation_strings":["Yokohama City University Medical Center Children's Medical Center  Yokohama Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yokohama City University Medical Center Children's Medical Center  Yokohama Japan","institution_ids":["https://openalex.org/I2802180866"]}]},{"author_position":"middle","author":{"id":null,"display_name":"M. Sato","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210132193","display_name":"National Center For Child Health and Development","ror":"https://ror.org/03fvwxc59","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210132193"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M. Sato","raw_affiliation_strings":["Division of Nephrology and Rheumatology National Center for Child Health and Development  Tokyo Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology and Rheumatology National Center for Child Health and Development  Tokyo Japan","institution_ids":["https://openalex.org/I4210132193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072056487","display_name":"Shuichi Ito","orcid":"https://orcid.org/0000-0002-5242-8987","observed_orcids":["https://orcid.org/0000-0002-5242-8987"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"S. Ito","raw_affiliation_strings":["Department of Pediatrics, Graduate school of Medicine Yokohama City University  Yokohama Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Graduate school of Medicine Yokohama City University  Yokohama Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076021567","display_name":"Kazuhiro Muramatsu","orcid":"https://orcid.org/0000-0001-9256-5591","observed_orcids":["https://orcid.org/0000-0001-9256-5591"]},"institutions":[{"id":"https://openalex.org/I165735259","display_name":"Gunma University","ror":"https://ror.org/046fm7598","country_code":"JP","type":"education","lineage":["https://openalex.org/I165735259"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K. Muramatsu","raw_affiliation_strings":["Department of Pediatrics Gunma University Graduate School of Medicine  Gunma Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Gunma University Graduate School of Medicine  Gunma Japan","institution_ids":["https://openalex.org/I165735259"]}]},{"author_position":"middle","author":{"id":null,"display_name":"S. Kimura","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S. Kimura","raw_affiliation_strings":["Kumamoto City Child Development Support Center  Kumamoto Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kumamoto City Child Development Support Center  Kumamoto Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069285718","display_name":"Daisuke Ieda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I33858575","display_name":"Nagoya City University","ror":"https://ror.org/04wn7wc95","country_code":"JP","type":"education","lineage":["https://openalex.org/I33858575"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"D. Ieda","raw_affiliation_strings":["Department of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences  Nagoya Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences  Nagoya Japan","institution_ids":["https://openalex.org/I33858575"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019537702","display_name":"Shinji Saitoh","orcid":"https://orcid.org/0000-0001-6911-3351","observed_orcids":["https://orcid.org/0000-0001-6911-3351"]},"institutions":[{"id":"https://openalex.org/I33858575","display_name":"Nagoya City University","ror":"https://ror.org/04wn7wc95","country_code":"JP","type":"education","lineage":["https://openalex.org/I33858575"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"S. Saitoh","raw_affiliation_strings":["Department of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences  Nagoya Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences  Nagoya Japan","institution_ids":["https://openalex.org/I33858575"]}]},{"author_position":"middle","author":{"id":null,"display_name":"M. Hiyane","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Hiyane","raw_affiliation_strings":["Division of Child Neurology Okinawa Prefectural Southern Medical Center & Children's Medical Center Okinawa Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Child Neurology Okinawa Prefectural Southern Medical Center & Children's Medical Center Okinawa Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040758883","display_name":"Hiroshi Suzumura","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I78274823","display_name":"Dokkyo Medical University","ror":"https://ror.org/05k27ay38","country_code":"JP","type":"education","lineage":["https://openalex.org/I78274823"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H. Suzumura","raw_affiliation_strings":["Department of Pediatrics Dokkyo Medical University  Tochigi Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Dokkyo Medical University  Tochigi Japan","institution_ids":["https://openalex.org/I78274823"]}]},{"author_position":"middle","author":{"id":null,"display_name":"K. Yagyu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I205349734","display_name":"Hokkaido University","ror":"https://ror.org/02e16g702","country_code":"JP","type":"education","lineage":["https://openalex.org/I205349734"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K. Yagyu","raw_affiliation_strings":["Department of Child and Adolescent Psychiatry, Graduate School of Medicine Hokkaido University  Hokkaido Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Child and Adolescent Psychiatry, Graduate School of Medicine Hokkaido University  Hokkaido Japan","institution_ids":["https://openalex.org/I205349734"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101417476","display_name":"Hideaki Shiraishi","orcid":"https://orcid.org/0000-0003-4199-0728","observed_orcids":["https://orcid.org/0000-0003-4199-0728"]},"institutions":[{"id":"https://openalex.org/I205349734","display_name":"Hokkaido University","ror":"https://ror.org/02e16g702","country_code":"JP","type":"education","lineage":["https://openalex.org/I205349734"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H. Shiraishi","raw_affiliation_strings":["Department of Pediatrics Hokkaido University Graduate School of Medicine  Hokkaido Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Hokkaido University Graduate School of Medicine  Hokkaido Japan","institution_ids":["https://openalex.org/I205349734"]}]},{"author_position":"middle","author":{"id":null,"display_name":"M. Nakajima","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I205349734","display_name":"Hokkaido University","ror":"https://ror.org/02e16g702","country_code":"JP","type":"education","lineage":["https://openalex.org/I205349734"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M. Nakajima","raw_affiliation_strings":["Department of Pediatrics Hokkaido University Graduate School of Medicine  Hokkaido Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Hokkaido University Graduate School of Medicine  Hokkaido Japan","institution_ids":["https://openalex.org/I205349734"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002341881","display_name":"Noboru Fueki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210143871","display_name":"Nagano Children's Hospital","ror":"https://ror.org/048txfb61","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210143871","https://openalex.org/I4405284341"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"N. Fueki","raw_affiliation_strings":["Division of Rehabilitation Nagano Children's Hospital  Nagano Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Rehabilitation Nagano Children's Hospital  Nagano Japan","institution_ids":["https://openalex.org/I4210143871"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068399092","display_name":"Y. Habata","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405254035","display_name":"Hokkaido Medical Center for Child Health and Rehabilitation","ror":"https://ror.org/01bb9k904","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405254035"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Habata","raw_affiliation_strings":["Department of Pediatric Rehabilitation Hokkaido Medical Center for Child Health and Rehabilitation  Hokkaido Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rehabilitation Hokkaido Medical Center for Child Health and Rehabilitation  Hokkaido Japan","institution_ids":["https://openalex.org/I4405254035"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060019940","display_name":"Yuki Ueda","orcid":"https://orcid.org/0000-0003-4215-9370","observed_orcids":["https://orcid.org/0000-0003-4215-9370","https://orcid.org/0000-0002-6760-6766","https://orcid.org/0009-0008-2928-6934"]},"institutions":[{"id":"https://openalex.org/I4405257557","display_name":"SOUSEIKAI Hakata Clinic","ror":"https://ror.org/05da84g64","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405257557"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Ueda","raw_affiliation_strings":["Nire\u2010no\u2010kai Children's Clinic  Hokkaido Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nire\u2010no\u2010kai Children's Clinic  Hokkaido Japan","institution_ids":["https://openalex.org/I4405257557"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Y. Komatsu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I190930483","display_name":"Kyorin University","ror":"https://ror.org/0188yz413","country_code":"JP","type":"education","lineage":["https://openalex.org/I190930483"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Komatsu","raw_affiliation_strings":["Department of Pediatrics Kyorin University School of Medicine  Tokyo Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Kyorin University School of Medicine  Tokyo Japan","institution_ids":["https://openalex.org/I190930483"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025256234","display_name":"Kunimasa Yan","orcid":"https://orcid.org/0000-0001-7977-3863","observed_orcids":["https://orcid.org/0000-0001-7977-3863"]},"institutions":[{"id":"https://openalex.org/I190930483","display_name":"Kyorin University","ror":"https://ror.org/0188yz413","country_code":"JP","type":"education","lineage":["https://openalex.org/I190930483"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K. Yan","raw_affiliation_strings":["Department of Pediatrics Kyorin University School of Medicine  Tokyo Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Kyorin University School of Medicine  Tokyo Japan","institution_ids":["https://openalex.org/I190930483"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109120258","display_name":"Konomi Shimoda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K. Shimoda","raw_affiliation_strings":["Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Tokyo Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Tokyo Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Y. Shitara","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Shitara","raw_affiliation_strings":["Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Tokyo Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Tokyo Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084445389","display_name":"Seiji Mizuno","orcid":"https://orcid.org/0000-0002-1491-4124","observed_orcids":["https://orcid.org/0000-0002-1491-4124"]},"institutions":[{"id":"https://openalex.org/I4210160234","display_name":"Aichi Human Service Center","ror":"https://ror.org/00c4ncp37","country_code":"JP","type":"other","lineage":["https://openalex.org/I4210160234"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"S. Mizuno","raw_affiliation_strings":["Department of Pediatrics, Central Hospital Aichi Human Service Center  Aichi Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Central Hospital Aichi Human Service Center  Aichi Japan","institution_ids":["https://openalex.org/I4210160234"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021800331","display_name":"Kenji Ichinomiya","orcid":"https://orcid.org/0000-0001-8979-5388","observed_orcids":["https://orcid.org/0000-0001-8979-5388"]},"institutions":[{"id":"https://openalex.org/I4210145105","display_name":"Gunma Children's Medical Center","ror":"https://ror.org/0431x1p15","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210145105"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K. Ichinomiya","raw_affiliation_strings":["Department of Neonatology Gunma Children's Medical Center  Gunma Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neonatology Gunma Children's Medical Center  Gunma Japan","institution_ids":["https://openalex.org/I4210145105"]}]},{"author_position":"middle","author":{"id":null,"display_name":"K. Sameshima","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210145105","display_name":"Gunma Children's Medical Center","ror":"https://ror.org/0431x1p15","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210145105"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K. Sameshima","raw_affiliation_strings":["Division of Medical Genetics Gunma Children's Medical Center  Gunma Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics Gunma Children's Medical Center  Gunma Japan","institution_ids":["https://openalex.org/I4210145105"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068363103","display_name":"Yu Tsuyusaki","orcid":"https://orcid.org/0000-0003-2993-6526","observed_orcids":["https://orcid.org/0000-0003-2993-6526"]},"institutions":[{"id":"https://openalex.org/I4210115195","display_name":"Kanagawa Children's Medical Center","ror":"https://ror.org/022h0tq76","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210115195"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Tsuyusaki","raw_affiliation_strings":["Division of Neurology, Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Japan","institution_ids":["https://openalex.org/I4210115195"]}]},{"author_position":"middle","author":{"id":null,"display_name":"K. Kurosawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210115195","display_name":"Kanagawa Children's Medical Center","ror":"https://ror.org/022h0tq76","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210115195"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K. Kurosawa","raw_affiliation_strings":["Division of Medical Genetics, Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Japan","institution_ids":["https://openalex.org/I4210115195"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035241895","display_name":"Yasunari Sakai","orcid":"https://orcid.org/0000-0002-5747-8692","observed_orcids":["https://orcid.org/0000-0002-5747-8692"]},"institutions":[{"id":"https://openalex.org/I135598925","display_name":"Kyushu University","ror":"https://ror.org/00p4k0j84","country_code":"JP","type":"education","lineage":["https://openalex.org/I135598925"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Sakai","raw_affiliation_strings":["Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka Japan","institution_ids":["https://openalex.org/I135598925"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037835941","display_name":"Kazuhiro Haginoya","orcid":"https://orcid.org/0000-0003-0150-5716","observed_orcids":["https://orcid.org/0000-0003-0150-5716"]},"institutions":[{"id":"https://openalex.org/I4210088469","display_name":"Miyagi Children's Hospital","ror":"https://ror.org/007e71662","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210088469"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K. Haginoya","raw_affiliation_strings":["Department of Pediatric Neurology Miyagi Children's Hospital  Sendai Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology Miyagi Children's Hospital  Sendai Japan","institution_ids":["https://openalex.org/I4210088469"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052874191","display_name":"Yukio Kobayashi","orcid":"https://orcid.org/0000-0003-2378-7865","observed_orcids":["https://orcid.org/0000-0003-2378-7865"]},"institutions":[{"id":"https://openalex.org/I165735259","display_name":"Gunma University","ror":"https://ror.org/046fm7598","country_code":"JP","type":"education","lineage":["https://openalex.org/I165735259"]},{"id":"https://openalex.org/I36234482","display_name":"University of Bristol","ror":"https://ror.org/0524sp257","country_code":"GB","type":"education","lineage":["https://openalex.org/I36234482"]}],"countries":["GB","JP"],"is_corresponding":false,"raw_author_name":"Y. Kobayashi","raw_affiliation_strings":["Academic Renal Unit, School of Clinical Science University of Bristol  Bristol UK","Department of Pediatrics Gunma University Graduate School of Medicine  Gunma Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Renal Unit, School of Clinical Science University of Bristol  Bristol UK","institution_ids":["https://openalex.org/I36234482"]},{"raw_affiliation_string":"Department of Pediatrics Gunma University Graduate School of Medicine  Gunma Japan","institution_ids":["https://openalex.org/I165735259"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019450489","display_name":"C. Yoshizawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I165735259","display_name":"Gunma University","ror":"https://ror.org/046fm7598","country_code":"JP","type":"education","lineage":["https://openalex.org/I165735259"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"C. Yoshizawa","raw_affiliation_strings":["Department of Pediatrics Gunma University Graduate School of Medicine  Gunma Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Gunma University Graduate School of Medicine  Gunma Japan","institution_ids":["https://openalex.org/I165735259"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112912217","display_name":"M. Hisano","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M. Hisano","raw_affiliation_strings":["Department of Nephrology Chiba Children's Hospital  Chiba Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology Chiba Children's Hospital  Chiba Japan","institution_ids":["https://openalex.org/I4405253373"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080876994","display_name":"Mitsuko Nakashima","orcid":"https://orcid.org/0000-0001-7941-1774","observed_orcids":["https://orcid.org/0000-0001-7941-1774"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M. Nakashima","raw_affiliation_strings":["Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082917975","display_name":"Hirotomo Saitsu","orcid":"https://orcid.org/0000-0003-0723-0960","observed_orcids":["https://orcid.org/0000-0003-0723-0960"]},"institutions":[{"id":"https://openalex.org/I3123035732","display_name":"Hamamatsu University School of Medicine","ror":"https://ror.org/00ndx3g44","country_code":"JP","type":"education","lineage":["https://openalex.org/I3123035732"]},{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H. Saitsu","raw_affiliation_strings":["Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan","Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan","institution_ids":["https://openalex.org/I3123035732"]},{"raw_affiliation_string":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063827400","display_name":"Satoru Takeda","orcid":"https://orcid.org/0000-0001-9547-1435","observed_orcids":["https://orcid.org/0000-0001-9547-1435"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"S. Takeda","raw_affiliation_strings":["Department of Obstetrics and Gynecology Juntendo University Faculty of Medicine  Tokyo Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology Juntendo University Faculty of Medicine  Tokyo Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085467135","display_name":"Naomichi Matsumoto","orcid":"https://orcid.org/0000-0001-9846-6500","observed_orcids":["https://orcid.org/0000-0001-9846-6500"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"N. Matsumoto","raw_affiliation_strings":["Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan","institution_ids":["https://openalex.org/I89630735"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":23,"corresponding_author_ids":["https://openalex.org/A5085467135"],"corresponding_institution_ids":["https://openalex.org/I89630735"],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":null,"fwci":3.5653,"has_fulltext":false,"cited_by_count":60,"citation_normalized_percentile":{"value":0.93613166,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":91,"max":99},"biblio":{"volume":"90","issue":"6","first_page":"526","last_page":"535"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.9951000213623047,"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":0.9951000213623047,"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":0.0010999999940395355,"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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/joubert-syndrome","display_name":"Joubert syndrome","score":1.0},{"id":"https://openalex.org/keywords/cerebellar-vermis-hypoplasia","display_name":"cerebellar vermis hypoplasia","score":0.9089999794960022},{"id":"https://openalex.org/keywords/molar-tooth-sign","display_name":"molar tooth sign","score":0.9300000071525574},{"id":"https://openalex.org/keywords/tmem67","display_name":"TMEM67","score":0.9079999923706055},{"id":"https://openalex.org/keywords/cep290","display_name":"CEP290","score":0.9980000257492065},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8059999942779541},{"id":"https://openalex.org/keywords/bbs1","display_name":"BBS1","score":0.9319999814033508},{"id":"https://openalex.org/keywords/rpgrip1l","display_name":"RPGRIP1L","score":0.8849999904632568},{"id":"https://openalex.org/keywords/bardet-biedl-syndrome","display_name":"Bardet-Biedl syndrome","score":0.8640000224113464},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.7689999938011169},{"id":"https://openalex.org/keywords/japanese-family","display_name":"Japanese family","score":0.7319999933242798},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.6809999942779541}],"concepts":[{"id":"https://openalex.org/C2777386794","wikidata":"https://www.wikidata.org/wiki/Q1101694","display_name":"Joubert syndrome","level":3,"score":0.9588760137557983},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7728537321090698},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6543427109718323},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.6289557218551636},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.534372866153717},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5261378288269043},{"id":"https://openalex.org/C2777267824","wikidata":"https://www.wikidata.org/wiki/Q371520","display_name":"Polydactyly","level":2,"score":0.4760061204433441},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4416440725326538},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.37212008237838745},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.34938013553619385},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.19637173414230347},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000951","descriptor_name":"Antigens, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","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":"Q000503","qualifier_name":"physiopathology","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":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D005124","descriptor_name":"Eye Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005124","descriptor_name":"Eye Abnormalities","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D005124","descriptor_name":"Eye Abnormalities","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D007564","descriptor_name":"Japan","qualifier_ui":"Q000453","qualifier_name":"epidemiology","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":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008869","descriptor_name":"Microtubule-Associated 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":"D009363","descriptor_name":"Neoplasm Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009850","descriptor_name":"Oman","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","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":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D018740","descriptor_name":"Genetic Heterogeneity","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":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D048868","descriptor_name":"Adaptor Proteins, Signal Transducing","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/cge.12836","doi":"https://doi.org/10.1111/cge.12836","is_oa":false,"landing_page_url":"https://doi.org/10.1111/cge.12836","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},{"id":"pmid:27434533","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27434533","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":"Clinical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320309807","display_name":"Takeda Science Foundation","ror":"https://ror.org/02y123g31"},{"id":"https://openalex.org/F4320311405","display_name":"Japan Agency for Medical Research and Development","ror":"https://ror.org/004rtk039"},{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"},{"id":"https://openalex.org/F4320334789","display_name":"Japan Science and Technology Agency","ror":"https://ror.org/00097mb19"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":55,"referenced_works":["https://openalex.org/W1964633769","https://openalex.org/W1969974122","https://openalex.org/W1985225356","https://openalex.org/W1986170218","https://openalex.org/W2001393962","https://openalex.org/W2004044775","https://openalex.org/W2013938815","https://openalex.org/W2014221038","https://openalex.org/W2015234820","https://openalex.org/W2028651090","https://openalex.org/W2040855509","https://openalex.org/W2041964741","https://openalex.org/W2050281909","https://openalex.org/W2052486633","https://openalex.org/W2055455872","https://openalex.org/W2058761642","https://openalex.org/W2060126691","https://openalex.org/W2063293509","https://openalex.org/W2064966510","https://openalex.org/W2065492302","https://openalex.org/W2066041050","https://openalex.org/W2073654616","https://openalex.org/W2074085626","https://openalex.org/W2082289161","https://openalex.org/W2083982327","https://openalex.org/W2093964879","https://openalex.org/W2097108905","https://openalex.org/W2099008080","https://openalex.org/W2099247534","https://openalex.org/W2103638516","https://openalex.org/W2106598244","https://openalex.org/W2111777428","https://openalex.org/W2112101855","https://openalex.org/W2114034064","https://openalex.org/W2114339744","https://openalex.org/W2116138166","https://openalex.org/W2117687478","https://openalex.org/W2120185413","https://openalex.org/W2131428860","https://openalex.org/W2134727083","https://openalex.org/W2138779444","https://openalex.org/W2141692107","https://openalex.org/W2144875270","https://openalex.org/W2145237803","https://openalex.org/W2150641634","https://openalex.org/W2150928079","https://openalex.org/W2166156743","https://openalex.org/W2166217974","https://openalex.org/W2180541157","https://openalex.org/W2198245530","https://openalex.org/W2239132265","https://openalex.org/W2268895451","https://openalex.org/W2294049069","https://openalex.org/W4239467303","https://openalex.org/W6967518360"],"related_works":["https://openalex.org/W2106598244","https://openalex.org/W4239467303","https://openalex.org/W2980864514","https://openalex.org/W4386929317","https://openalex.org/W2736859406","https://openalex.org/W2332790150","https://openalex.org/W4406758848","https://openalex.org/W2583285781","https://openalex.org/W3040432435","https://openalex.org/W4388123203"],"abstract_inverted_index":{"Joubert":[0],"syndrome":[1],"(JS)":[2],"is":[3,29,34,41,137,165],"rare":[4],"recessive":[5],"disorders":[6],"characterized":[7],"by":[8,31],"the":[9,14,36,56,111,142,166,183],"combination":[10],"of":[11,13,59,84,117,188],"hypoplasia/aplasia":[12],"cerebellar":[15,21],"vermis,":[16],"thickened":[17],"and":[18,23,33,106,148,161],"elongated":[19],"superior":[20],"peduncles,":[22],"a":[24,138],"deep":[25],"interpeduncular":[26],"fossa":[27],"which":[28],"defined":[30],"neuroimaging":[32],"termed":[35],"'molar":[37],"tooth":[38],"sign'.":[39],"JS":[40,69],"genetically":[42],"highly":[43],"heterogeneous,":[44],"with":[45,72],"at":[46],"least":[47],"29":[48],"disease":[49,120],"genes":[50,95,159],"being":[51],"involved.":[52],"To":[53],"further":[54],"understand":[55],"genetic":[57],"causes":[58],"JS,":[60],"we":[61,77],"performed":[62],"whole-exome":[63],"sequencing":[64],"in":[65,81,96,132,141,156,169,182],"24":[66],"newly":[67],"recruited":[68],"families.":[70],"Together":[71],"six":[73],"previously":[74],"reported":[75,131],"families,":[76,102],"identified":[78,92],"causative":[79,167],"mutations":[80,155,174],"25":[82],"out":[83],"30":[85],"(24":[86],"+":[87,99],"6)":[88,100],"families":[89,151],"(83.3%).":[90],"We":[91],"eight":[93],"mutated":[94],"27":[97],"(21":[98],"Japanese":[101,143,147],"TMEM67":[103],"(7/27,":[104],"25.9%)":[105],"CEP290":[107,119],"(6/27,":[108],"22.2%)":[109],"were":[110,122],"most":[112],"commonly":[113],"mutated.":[114],"Interestingly,":[115],"9":[116],"12":[118],"alleles":[121],"c.6012-12T>A":[123,136],"(75.0%),":[124],"an":[125],"allele":[126,140],"that":[127],"has":[128],"not":[129],"been":[130],"non-Japanese":[133],"populations.":[134],"Therefore":[135],"common":[139],"population.":[144],"Importantly,":[145],"one":[146,149],"Omani":[150],"carried":[152],"compound":[153],"biallelic":[154],"two":[157],"distinct":[158],"(TMEM67/RPGRIP1L":[160],"TMEM138/BBS1,":[162],"respectively).":[163],"BBS1":[164],"gene":[168],"Bardet-Biedl":[170],"syndrome.":[171],"These":[172],"concomitant":[173],"led":[175],"to":[176],"severe":[177],"and/or":[178],"complex":[179],"clinical":[180],"features":[181],"patients,":[184],"suggesting":[185],"combined":[186],"effects":[187],"different":[189],"mutant":[190],"genes.":[191]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":13},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-08-23T00:00:00"}