{"id":"https://openalex.org/W4394477902","doi":"https://doi.org/10.6084/m9.figshare.13040889","title":"Additional file 1 of Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome","display_name":"Additional file 1 of Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome","publication_year":2020,"publication_date":"2020-01-01","ids":{"openalex":"https://openalex.org/W4394477902","doi":"https://doi.org/10.6084/m9.figshare.13040889"},"language":"en","primary_location":{"id":"pmh:oai:figshare.com:article/13040889","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_1_of_Identification_of_two_novel_pathogenic_variants_of_PIBF1_by_whole_exome_sequencing_in_a_2-year-old_boy_with_Joubert_syndrome/13040889","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"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":"","raw_type":"Dataset"},"volume":null,"type":"dataset","is_traditional":false,"indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://figshare.com/articles/dataset/Additional_file_1_of_Identification_of_two_novel_pathogenic_variants_of_PIBF1_by_whole_exome_sequencing_in_a_2-year-old_boy_with_Joubert_syndrome/13040889","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100628783","display_name":"Yue Shen","orcid":"https://orcid.org/0000-0002-3276-7295","observed_orcids":["https://orcid.org/0000-0002-3276-7295","https://orcid.org/0000-0003-2797-9178","https://orcid.org/0000-0002-9165-5111"]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Shen, Yue","raw_affiliation_strings":["National Health and Family Planning Commission"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health and Family Planning Commission","institution_ids":["https://openalex.org/I271893122"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100663370","display_name":"Hao Wang","orcid":"https://orcid.org/0000-0002-8557-7751","observed_orcids":["https://orcid.org/0000-0002-8557-7751"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wang, Hao","raw_affiliation_strings":["Capital Medical University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Capital Medical University","institution_ids":["https://openalex.org/I183519381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006571104","display_name":"Zhimin Liu","orcid":"https://orcid.org/0000-0002-9333-8101","observed_orcids":["https://orcid.org/0000-0002-9333-8101"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Liu, Zhimin","raw_affiliation_strings":["Capital Medical University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Capital Medical University","institution_ids":["https://openalex.org/I183519381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019316130","display_name":"Minna Luo","orcid":"https://orcid.org/0000-0003-1855-985X","observed_orcids":["https://orcid.org/0000-0003-1855-985X"]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Luo, Minna","raw_affiliation_strings":["National Health and Family Planning Commission"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health and Family Planning Commission","institution_ids":["https://openalex.org/I271893122"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101591239","display_name":"Siyu Ma","orcid":"https://orcid.org/0000-0002-7717-6069","observed_orcids":["https://orcid.org/0000-0002-7717-6069"]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ma, Siyu","raw_affiliation_strings":["National Health and Family Planning Commission"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health and Family Planning Commission","institution_ids":["https://openalex.org/I271893122"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Lu, Chao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Lu, Chao","raw_affiliation_strings":["National Health and Family Planning Commission"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health and Family Planning Commission","institution_ids":["https://openalex.org/I271893122"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102224823","display_name":"Zongfu Cao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Cao, Zongfu","raw_affiliation_strings":["National Health and Family Planning Commission"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health and Family Planning Commission","institution_ids":["https://openalex.org/I271893122"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072780614","display_name":"Yufei Yu","orcid":"https://orcid.org/0000-0003-2068-5361","observed_orcids":["https://orcid.org/0000-0003-2068-5361","https://orcid.org/0009-0000-2102-8510"]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yu, Yufei","raw_affiliation_strings":["National Health and Family Planning Commission"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health and Family Planning Commission","institution_ids":["https://openalex.org/I271893122"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045061359","display_name":"Ruikun Cai","orcid":"https://orcid.org/0000-0001-9810-7559","observed_orcids":["https://orcid.org/0000-0001-9810-7559"]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Cai, Ruikun","raw_affiliation_strings":["National Health and Family Planning Commission"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health and Family Planning Commission","institution_ids":["https://openalex.org/I271893122"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103161702","display_name":"Cuixia Chen","orcid":"https://orcid.org/0000-0002-1985-8184","observed_orcids":["https://orcid.org/0000-0002-1985-8184"]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chen, Cuixia","raw_affiliation_strings":["National Health and Family Planning Commission"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health and Family Planning Commission","institution_ids":["https://openalex.org/I271893122"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108732420","display_name":"Qian Li","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Li, Qian","raw_affiliation_strings":["National Health and Family Planning Commission"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health and Family Planning Commission","institution_ids":["https://openalex.org/I271893122"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000673221","display_name":"Huafang Gao","orcid":"https://orcid.org/0000-0001-7236-0193","observed_orcids":["https://orcid.org/0000-0001-7236-0193"]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Gao, Huafang","raw_affiliation_strings":["National Health and Family Planning Commission"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health and Family Planning Commission","institution_ids":["https://openalex.org/I271893122"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101948567","display_name":"Yun Peng","orcid":"https://orcid.org/0000-0002-1057-7087","observed_orcids":["https://orcid.org/0000-0002-1057-7087"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Peng, Yun","raw_affiliation_strings":["Capital Medical University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Capital Medical University","institution_ids":["https://openalex.org/I183519381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101522783","display_name":"Baoping Xu","orcid":"https://orcid.org/0000-0001-6257-2766","observed_orcids":["https://orcid.org/0000-0001-6257-2766"]},"institutions":[{"id":"https://openalex.org/I183519381","display_name":"Capital Medical University","ror":"https://ror.org/013xs5b60","country_code":"CN","type":"education","lineage":["https://openalex.org/I183519381"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xu, Baoping","raw_affiliation_strings":["Capital Medical University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Capital Medical University","institution_ids":["https://openalex.org/I183519381"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5018168958","display_name":"Xu Ma","orcid":"https://orcid.org/0000-0001-7674-3589","observed_orcids":["https://orcid.org/0000-0001-7674-3589"]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ma, Xu","raw_affiliation_strings":["National Health and Family Planning Commission"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health and Family Planning Commission","institution_ids":["https://openalex.org/I271893122"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.8432999849319458,"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":0.8432999849319458,"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":0.12549999356269836,"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":0.008500000461935997,"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":0.9940000176429749},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.8730000257492065},{"id":"https://openalex.org/keywords/novel-variants","display_name":"novel variants","score":0.7580000162124634},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.9070000052452087},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.3499999940395355},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.31299999356269836}],"concepts":[{"id":"https://openalex.org/C2777386794","wikidata":"https://www.wikidata.org/wiki/Q1101694","display_name":"Joubert syndrome","level":3,"score":0.7981458902359009},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7279998064041138},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.6967149376869202},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5484737157821655},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5196731686592102},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5166769027709961},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.4424821734428406},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.4155476987361908},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.21491596102714539},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10705870389938354},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:figshare.com:article/13040889","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_1_of_Identification_of_two_novel_pathogenic_variants_of_PIBF1_by_whole_exome_sequencing_in_a_2-year-old_boy_with_Joubert_syndrome/13040889","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"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":"","raw_type":"Dataset"},{"id":"doi:10.6084/m9.figshare.13040889","doi":"https://doi.org/10.6084/m9.figshare.13040889","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.13040889","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dataset"},{"id":"doi:10.6084/m9.figshare.13040889.v1","doi":"https://doi.org/10.6084/m9.figshare.13040889.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.13040889.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dataset"}],"best_oa_location":{"id":"pmh:oai:figshare.com:article/13040889","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_1_of_Identification_of_two_novel_pathogenic_variants_of_PIBF1_by_whole_exome_sequencing_in_a_2-year-old_boy_with_Joubert_syndrome/13040889","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"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":"","raw_type":"Dataset"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W1527981787","https://openalex.org/W1589408448","https://openalex.org/W1613728759","https://openalex.org/W1975974382","https://openalex.org/W1984068087","https://openalex.org/W2004044775","https://openalex.org/W2011126139","https://openalex.org/W2016559364","https://openalex.org/W2027977273","https://openalex.org/W2051978340","https://openalex.org/W2078917787","https://openalex.org/W2093375930","https://openalex.org/W2126945243","https://openalex.org/W2145237803","https://openalex.org/W2148543906","https://openalex.org/W2152207030","https://openalex.org/W2164323697","https://openalex.org/W2166217974","https://openalex.org/W2167309966","https://openalex.org/W2171691658","https://openalex.org/W2268895451","https://openalex.org/W2802693956","https://openalex.org/W2913606637"],"related_works":["https://openalex.org/W3089840951","https://openalex.org/W2802693956","https://openalex.org/W4405391024","https://openalex.org/W6977150996","https://openalex.org/W2913606637","https://openalex.org/W7161430176","https://openalex.org/W4315489645","https://openalex.org/W3188691726","https://openalex.org/W3008602007","https://openalex.org/W7128758705"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2024-04-08T00:00:00"}
