{"id":"https://openalex.org/W2016334332","doi":"https://doi.org/10.1167/iovs.11-7554","title":"Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes","display_name":"Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes","publication_year":2011,"publication_date":"2011-06-04","ids":{"openalex":"https://openalex.org/W2016334332","doi":"https://doi.org/10.1167/iovs.11-7554","mag":"2016334332","pmid":"https://pubmed.ncbi.nlm.nih.gov/21642631"},"language":"en","primary_location":{"id":"doi:10.1167/iovs.11-7554","doi":"https://doi.org/10.1167/iovs.11-7554","is_oa":true,"landing_page_url":"https://doi.org/10.1167/iovs.11-7554","pdf_url":"https://iovs.arvojournals.org/arvo/content_public/journal/iovs/933462/z7g00811005317.pdf","source":{"id":"https://openalex.org/S76304953","display_name":"Investigative Ophthalmology & Visual Science","issn_l":"0146-0404","issn":["0146-0404","1552-5783"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321950","host_organization_name":"Cadmus Press","host_organization_lineage":["https://openalex.org/P4310321950"],"host_organization_lineage_names":["Cadmus Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative Opthalmology & Visual Science","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://iovs.arvojournals.org/arvo/content_public/journal/iovs/933462/z7g00811005317.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100410520","display_name":"Jianjun Chen","orcid":"https://orcid.org/0000-0003-3749-2902","observed_orcids":["https://orcid.org/0000-0003-3749-2902"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210139686","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jianjun Chen","raw_affiliation_strings":["From the Ophthalmic Genetics and Visual Function Branch and","Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20852, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Ophthalmic Genetics and Visual Function Branch and","institution_ids":[]},{"raw_affiliation_string":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20852, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108348047","display_name":"Nizar Smaoui","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210139686","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nizar Smaoui","raw_affiliation_strings":["the DNA Diagnostic Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"the DNA Diagnostic Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland;","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006055939","display_name":"Monia Benhamed Hammer","orcid":"https://orcid.org/0000-0001-9693-2459","observed_orcids":["https://orcid.org/0000-0001-9693-2459"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210139686","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Monia Ben Hamed Hammer","raw_affiliation_strings":["the DNA Diagnostic Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"the DNA Diagnostic Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland;","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210139686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108640320","display_name":"Xiaodong Jiao","orcid":"https://orcid.org/0009-0008-1040-1605","observed_orcids":["https://orcid.org/0009-0008-1040-1605","https://orcid.org/0000-0002-0321-9070"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Xiaodong Jiao","raw_affiliation_strings":["From the Ophthalmic Genetics and Visual Function Branch and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Ophthalmic Genetics and Visual Function Branch and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056512930","display_name":"Sheikh Amer Riazuddin","orcid":"https://orcid.org/0000-0001-6012-0192","observed_orcids":["https://orcid.org/0000-0001-6012-0192"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I172780181","display_name":"University of the Punjab","ror":"https://ror.org/011maz450","country_code":"PK","type":"education","lineage":["https://openalex.org/I172780181"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]},{"id":"https://openalex.org/I4210141105","display_name":"Centre of Excellence in Molecular Biology","ror":"https://ror.org/03qfdvc46","country_code":"PK","type":"education","lineage":["https://openalex.org/I4210141105"]}],"countries":["PK","US"],"is_corresponding":false,"raw_author_name":"S. Amer Riazuddin","raw_affiliation_strings":["National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan; 4The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland;","National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan; 4The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland;","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I172780181","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan","institution_ids":["https://openalex.org/I172780181","https://openalex.org/I4210141105"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001913106","display_name":"Shyana Harper","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1287163989","display_name":"Massachusetts Eye and Ear Infirmary","ror":"https://ror.org/04g3dn724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1287163989"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shyana Harper","raw_affiliation_strings":["The Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts;","institution_ids":["https://openalex.org/I1287163989","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041321997","display_name":"Nicholas Katsanis","orcid":"https://orcid.org/0000-0002-2480-0171","observed_orcids":["https://orcid.org/0000-0002-2480-0171"]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nicholas Katsanis","raw_affiliation_strings":["Center for Human Disease Modeling and Department of Cell Biology, Duke University, Durham, North Carolina;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Disease Modeling and Department of Cell Biology, Duke University, Durham, North Carolina;","institution_ids":["https://openalex.org/I170897317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056512930","display_name":"Sheikh Amer Riazuddin","orcid":"https://orcid.org/0000-0001-6012-0192","observed_orcids":["https://orcid.org/0000-0001-6012-0192"]},"institutions":[{"id":"https://openalex.org/I172780181","display_name":"University of the Punjab","ror":"https://ror.org/011maz450","country_code":"PK","type":"education","lineage":["https://openalex.org/I172780181"]},{"id":"https://openalex.org/I205173300","display_name":"Allama Iqbal Medical College","ror":"https://ror.org/04vhsg885","country_code":"PK","type":"education","lineage":["https://openalex.org/I205173300"]},{"id":"https://openalex.org/I4210141105","display_name":"Centre of Excellence in Molecular Biology","ror":"https://ror.org/03qfdvc46","country_code":"PK","type":"education","lineage":["https://openalex.org/I4210141105"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Sheikh Riazuddin","raw_affiliation_strings":["National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan; 7Allama Iqbal Medical Research Center, Allama Iqbal Medical College, Lahore, Pakistan; and","Allama Iqbal Medical Research Center, Allama Iqbal Medical College, Lahore, Pakistan; and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan; 7Allama Iqbal Medical Research Center, Allama Iqbal Medical College, Lahore, Pakistan; and","institution_ids":["https://openalex.org/I172780181","https://openalex.org/I205173300","https://openalex.org/I4210141105"]},{"raw_affiliation_string":"Allama Iqbal Medical Research Center, Allama Iqbal Medical College, Lahore, Pakistan; and","institution_ids":["https://openalex.org/I205173300"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086090545","display_name":"Habiba Cha\u00e2bouni","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210118449","display_name":"H\u00f4pital Charles-Nicolle","ror":"https://ror.org/02f6ghw27","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210118449"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Habiba Chaabouni","raw_affiliation_strings":["Service des Maladies Cong\u00e9nitales et H\u00e9r\u00e9ditaires, H\u00f4pital Charles Nicolle, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service des Maladies Cong\u00e9nitales et H\u00e9r\u00e9ditaires, H\u00f4pital Charles Nicolle, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210118449"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015279657","display_name":"Eliot L. Berson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1287163989","display_name":"Massachusetts Eye and Ear Infirmary","ror":"https://ror.org/04g3dn724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1287163989"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eliot L. Berson","raw_affiliation_strings":["The Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts;","institution_ids":["https://openalex.org/I1287163989","https://openalex.org/I136199984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5091699331","display_name":"James Fielding Hejtmancik","orcid":"https://orcid.org/0000-0002-4788-0362","observed_orcids":["https://orcid.org/0000-0002-4788-0362","https://orcid.org/0009-0009-9144-7951"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. Fielding Hejtmancik","raw_affiliation_strings":["From the Ophthalmic Genetics and Visual Function Branch and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Ophthalmic Genetics and Visual Function Branch and","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":11,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":1850,"currency":"USD","value_usd":1850},"apc_paid":null,"fwci":3.298,"has_fulltext":true,"cited_by_count":57,"citation_normalized_percentile":{"value":0.91972921,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"52","issue":"8","first_page":"5317","last_page":"5317"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.9980000257492065,"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":0.9980000257492065,"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/T10691","display_name":"Retinal Development and Disorders","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/bardet-biedl-syndrome","display_name":"Bardet-Biedl syndrome","score":1.0},{"id":"https://openalex.org/keywords/bbs-genes","display_name":"BBS genes","score":0.847000002861023},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.9869999885559082},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.8299999833106995},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.6430000066757202},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8220000267028809},{"id":"https://openalex.org/keywords/rpgrip1l","display_name":"RPGRIP1L","score":0.8149999976158142},{"id":"https://openalex.org/keywords/cc2d2a","display_name":"CC2D2A","score":0.9610000252723694},{"id":"https://openalex.org/keywords/nphp3","display_name":"NPHP3","score":0.9890000224113464},{"id":"https://openalex.org/keywords/tmem67","display_name":"TMEM67","score":0.9990000128746033},{"id":"https://openalex.org/keywords/inpp5e","display_name":"INPP5E","score":0.9160000085830688},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.6299999952316284},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.9169999957084656},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.925000011920929}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.8664301633834839},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8324599266052246},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8070343136787415},{"id":"https://openalex.org/C2781232497","wikidata":"https://www.wikidata.org/wiki/Q1678281","display_name":"Bardet\u2013Biedl syndrome","level":4,"score":0.7984525561332703},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.6785343885421753},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6735463738441467},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.5916568636894226},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4974961578845978},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.49401170015335083},{"id":"https://openalex.org/C62257209","wikidata":"https://www.wikidata.org/wiki/Q5487490","display_name":"Splice site mutation","level":5,"score":0.4697086215019226},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4253201186656952},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4016653597354889},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.14778432250022888},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.13557127118110657},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.07084548473358154},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005006","descriptor_name":"Ethnicity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005006","descriptor_name":"Ethnicity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005006","descriptor_name":"Ethnicity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","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":"D006801","descriptor_name":"Humans","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020788","descriptor_name":"Bardet-Biedl Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D020788","descriptor_name":"Bardet-Biedl Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D020788","descriptor_name":"Bardet-Biedl Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D020788","descriptor_name":"Bardet-Biedl Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020788","descriptor_name":"Bardet-Biedl Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020788","descriptor_name":"Bardet-Biedl Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D044383","descriptor_name":"Black People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044383","descriptor_name":"Black People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044383","descriptor_name":"Black People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044465","descriptor_name":"White People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044465","descriptor_name":"White People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044465","descriptor_name":"White People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1167/iovs.11-7554","doi":"https://doi.org/10.1167/iovs.11-7554","is_oa":true,"landing_page_url":"https://doi.org/10.1167/iovs.11-7554","pdf_url":"https://iovs.arvojournals.org/arvo/content_public/journal/iovs/933462/z7g00811005317.pdf","source":{"id":"https://openalex.org/S76304953","display_name":"Investigative Ophthalmology & Visual Science","issn_l":"0146-0404","issn":["0146-0404","1552-5783"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321950","host_organization_name":"Cadmus Press","host_organization_lineage":["https://openalex.org/P4310321950"],"host_organization_lineage_names":["Cadmus Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative Opthalmology & Visual Science","raw_type":"journal-article"},{"id":"pmid:21642631","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21642631","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":"Investigative ophthalmology & visual science","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:2257575","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3176075","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"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":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3176075","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3176075","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Invest Ophthalmol Vis Sci","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1167/iovs.11-7554","doi":"https://doi.org/10.1167/iovs.11-7554","is_oa":true,"landing_page_url":"https://doi.org/10.1167/iovs.11-7554","pdf_url":"https://iovs.arvojournals.org/arvo/content_public/journal/iovs/933462/z7g00811005317.pdf","source":{"id":"https://openalex.org/S76304953","display_name":"Investigative Ophthalmology & Visual Science","issn_l":"0146-0404","issn":["0146-0404","1552-5783"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321950","host_organization_name":"Cadmus Press","host_organization_lineage":["https://openalex.org/P4310321950"],"host_organization_lineage_names":["Cadmus Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative Opthalmology & Visual Science","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8048999905586243,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G2987449274","display_name":null,"funder_award_id":"R01 DK 072301","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G4488564195","display_name":null,"funder_award_id":"R01HD042601","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320306340","display_name":"Foundation Fighting Blindness","ror":"https://ror.org/011728q79"},{"id":"https://openalex.org/F4320309699","display_name":"Massachusetts Eye and Ear","ror":"https://ror.org/04g3dn724"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2016334332.pdf","grobid_xml":"https://content.openalex.org/works/W2016334332.grobid-xml"},"referenced_works_count":42,"referenced_works":["https://openalex.org/W1603149591","https://openalex.org/W1965235603","https://openalex.org/W1966955874","https://openalex.org/W1976421227","https://openalex.org/W1980311612","https://openalex.org/W1983281087","https://openalex.org/W1992992943","https://openalex.org/W1994975332","https://openalex.org/W2018953310","https://openalex.org/W2019866708","https://openalex.org/W2022475193","https://openalex.org/W2031964961","https://openalex.org/W2039819049","https://openalex.org/W2044609550","https://openalex.org/W2053392992","https://openalex.org/W2058077945","https://openalex.org/W2059098302","https://openalex.org/W2061294630","https://openalex.org/W2061601662","https://openalex.org/W2062699991","https://openalex.org/W2062840905","https://openalex.org/W2066842912","https://openalex.org/W2076928023","https://openalex.org/W2098024636","https://openalex.org/W2100378298","https://openalex.org/W2110283302","https://openalex.org/W2110459060","https://openalex.org/W2112897062","https://openalex.org/W2114810168","https://openalex.org/W2117291460","https://openalex.org/W2124589223","https://openalex.org/W2125641223","https://openalex.org/W2137418427","https://openalex.org/W2138895125","https://openalex.org/W2151170645","https://openalex.org/W2158501174","https://openalex.org/W2159485495","https://openalex.org/W2166172682","https://openalex.org/W2170325108","https://openalex.org/W2177218236","https://openalex.org/W4285719527","https://openalex.org/W4300672362"],"related_works":["https://openalex.org/W2001105869","https://openalex.org/W2999050844","https://openalex.org/W2032876365","https://openalex.org/W2081157122","https://openalex.org/W2012172239","https://openalex.org/W3112847293","https://openalex.org/W2092849118","https://openalex.org/W2983791803","https://openalex.org/W2414538478","https://openalex.org/W1500710931"],"abstract_inverted_index":{"PURPOSE:":[0],"Bardet-Biedl":[1],"syndrome":[2],"(BBS)":[3],"is":[4],"genetically":[5],"heterogeneous":[6],"with":[7,52,229],"15":[8],"BBS":[9,31,192,227,237,245],"genes":[10,65,246],"currently":[11,243],"identified,":[12],"accounting":[13],"for":[14,81,171],"approximately":[15],"70%":[16],"of":[17,21,30,36,57,60,119,153,190,195,203,216,226,235],"cases.":[18],"The":[19,146,233],"aim":[20],"our":[22],"study":[23],"was":[24],"to":[25],"define":[26],"further":[27,248],"the":[28,61,120,151,188,200,213,217,223],"spectrum":[29,189],"mutations":[32,75,168,198,228,240],"in":[33,50,72,117,156,207,220,241],"a":[34],"cohort":[35],"44":[37],"European-derived":[38],"American,":[39],"8":[40,95],"Tunisian,":[41],"1":[42,105,138,160,164],"Arabic,":[43],"and":[44,89,107,140,163,209],"2":[45],"Pakistani":[46],"families":[47,49,122],"(55":[48],"total)":[51],"BBS.":[53],"METHODS:":[54],"A":[55],"total":[56],"142":[58],"exons":[59],"first":[62],"12":[63],"BBS-causing":[64],"were":[66,76,78,115,144,169],"screened":[67,80],"by":[68],"dideoxy":[69],"sequencing.":[70],"Cases":[71],"which":[73],"no":[74],"found":[77],"then":[79],"BBS13,":[82,174],"BBS14,":[83,175],"BBS15,":[84,176],"RPGRIP1L,":[85,177],"CC2D2A,":[86,178],"NPHP3,":[87,179],"TMEM67,":[88,180],"INPP5E.":[90,182],"RESULTS:":[91],"Forty-three":[92],"mutations,":[93,97,100,104,130,133,137],"including":[94,212],"frameshift":[96,129],"10":[98,141],"nonsense":[99,132],"4":[101,131,134],"splice":[102,135],"site":[103,136],"deletion,":[106,139],"20":[108],"potentially":[109],"or":[110,181],"probably":[111],"pathogenic":[112],"missense":[113,142],"variations,":[114],"identified":[116,244],"46":[118],"55":[121],"studied":[123],"(84%).":[124],"Of":[125],"these,":[126],"21":[127,196],"(2":[128],"variations)":[143],"novel.":[145],"molecular":[147],"genetic":[148,201,249],"findings":[149],"raised":[150],"possibility":[152],"triallelic":[154],"inheritance":[155],"7":[157],"Caucasian":[158],"families,":[159],"Arabian":[161],"family,":[162],"Tunisian":[165,210],"patient.":[166],"No":[167],"detected":[170],"BBS4,":[172],"BBS11,":[173],"CONCLUSIONS:":[183],"This":[184],"mutational":[185],"analysis":[186],"extends":[187],"known":[191],"mutations.":[193],"Identification":[194],"novel":[197],"highlights":[199],"heterogeneity":[202],"this":[204],"disorder.":[205],"Differences":[206],"European":[208],"patients,":[211],"high":[214],"frequency":[215],"M390R":[218],"mutation":[219],"Europeans,":[221],"emphasize":[222],"population":[224],"specificity":[225],"potential":[230],"diagnostic":[231],"implications.":[232],"existence":[234],"some":[236],"cases":[238],"without":[239],"any":[242],"suggests":[247],"heterogeneity.":[250]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":8},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":7}],"updated_date":"2026-10-08T09:06:37.294493","created_date":"2025-10-10T00:00:00"}