{"id":"https://openalex.org/W2616475788","doi":null,"title":"LADD syndrome with glaucoma is caused by a novel gene.","display_name":"LADD syndrome with glaucoma is caused by a novel gene.","publication_year":2017,"publication_date":"2017-01-01","ids":{"openalex":"https://openalex.org/W2616475788","mag":"2616475788","pmid":"https://pubmed.ncbi.nlm.nih.gov/28400699","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5373035"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:4235867","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5373035","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"volume":null,"type":"article","indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5373035","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021684679","display_name":"Allie Simpson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Allie Simpson","raw_affiliation_strings":["Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008477580","display_name":"Armin Avdic","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Armin Avdic","raw_affiliation_strings":["Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa City, IA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112189964","display_name":"Ben R. Roos","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ben R Roos","raw_affiliation_strings":["Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087777920","display_name":"Adam P. DeLuca","orcid":"https://orcid.org/0000-0001-7798-1538","observed_orcids":["https://orcid.org/0000-0001-7798-1538"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Adam DeLuca","raw_affiliation_strings":["Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Kathy Miller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathy Miller","raw_affiliation_strings":["Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035244013","display_name":"Michael J. Schnieders","orcid":"https://orcid.org/0000-0003-1260-4592","observed_orcids":["https://orcid.org/0000-0003-1260-4592"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael J Schnieders","raw_affiliation_strings":["Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA; Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA; Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa City, IA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029284998","display_name":"Todd E. Scheetz","orcid":"https://orcid.org/0000-0002-1965-5811","observed_orcids":["https://orcid.org/0000-0002-1965-5811"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Todd E Scheetz","raw_affiliation_strings":["Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006579982","display_name":"Wallace L.M. Alward","orcid":"https://orcid.org/0000-0001-6368-9018","observed_orcids":["https://orcid.org/0000-0001-6368-9018"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wallace L M Alward","raw_affiliation_strings":["Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5066474989","display_name":"John H. Fingert","orcid":"https://orcid.org/0000-0002-0377-0479","observed_orcids":["https://orcid.org/0000-0002-0377-0479"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John H Fingert","raw_affiliation_strings":["Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Carver College of Medicine, University of Iowa, Iowa City, IA; Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA","institution_ids":["https://openalex.org/I126307644"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I126307644"],"apc_list":null,"apc_paid":null,"fwci":0.7242,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.70418006,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"23","issue":null,"first_page":"179","last_page":"184"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments","score":0.48539999127388,"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/T12989","display_name":"Ocular Disorders and Treatments","score":0.48539999127388,"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":0.3352000117301941,"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/T10563","display_name":"Corneal surgery and disorders","score":0.06129999831318855,"subfield":{"id":"https://openalex.org/subfields/2741","display_name":"Radiology, Nuclear Medicine and Imaging"},"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/open-angle-glaucoma","display_name":"open-angle glaucoma","score":0.8519999980926514},{"id":"https://openalex.org/keywords/central-corneal-thickness","display_name":"central corneal thickness","score":0.8640000224113464},{"id":"https://openalex.org/keywords/p63","display_name":"p63","score":0.9679999947547913},{"id":"https://openalex.org/keywords/novel-genes","display_name":"novel genes","score":0.5460000038146973},{"id":"https://openalex.org/keywords/dna-binding-domain","display_name":"DNA-binding domain","score":0.7039999961853027},{"id":"https://openalex.org/keywords/mutation-pathogenicity","display_name":"mutation pathogenicity","score":0.7419999837875366},{"id":"https://openalex.org/keywords/candidate-gene-identification","display_name":"candidate gene identification","score":0.43799999356269836},{"id":"https://openalex.org/keywords/corneal-dystrophy","display_name":"corneal dystrophy","score":0.4950000047683716}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7630331516265869},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6544520854949951},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.586217999458313},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.578866720199585},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5325616598129272},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4996359348297119},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.49088817834854126}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005901","descriptor_name":"Glaucoma","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D005901","descriptor_name":"Glaucoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007766","descriptor_name":"Lacrimal Apparatus Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D007766","descriptor_name":"Lacrimal Apparatus Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008958","descriptor_name":"Models, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013576","descriptor_name":"Syndactyly","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D013576","descriptor_name":"Syndactyly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014071","descriptor_name":"Tooth Abnormalities","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D014071","descriptor_name":"Tooth Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D017124","descriptor_name":"Conserved Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D025521","descriptor_name":"Tumor Suppressor Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D025521","descriptor_name":"Tumor Suppressor Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D034381","descriptor_name":"Hearing Loss","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D034381","descriptor_name":"Hearing Loss","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"pmh:oai:europepmc.org:4235867","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5373035","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:5373035","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5373035","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Vis","raw_type":"Text"},{"id":"pmid:28400699","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28400699","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":"Molecular vision","raw_type":"Journal Article"},{"id":"mag:2616475788","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28400699","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:europepmc.org:4235867","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5373035","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G3343448652","display_name":"Short-Term Training for Students in the Health Professions","funder_award_id":"T35HL007485","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G5732525105","display_name":"Molecular Genetics of Norma Tension Glaucoma","funder_award_id":"R01EY023512","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W1543820096","https://openalex.org/W1964182386","https://openalex.org/W1969406326","https://openalex.org/W1976361214","https://openalex.org/W1978142628","https://openalex.org/W1978972549","https://openalex.org/W1986517503","https://openalex.org/W2005071155","https://openalex.org/W2006492330","https://openalex.org/W2012078505","https://openalex.org/W2042889183","https://openalex.org/W2049349724","https://openalex.org/W2059145105","https://openalex.org/W2061391711","https://openalex.org/W2075093176","https://openalex.org/W2079035766","https://openalex.org/W2094491257","https://openalex.org/W2099484724","https://openalex.org/W2101873043","https://openalex.org/W2103441770","https://openalex.org/W2114064519","https://openalex.org/W2117409490","https://openalex.org/W2128016314","https://openalex.org/W2145102559","https://openalex.org/W2152174849","https://openalex.org/W2153065499","https://openalex.org/W2164004777","https://openalex.org/W2168133698","https://openalex.org/W2256016639","https://openalex.org/W2474747771"],"related_works":["https://openalex.org/W2606538442","https://openalex.org/W2393308007","https://openalex.org/W4362586922","https://openalex.org/W2228627374","https://openalex.org/W2061391711","https://openalex.org/W1426223968","https://openalex.org/W2014652068","https://openalex.org/W2474148957","https://openalex.org/W2371422052","https://openalex.org/W3045090693"],"abstract_inverted_index":{"PURPOSE:":[0],"genes":[1,51],"were":[2,42,52],"found":[3],"to":[4,21],"cause":[5],"some":[6],"cases":[7],"of":[8,17,26,29,60,66,99,102,134,173],"LADD":[9,30,61,182],"syndrome":[10,31,183],"in":[11,76,107,154,170],"prior":[12],"genetic":[13,24],"studies.":[14],"The":[15,63],"goal":[16],"this":[18],"study":[19],"is":[20,126,146,151,179],"identify":[22],"the":[23,67,85,100,103,117,120,129,135,163,171],"basis":[25],"a":[27,167,180],"case":[28],"with":[32,138],"glaucoma":[33],"and":[34,89,92,141,185,191],"thin":[35],"central":[36],"corneal":[37,189],"thickness":[38,190],"(CCT).":[39],"METHODS:":[40],")":[41],"first":[43],"evaluated":[44],"for":[45,58,193],"mutations.":[46],"Fifty-eight":[47],"additional":[48],"prioritized":[49],"candidate":[50,105],"identified":[53,68],"by":[54,72,115],"searching":[55],"gene":[56,184],"annotations":[57],"features":[59],"syndrome.":[62],"potential":[64],"pathogenicity":[65],"mutations":[69],"was":[70,112],"assessed":[71],"determining":[73],"their":[74],"frequency":[75],"large":[77],"public":[78],"exome":[79],"databases;":[80],"through":[81,93],"sequence":[82,131],"analysis":[83,98,160],"using":[84],"Blosum62":[86],"matrix,":[87],"PolyPhen2,":[88,140],"SIFT":[90,142],"algorithms;":[91],"homology":[94],"analyses.":[95],"A":[96],"structural":[97],"effects":[101],"top":[104],"mutation":[106,118,125,137,165],"tumor":[108],"protein":[109],"63":[110],"(TP63)":[111],"also":[113,187],"conducted":[114],"superimposing":[116],"over":[119],"solved":[121],"crystal":[122,158],"structure.":[123],"RESULTS:":[124],"absent":[127],"from":[128],"gnomAD":[130],"database.":[132],"Analysis":[133],"Arg343Trp":[136,164],"Blosum62,":[139],"all":[143],"suggest":[144],"it":[145],"pathogenic.":[147],"This":[148],"arginine":[149],"residue":[150],"highly":[152],"conserved":[153],"orthologous":[155],"genes.":[156],"Finally,":[157],"structure":[159,172],"showed":[161],"that":[162],"causes":[166],"significant":[168],"alteration":[169],"TP63's":[174],"DNA":[175],"binding":[176],"domain.":[177],"CONCLUSIONS:":[178],"novel":[181],"may":[186],"influence":[188],"risk":[192],"open-angle":[194],"glaucoma.":[195]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2017-05-26T00:00:00"}