{"id":"https://openalex.org/W2900944285","doi":"https://doi.org/10.1007/s11033-018-4470-7","title":"Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience","display_name":"Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience","publication_year":2018,"publication_date":"2018-11-13","ids":{"openalex":"https://openalex.org/W2900944285","doi":"https://doi.org/10.1007/s11033-018-4470-7","mag":"2900944285","pmid":"https://pubmed.ncbi.nlm.nih.gov/30426380"},"language":"en","primary_location":{"id":"doi:10.1007/s11033-018-4470-7","doi":"https://doi.org/10.1007/s11033-018-4470-7","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s11033-018-4470-7","pdf_url":null,"source":{"id":"https://openalex.org/S197962172","display_name":"Molecular Biology Reports","issn_l":"0301-4851","issn":["0301-4851","1573-4978"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Biology Reports","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/A5010651802","display_name":"Muhsin Elmas","orcid":"https://orcid.org/0000-0002-5626-2160","observed_orcids":["https://orcid.org/0000-0002-5626-2160"]},"institutions":[{"id":"https://openalex.org/I52407163","display_name":"Afyon Kocatepe University","ror":"https://ror.org/03a1crh56","country_code":"TR","type":"education","lineage":["https://openalex.org/I52407163"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"M. Elmas","raw_affiliation_strings":["Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey. drmelmas@gmail.com","Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey"],"raw_orcid":"https://orcid.org/0000-0002-5626-2160","affiliations":[{"raw_affiliation_string":"Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey. drmelmas@gmail.com","institution_ids":["https://openalex.org/I52407163"]},{"raw_affiliation_string":"Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey","institution_ids":["https://openalex.org/I52407163"]}]},{"author_position":"middle","author":{"id":null,"display_name":"H. Y\u0131ld\u0131z","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I52407163","display_name":"Afyon Kocatepe University","ror":"https://ror.org/03a1crh56","country_code":"TR","type":"education","lineage":["https://openalex.org/I52407163"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"H. Y\u0131ld\u0131z","raw_affiliation_strings":["Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey","institution_ids":["https://openalex.org/I52407163"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055412668","display_name":"M\u00fcjgan \u00d6zdemir Erdo\u011fan","orcid":"https://orcid.org/0000-0002-3434-8545","observed_orcids":["https://orcid.org/0000-0002-3434-8545"]},"institutions":[{"id":"https://openalex.org/I52407163","display_name":"Afyon Kocatepe University","ror":"https://ror.org/03a1crh56","country_code":"TR","type":"education","lineage":["https://openalex.org/I52407163"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"M. Erdo\u011fan","raw_affiliation_strings":["Medical Biology and Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Biology and Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey","institution_ids":["https://openalex.org/I52407163"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016663295","display_name":"Ba\u015fak G\u00f6\u011f\u00fc\u015f","orcid":"https://orcid.org/0000-0002-5601-8555","observed_orcids":["https://orcid.org/0000-0002-5601-8555"]},"institutions":[{"id":"https://openalex.org/I52407163","display_name":"Afyon Kocatepe University","ror":"https://ror.org/03a1crh56","country_code":"TR","type":"education","lineage":["https://openalex.org/I52407163"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"B. Gogus","raw_affiliation_strings":["Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey"],"raw_orcid":"https://orcid.org/0000-0002-5601-8555","affiliations":[{"raw_affiliation_string":"Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey","institution_ids":["https://openalex.org/I52407163"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078068046","display_name":"K\u00fcbra Dilan Avc\u0131","orcid":"https://orcid.org/0000-0002-5589-0384","observed_orcids":["https://orcid.org/0000-0002-5589-0384"]},"institutions":[{"id":"https://openalex.org/I52407163","display_name":"Afyon Kocatepe University","ror":"https://ror.org/03a1crh56","country_code":"TR","type":"education","lineage":["https://openalex.org/I52407163"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"K. Avc\u0131","raw_affiliation_strings":["Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey","institution_ids":["https://openalex.org/I52407163"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103113060","display_name":"Mustafa Solak","orcid":"https://orcid.org/0000-0001-5348-9645","observed_orcids":["https://orcid.org/0000-0001-5348-9645"]},"institutions":[{"id":"https://openalex.org/I52407163","display_name":"Afyon Kocatepe University","ror":"https://ror.org/03a1crh56","country_code":"TR","type":"education","lineage":["https://openalex.org/I52407163"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"M. Solak","raw_affiliation_strings":["Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Department, Afyon Kocatepe University, Afyonkarahisar, Turkey","institution_ids":["https://openalex.org/I52407163"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5010651802"],"corresponding_institution_ids":["https://openalex.org/I52407163"],"apc_list":{"value":4290,"currency":"USD","value_usd":4290},"apc_paid":null,"fwci":0.9191,"has_fulltext":false,"cited_by_count":26,"citation_normalized_percentile":{"value":0.71803397,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"46","issue":"1","first_page":"287","last_page":"299"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"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/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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":0.0,"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/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.8270000219345093},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.9440000057220459},{"id":"https://openalex.org/keywords/diagnostic-yield","display_name":"diagnostic yield","score":0.6169999837875366},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9760000109672546},{"id":"https://openalex.org/keywords/heterozygous-variants","display_name":"heterozygous mutation","score":0.9110000133514404},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.953000009059906},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.7400000095367432}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7979736328125},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5872551202774048},{"id":"https://openalex.org/C2993153387","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic diagnosis","level":3,"score":0.5670557618141174},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5159009695053101},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5014889240264893},{"id":"https://openalex.org/C2910862020","wikidata":"https://www.wikidata.org/wiki/Q3454555","display_name":"Autosomal recessive inheritance","level":3,"score":0.49139705300331116},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4847719073295593},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.45711541175842285},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4215569496154785},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3752914071083069},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20974192023277283}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s11033-018-4470-7","doi":"https://doi.org/10.1007/s11033-018-4470-7","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s11033-018-4470-7","pdf_url":null,"source":{"id":"https://openalex.org/S197962172","display_name":"Molecular Biology Reports","issn_l":"0301-4851","issn":["0301-4851","1573-4978"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Biology Reports","raw_type":"journal-article"},{"id":"pmid:30426380","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30426380","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 biology reports","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W243377161","https://openalex.org/W1453603559","https://openalex.org/W1885358257","https://openalex.org/W1965691313","https://openalex.org/W1973154957","https://openalex.org/W1976300305","https://openalex.org/W1977209539","https://openalex.org/W1996019335","https://openalex.org/W2078781906","https://openalex.org/W2080094665","https://openalex.org/W2091037348","https://openalex.org/W2098390142","https://openalex.org/W2122805549","https://openalex.org/W2125580534","https://openalex.org/W2142287332","https://openalex.org/W2151061876","https://openalex.org/W2167990218","https://openalex.org/W2330997682","https://openalex.org/W2468165588","https://openalex.org/W2594059562","https://openalex.org/W2797173394","https://openalex.org/W2951249912","https://openalex.org/W2994544493","https://openalex.org/W3144964890","https://openalex.org/W4211050597","https://openalex.org/W4249291732"],"related_works":["https://openalex.org/W3138494684","https://openalex.org/W1980612046","https://openalex.org/W3163760894","https://openalex.org/W4406043185","https://openalex.org/W4392515179","https://openalex.org/W2702123870","https://openalex.org/W3135822971","https://openalex.org/W2437678162","https://openalex.org/W2403898088","https://openalex.org/W1594146628"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2018-11-29T00:00:00"}