{"id":"https://openalex.org/W7134167828","doi":"https://doi.org/10.3390/biom16030399","title":"Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence","display_name":"Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence","publication_year":2026,"publication_date":"2026-03-08","ids":{"openalex":"https://openalex.org/W7134167828","doi":"https://doi.org/10.3390/biom16030399","pmid":"https://pubmed.ncbi.nlm.nih.gov/41897335"},"language":"en","primary_location":{"id":"doi:10.3390/biom16030399","doi":"https://doi.org/10.3390/biom16030399","is_oa":true,"landing_page_url":"https://doi.org/10.3390/biom16030399","pdf_url":"https://www.mdpi.com/2218-273X/16/3/399/pdf?version=1772949294","source":{"id":"https://openalex.org/S4210236520","display_name":"Biomolecules","issn_l":"2218-273X","issn":["2218-273X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biomolecules","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/2218-273X/16/3/399/pdf?version=1772949294","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5083672799","display_name":"Danijela Krgovi\u0107","orcid":"https://orcid.org/0000-0002-0428-793X","observed_orcids":["https://orcid.org/0000-0002-0428-793X"]},"institutions":[{"id":"https://openalex.org/I37696226","display_name":"University of Maribor","ror":"https://ror.org/01d5jce07","country_code":"SI","type":"education","lineage":["https://openalex.org/I37696226"]}],"countries":["SI"],"is_corresponding":true,"raw_author_name":"Danijela Krgovic","raw_affiliation_strings":["Department of Molecular Biology, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia","University Institute of Genetic Diagnostics, University Medical Centre Maribor, 2000 Maribor, Slovenia"],"raw_orcid":"https://orcid.org/0000-0002-0428-793X","affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia","institution_ids":["https://openalex.org/I37696226"]},{"raw_affiliation_string":"University Institute of Genetic Diagnostics, University Medical Centre Maribor, 2000 Maribor, Slovenia","institution_ids":["https://openalex.org/I37696226"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082228813","display_name":"Peter Gradi\u0161nik","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210130844","display_name":"University Clinical Centre Maribor","ror":"https://ror.org/02rjj7s91","country_code":"SI","type":"funder","lineage":["https://openalex.org/I4210130844"]}],"countries":["SI"],"is_corresponding":false,"raw_author_name":"Peter Gradisnik","raw_affiliation_strings":["Department of Pediatrics, University Medical Centre Maribor, 2000 Maribor, Slovenia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University Medical Centre Maribor, 2000 Maribor, Slovenia","institution_ids":["https://openalex.org/I4210130844"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003947082","display_name":"Andreja Osterc Kopriv\u0161ek","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210130844","display_name":"University Clinical Centre Maribor","ror":"https://ror.org/02rjj7s91","country_code":"SI","type":"funder","lineage":["https://openalex.org/I4210130844"]}],"countries":["SI"],"is_corresponding":false,"raw_author_name":"Andreja Osterc Koprivsek","raw_affiliation_strings":["Department of Pediatrics, University Medical Centre Maribor, 2000 Maribor, Slovenia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University Medical Centre Maribor, 2000 Maribor, Slovenia","institution_ids":["https://openalex.org/I4210130844"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107613155","display_name":"Ana Kogov\u0161ek","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I37696226","display_name":"University of Maribor","ror":"https://ror.org/01d5jce07","country_code":"SI","type":"education","lineage":["https://openalex.org/I37696226"]}],"countries":["SI"],"is_corresponding":false,"raw_author_name":"Ana Kogovsek","raw_affiliation_strings":["University Institute of Genetic Diagnostics, University Medical Centre Maribor, 2000 Maribor, Slovenia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Institute of Genetic Diagnostics, University Medical Centre Maribor, 2000 Maribor, Slovenia","institution_ids":["https://openalex.org/I37696226"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076711130","display_name":"Nadja Kokalj Voka\u010d","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I37696226","display_name":"University of Maribor","ror":"https://ror.org/01d5jce07","country_code":"SI","type":"education","lineage":["https://openalex.org/I37696226"]}],"countries":["SI"],"is_corresponding":false,"raw_author_name":"Nadja Kokalj Vokac","raw_affiliation_strings":["University Institute of Genetic Diagnostics, University Medical Centre Maribor, 2000 Maribor, Slovenia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Institute of Genetic Diagnostics, University Medical Centre Maribor, 2000 Maribor, Slovenia","institution_ids":["https://openalex.org/I37696226"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5009084660","display_name":"\u0160pela Stangler Herode\u017e","orcid":"https://orcid.org/0000-0002-5389-5122","observed_orcids":["https://orcid.org/0000-0002-5389-5122"]},"institutions":[{"id":"https://openalex.org/I37696226","display_name":"University of Maribor","ror":"https://ror.org/01d5jce07","country_code":"SI","type":"education","lineage":["https://openalex.org/I37696226"]}],"countries":["SI"],"is_corresponding":false,"raw_author_name":"Spela Stangler Herodez","raw_affiliation_strings":["Department of Molecular Biology, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia","University Institute of Genetic Diagnostics, University Medical Centre Maribor, 2000 Maribor, Slovenia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia","institution_ids":["https://openalex.org/I37696226"]},{"raw_affiliation_string":"University Institute of Genetic Diagnostics, University Medical Centre Maribor, 2000 Maribor, Slovenia","institution_ids":["https://openalex.org/I37696226"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5083672799"],"corresponding_institution_ids":["https://openalex.org/I37696226"],"apc_list":{"value":2700,"currency":"CHF","value_usd":3258},"apc_paid":{"value":2700,"currency":"CHF","value_usd":3258},"fwci":3.9713,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.89765497,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":96},"biblio":{"volume":"16","issue":"3","first_page":"399","last_page":"399"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9994999766349792,"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":0.9994999766349792,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.00039999998989515007,"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/T10106","display_name":"Autism Spectrum Disorder Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive 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/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":1.0},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.9049999713897705},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.6570000052452087},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.6610000133514404},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.8809999823570251},{"id":"https://openalex.org/keywords/incomplete-penetrance","display_name":"incomplete penetrance","score":0.9430000185966492},{"id":"https://openalex.org/keywords/heritable-mutations","display_name":"inherited mutations","score":0.8360000252723694},{"id":"https://openalex.org/keywords/sptbn1","display_name":"SPTBN1","score":0.9929999709129333},{"id":"https://openalex.org/keywords/chd4","display_name":"CHD4","score":1.0},{"id":"https://openalex.org/keywords/in-silico-prediction","display_name":"in silico prediction","score":0.6809999942779541}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7577999830245972},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.49059998989105225},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4803999960422516},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.47269999980926514},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4262000024318695},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.42559999227523804},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4250999987125397},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.41370001435279846},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.4018000066280365},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.3772999942302704},{"id":"https://openalex.org/C188198153","wikidata":"https://www.wikidata.org/wiki/Q1613840","display_name":"Limiting","level":2,"score":0.37299999594688416},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.37119999527931213},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3603000044822693},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.33970001339912415},{"id":"https://openalex.org/C63363279","wikidata":"https://www.wikidata.org/wiki/Q5133848","display_name":"Clinical significance","level":2,"score":0.3379000127315521},{"id":"https://openalex.org/C2994067223","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"Genomic sequencing","level":4,"score":0.31700000166893005},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2992999851703644},{"id":"https://openalex.org/C2993807623","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genetic data","level":3,"score":0.29750001430511475},{"id":"https://openalex.org/C22467394","wikidata":"https://www.wikidata.org/wiki/Q849359","display_name":"Multidisciplinary approach","level":2,"score":0.2971000075340271},{"id":"https://openalex.org/C2993153387","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic diagnosis","level":3,"score":0.2955999970436096},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.29030001163482666},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.275299996137619},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.2671999931335449},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.26089999079704285},{"id":"https://openalex.org/C82157600","wikidata":"https://www.wikidata.org/wiki/Q2671652","display_name":"Diagnostic test","level":2,"score":0.2606000006198883},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.25780001282691956},{"id":"https://openalex.org/C189708586","wikidata":"https://www.wikidata.org/wiki/Q1504425","display_name":"Systematic review","level":3,"score":0.2531999945640564},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.25209999084472656},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.25200000405311584}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000095028","descriptor_name":"Multiomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000095028","descriptor_name":"Multiomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000095028","descriptor_name":"Multiomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000095028","descriptor_name":"Multiomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000095028","descriptor_name":"Multiomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000095028","descriptor_name":"Multiomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"D002648","descriptor_name":"Child","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":"D002648","descriptor_name":"Child","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":"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":"D002675","descriptor_name":"Child, Preschool","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":"D002675","descriptor_name":"Child, Preschool","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":"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":"D005260","descriptor_name":"Female","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":"D005260","descriptor_name":"Female","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":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","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":"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":"D008297","descriptor_name":"Male","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":"D008297","descriptor_name":"Male","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":"D008297","descriptor_name":"Male","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":"D009154","descriptor_name":"Mutation","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":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035501","descriptor_name":"Uncertainty","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035501","descriptor_name":"Uncertainty","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035501","descriptor_name":"Uncertainty","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","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":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.3390/biom16030399","doi":"https://doi.org/10.3390/biom16030399","is_oa":true,"landing_page_url":"https://doi.org/10.3390/biom16030399","pdf_url":"https://www.mdpi.com/2218-273X/16/3/399/pdf?version=1772949294","source":{"id":"https://openalex.org/S4210236520","display_name":"Biomolecules","issn_l":"2218-273X","issn":["2218-273X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biomolecules","raw_type":"journal-article"},{"id":"pmid:41897335","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41897335","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":"Biomolecules","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13023965","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13023965/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13023965/pdf/biomolecules-16-00399.pdf","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","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Biomolecules","raw_type":"Text"},{"id":"pmh:oai:d.cobiss.net/repository/si:271225859","doi":null,"is_oa":true,"landing_page_url":"https://www.mdpi.com/2218-273X/16/3/399","pdf_url":null,"source":{"id":"https://openalex.org/S7407055177","display_name":"dCOBISS.SI Digital Repository","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"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":"COBISS-ID: 519952921","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:1222ec41d7e44bd8a8e17bf785b7c75b","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/1222ec41d7e44bd8a8e17bf785b7c75b","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Biomolecules, Vol 16, Iss 3, p 399 (2026)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3390/biom16030399","doi":"https://doi.org/10.3390/biom16030399","is_oa":true,"landing_page_url":"https://doi.org/10.3390/biom16030399","pdf_url":"https://www.mdpi.com/2218-273X/16/3/399/pdf?version=1772949294","source":{"id":"https://openalex.org/S4210236520","display_name":"Biomolecules","issn_l":"2218-273X","issn":["2218-273X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biomolecules","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9074000120162964,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G2864589709","display_name":"Comparative genomics and genomic biodiversity","funder_award_id":"P4-0220","funder_id":"https://openalex.org/F4320322554","funder_display_name":"Javna Agencija za Raziskovalno Dejavnost RS"},{"id":"https://openalex.org/G7061477128","display_name":null,"funder_award_id":"Z3-9294 (B)","funder_id":"https://openalex.org/F4320322554","funder_display_name":"Javna Agencija za Raziskovalno Dejavnost RS"}],"funders":[{"id":"https://openalex.org/F4320322554","display_name":"Javna Agencija za Raziskovalno Dejavnost RS","ror":"https://ror.org/059bp8k51"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7134167828.pdf","grobid_xml":"https://content.openalex.org/works/W7134167828.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":[],"abstract_inverted_index":{"Background:":[0],"Neurodevelopmental":[1],"disorders":[2],"(NDDs)":[3],"are":[4],"genetically":[5],"heterogeneous,":[6],"and":[7,47,62,81,105,134,139,153,187,205],"exome":[8],"sequencing":[9],"(ES)":[10],"is":[11],"now":[12],"a":[13,96],"first-line":[14],"diagnostic":[15,207],"tool.":[16],"However,":[17],"many":[18],"patients":[19,61,162],"receive":[20],"variants":[21,28,142,189],"of":[22,45,212],"uncertain":[23],"significance":[24],"(VUSs)":[25],"or":[26,175],"inherited":[27,188],"with":[29,195],"incomplete":[30,159],"penetrance,":[31],"limiting":[32],"clinical":[33],"interpretation.":[34,116],"Emerging":[35],"multi-omics":[36,107,197,213],"evidence":[37,108],"from":[38,109],"the":[39,43,93,110],"literature":[40,83,111],"can":[41],"support":[42,115],"interpretation":[44],"novel":[46],"rare":[48,125,216],"variants,":[49,147],"helping":[50],"to":[51,92,114,158],"refine":[52],"classification":[53],"in":[54,102,149,184,190,215],"selected":[55],"cases.":[56],"Methods:":[57],"We":[58],"assessed":[59],"20":[60,124],"their":[63],"parents":[64],"referred":[65],"for":[66,69],"genetic":[67],"testing":[68],"NDDs.":[70,191],"ES":[71],"was":[72],"performed,":[73],"followed":[74],"by":[75,95,171],"ACMG/ACGS-based":[76],"variant":[77,200],"classification,":[78],"segregation":[79],"analysis,":[80],"targeted":[82],"review.":[84],"Variants":[85],"were":[86,112,143,169],"included":[87],"when":[88],"deemed":[89],"plausible":[90],"contributors":[91],"phenotype":[94],"multidisciplinary":[97],"team.":[98],"Gene-level":[99],"constraint":[100],"metrics,":[101],"silico":[103],"predictions,":[104],"emerging":[106],"integrated":[113],"Results:":[117],"Across":[118],"18":[119],"NDD-associated":[120],"genes,":[121],"we":[122],"identified":[123],"variants:":[126],"Three":[127],"pathogenic":[128,132],"(P),":[129],"nine":[130],"likely":[131],"(LP),":[133],"eight":[135],"VUSs.":[136],"All":[137],"P":[138],"most":[140],"LP":[141],"de":[144],"novo.":[145],"Inherited":[146],"particularly":[148],"KMT5B,":[150],"TANC2,":[151],"SPTBN1,":[152],"CHD4,":[154],"highlighted":[155],"challenges":[156,183],"related":[157],"penetrance.":[160],"Two":[161],"had":[163],"dual":[164],"molecular":[165],"diagnoses.":[166],"Several":[167],"VUSs":[168,186],"supported":[170],"literature-derived":[172],"transcriptomic,":[173],"proteomic,":[174],"model-system":[176],"evidence.":[177],"Conclusions:":[178],"This":[179],"cohort":[180],"underscores":[181],"ongoing":[182],"interpreting":[185],"Integrating":[192],"genomic":[193],"findings":[194],"published":[196],"data":[198],"enhances":[199],"interpretation,":[201],"reveals":[202],"mechanistic":[203],"insights,":[204],"strengthens":[206],"confidence,":[208],"supporting":[209],"broader":[210],"adoption":[211],"approaches":[214],"NDD":[217],"evaluation.":[218]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-10-04T09:36:47.201465","created_date":"2026-03-09T00:00:00"}
