{"id":"https://openalex.org/W4405907103","doi":"https://doi.org/10.1109/access.2024.3524428","title":"A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder","display_name":"A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder","publication_year":2024,"publication_date":"2024-12-30","ids":{"openalex":"https://openalex.org/W4405907103","doi":"https://doi.org/10.1109/access.2024.3524428","pmid":"https://pubmed.ncbi.nlm.nih.gov/40808971"},"language":"en","primary_location":{"id":"doi:10.1109/access.2024.3524428","is_oa":true,"landing_page_url":"https://doi.org/10.1109/access.2024.3524428","pdf_url":null,"source":{"id":"https://openalex.org/S2485537415","display_name":"IEEE Access","issn_l":"2169-3536","issn":["2169-3536"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE Access","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1109/access.2024.3524428","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5035802376","display_name":"Soha Sadat Mahdi","orcid":"https://orcid.org/0000-0002-0549-7103"},"institutions":[{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"Soha S. Mahdi","raw_affiliation_strings":["ETRO, Vrije Universiteit Brussel, Ixelles, Belgium"],"affiliations":[{"raw_affiliation_string":"ETRO, Vrije Universiteit Brussel, Ixelles, Belgium","institution_ids":["https://openalex.org/I13469542"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101846117","display_name":"Eduarda Caldeira","orcid":"https://orcid.org/0009-0002-4891-0057"},"institutions":[{"id":"https://openalex.org/I2800231306","display_name":"Universitair Ziekenhuis Leuven","ror":"https://ror.org/0424bsv16","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2800231306"]},{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Eduarda Caldeira","raw_affiliation_strings":["ESAT/PSI&#x2014;UZ Leuven, MIRC, KU Leuven, Leuven, Belgium"],"affiliations":[{"raw_affiliation_string":"ESAT/PSI&#x2014;UZ Leuven, MIRC, KU Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096","https://openalex.org/I2800231306"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031945469","display_name":"Harold Matthews","orcid":"https://orcid.org/0000-0002-0524-0025"},"institutions":[{"id":"https://openalex.org/I2800231306","display_name":"Universitair Ziekenhuis Leuven","ror":"https://ror.org/0424bsv16","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2800231306"]},{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Harold Matthews","raw_affiliation_strings":["ESAT/PSI&#x2014;UZ Leuven, MIRC, KU Leuven, Leuven, Belgium"],"affiliations":[{"raw_affiliation_string":"ESAT/PSI&#x2014;UZ Leuven, MIRC, KU Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096","https://openalex.org/I2800231306"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033249557","display_name":"Michiel Vanneste","orcid":"https://orcid.org/0000-0003-0222-5740"},"institutions":[{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Michiel Vanneste","raw_affiliation_strings":["Department of Human Genetics, KU Leuven, Leuven, Belgium"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, KU Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077154341","display_name":"Nele Nauwelaers","orcid":"https://orcid.org/0000-0002-9763-6106"},"institutions":[{"id":"https://openalex.org/I2800231306","display_name":"Universitair Ziekenhuis Leuven","ror":"https://ror.org/0424bsv16","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2800231306"]},{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Nele Nauwelaers","raw_affiliation_strings":["ESAT/PSI&#x2014;UZ Leuven, MIRC, KU Leuven, Leuven, Belgium"],"affiliations":[{"raw_affiliation_string":"ESAT/PSI&#x2014;UZ Leuven, MIRC, KU Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096","https://openalex.org/I2800231306"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101532080","display_name":"Meng Yuan","orcid":"https://orcid.org/0000-0003-0922-8012"},"institutions":[{"id":"https://openalex.org/I2800231306","display_name":"Universitair Ziekenhuis Leuven","ror":"https://ror.org/0424bsv16","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2800231306"]},{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Meng Yuan","raw_affiliation_strings":["ESAT/PSI&#x2014;UZ Leuven, MIRC, KU Leuven, Leuven, Belgium"],"affiliations":[{"raw_affiliation_string":"ESAT/PSI&#x2014;UZ Leuven, MIRC, KU Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096","https://openalex.org/I2800231306"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048832709","display_name":"Giorgos Bouritsas","orcid":"https://orcid.org/0000-0002-8476-4918"},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Giorgos Bouritsas","raw_affiliation_strings":["Department of Informatics and Telecommunications, Archimedes AI Unit/Athena RC, University of Athens, Athens, Greece"],"affiliations":[{"raw_affiliation_string":"Department of Informatics and Telecommunications, Archimedes AI Unit/Athena RC, University of Athens, Athens, Greece","institution_ids":["https://openalex.org/I200777214"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089939981","display_name":"Gareth Baynam","orcid":null},"institutions":[{"id":"https://openalex.org/I205640436","display_name":"Curtin University","ror":"https://ror.org/02n415q13","country_code":"AU","type":"education","lineage":["https://openalex.org/I205640436"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Gareth S. Baynam","raw_affiliation_strings":["School of Earth and Planetary Sciences, Faculty of Science and Engineering, Curtin University, Perth, Australia"],"affiliations":[{"raw_affiliation_string":"School of Earth and Planetary Sciences, Faculty of Science and Engineering, Curtin University, Perth, Australia","institution_ids":["https://openalex.org/I205640436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065396629","display_name":"Peter Hammond","orcid":"https://orcid.org/0000-0003-3208-4459"},"institutions":[{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Peter Hammond","raw_affiliation_strings":["Department of Human Genetics, KU Leuven, Leuven, Belgium"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, KU Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079793510","display_name":"Richard A. Spritz","orcid":"https://orcid.org/0000-0002-8325-0026"},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz Medical Campus","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard Spritz","raw_affiliation_strings":["School of Medicine, Human Medical Genetics and Genomics Program, University of Colorado, Aurora, CO, USA"],"affiliations":[{"raw_affiliation_string":"School of Medicine, Human Medical Genetics and Genomics Program, University of Colorado, Aurora, CO, USA","institution_ids":["https://openalex.org/I51713134"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017487346","display_name":"Ophir D. Klein","orcid":"https://orcid.org/0000-0002-6254-7082"},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ophir D. Klein","raw_affiliation_strings":["Department of Orofacial Sciences, Institute for Human Genetics, University of California at San Francisco, San Francisco, CA, USA"],"affiliations":[{"raw_affiliation_string":"Department of Orofacial Sciences, Institute for Human Genetics, University of California at San Francisco, San Francisco, CA, USA","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013638126","display_name":"Michael M. Bronstein","orcid":"https://orcid.org/0000-0002-1262-7252"},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael Bronstein","raw_affiliation_strings":["Department of Computer Science, University of Oxford, Oxford, U.K"],"affiliations":[{"raw_affiliation_string":"Department of Computer Science, University of Oxford, Oxford, U.K","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017527161","display_name":"Benedikt Hallgr\u00edmsson","orcid":"https://orcid.org/0000-0002-7192-9103"},"institutions":[{"id":"https://openalex.org/I168635309","display_name":"University of Calgary","ror":"https://ror.org/03yjb2x39","country_code":"CA","type":"education","lineage":["https://openalex.org/I168635309"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Benedikt Hallgrimsson","raw_affiliation_strings":["Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada"],"affiliations":[{"raw_affiliation_string":"Department of Cell Biology and Anatomy, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada","institution_ids":["https://openalex.org/I168635309"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088298306","display_name":"Hilde Peeters","orcid":"https://orcid.org/0000-0002-7295-3375"},"institutions":[{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Hilde Peeters","raw_affiliation_strings":["Department of Human Genetics, KU Leuven, Leuven, Belgium"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, KU Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5054286392","display_name":"Peter Claes","orcid":"https://orcid.org/0000-0001-9489-9819"},"institutions":[{"id":"https://openalex.org/I2800231306","display_name":"Universitair Ziekenhuis Leuven","ror":"https://ror.org/0424bsv16","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2800231306"]},{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Peter Claes","raw_affiliation_strings":["ESAT/PSI&#x2014;UZ Leuven, MIRC, KU Leuven, Leuven, Belgium"],"affiliations":[{"raw_affiliation_string":"ESAT/PSI&#x2014;UZ Leuven, MIRC, KU Leuven, Leuven, Belgium","institution_ids":["https://openalex.org/I99464096","https://openalex.org/I2800231306"]}]}],"institutions":[],"countries_distinct_count":6,"institutions_distinct_count":15,"corresponding_author_ids":["https://openalex.org/A5035802376"],"corresponding_institution_ids":["https://openalex.org/I13469542"],"apc_list":{"value":1850,"currency":"USD","value_usd":1850},"apc_paid":{"value":1850,"currency":"USD","value_usd":1850},"fwci":0.3376,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.69515008,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"13","issue":null,"first_page":"7258","last_page":"7272"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10862","display_name":"AI in cancer detection","score":0.9969000220298767,"subfield":{"id":"https://openalex.org/subfields/1702","display_name":"Artificial Intelligence"},"field":{"id":"https://openalex.org/fields/17","display_name":"Computer Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},"topics":[{"id":"https://openalex.org/T10862","display_name":"AI in cancer detection","score":0.9969000220298767,"subfield":{"id":"https://openalex.org/subfields/1702","display_name":"Artificial Intelligence"},"field":{"id":"https://openalex.org/fields/17","display_name":"Computer Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},{"id":"https://openalex.org/T11448","display_name":"Face recognition and analysis","score":0.9884999990463257,"subfield":{"id":"https://openalex.org/subfields/1707","display_name":"Computer Vision and Pattern Recognition"},"field":{"id":"https://openalex.org/fields/17","display_name":"Computer Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},{"id":"https://openalex.org/T12874","display_name":"Digital Imaging for Blood Diseases","score":0.9868000149726868,"subfield":{"id":"https://openalex.org/subfields/1707","display_name":"Computer Vision and Pattern Recognition"},"field":{"id":"https://openalex.org/fields/17","display_name":"Computer Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/autoencoder","display_name":"Autoencoder","score":0.7023663520812988},{"id":"https://openalex.org/keywords/face","display_name":"Face (sociological concept)","score":0.5913794040679932},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.5169410109519958},{"id":"https://openalex.org/keywords/space","display_name":"Space (punctuation)","score":0.48293277621269226},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.47997522354125977},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.40142035484313965},{"id":"https://openalex.org/keywords/pattern-recognition","display_name":"Pattern recognition (psychology)","score":0.33861106634140015},{"id":"https://openalex.org/keywords/computer-vision","display_name":"Computer vision","score":0.3229013681411743},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.276174932718277},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.18501713871955872},{"id":"https://openalex.org/keywords/artificial-neural-network","display_name":"Artificial neural network","score":0.145452618598938},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.10789245367050171}],"concepts":[{"id":"https://openalex.org/C101738243","wikidata":"https://www.wikidata.org/wiki/Q786435","display_name":"Autoencoder","level":3,"score":0.7023663520812988},{"id":"https://openalex.org/C2779304628","wikidata":"https://www.wikidata.org/wiki/Q3503480","display_name":"Face (sociological concept)","level":2,"score":0.5913794040679932},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5169410109519958},{"id":"https://openalex.org/C2778572836","wikidata":"https://www.wikidata.org/wiki/Q380933","display_name":"Space (punctuation)","level":2,"score":0.48293277621269226},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.47997522354125977},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.40142035484313965},{"id":"https://openalex.org/C153180895","wikidata":"https://www.wikidata.org/wiki/Q7148389","display_name":"Pattern recognition (psychology)","level":2,"score":0.33861106634140015},{"id":"https://openalex.org/C31972630","wikidata":"https://www.wikidata.org/wiki/Q844240","display_name":"Computer vision","level":1,"score":0.3229013681411743},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.276174932718277},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.18501713871955872},{"id":"https://openalex.org/C50644808","wikidata":"https://www.wikidata.org/wiki/Q192776","display_name":"Artificial neural network","level":2,"score":0.145452618598938},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10789245367050171},{"id":"https://openalex.org/C36289849","wikidata":"https://www.wikidata.org/wiki/Q34749","display_name":"Social science","level":1,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.1109/access.2024.3524428","is_oa":true,"landing_page_url":"https://doi.org/10.1109/access.2024.3524428","pdf_url":null,"source":{"id":"https://openalex.org/S2485537415","display_name":"IEEE Access","issn_l":"2169-3536","issn":["2169-3536"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE Access","raw_type":"journal-article"},{"id":"pmid:40808971","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40808971","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,"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":"IEEE access : practical innovations, open solutions","raw_type":null},{"id":"pmh:oai:lirias2repo.kuleuven.be:20.500.12942/759973","is_oa":true,"landing_page_url":"https://lirias.kuleuven.be/handle/20.500.12942/759973","pdf_url":"https://lirias.kuleuven.be/retrieve/b26e7e5d-536d-43d7-9aa8-370d1e306d36","source":{"id":"https://openalex.org/S4306401954","display_name":"Lirias (KU Leuven)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I99464096","host_organization_name":"KU Leuven","host_organization_lineage":["https://openalex.org/I99464096"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Ieee Access, vol. 13, (1-15)","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:pubmedcentral.nih.gov:12346114","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12346114","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12346114/pdf/nihms-2050105.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"IEEE Access","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:0558fb2d9bf2466db4e2b6b70a15e88b","is_oa":true,"landing_page_url":"https://doaj.org/article/0558fb2d9bf2466db4e2b6b70a15e88b","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"IEEE Access, Vol 13, Pp 1-15 (2025)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1109/access.2024.3524428","is_oa":true,"landing_page_url":"https://doi.org/10.1109/access.2024.3524428","pdf_url":null,"source":{"id":"https://openalex.org/S2485537415","display_name":"IEEE Access","issn_l":"2169-3536","issn":["2169-3536"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE Access","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1521870118","display_name":null,"funder_award_id":"G078518N","funder_id":"https://openalex.org/F4320327336","funder_display_name":"Vlaamse regering"},{"id":"https://openalex.org/G3870727593","display_name":null,"funder_award_id":"C14/20/081","funder_id":"https://openalex.org/F4320322308","funder_display_name":"KU Leuven"},{"id":"https://openalex.org/G4757083739","display_name":null,"funder_award_id":"R01-DE027023","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6597434134","display_name":null,"funder_award_id":"BOF-C1","funder_id":"https://openalex.org/F4320322308","funder_display_name":"KU Leuven"},{"id":"https://openalex.org/G7895516993","display_name":null,"funder_award_id":"Belgium","funder_id":"https://openalex.org/F4320322308","funder_display_name":"KU Leuven"},{"id":"https://openalex.org/G8612174661","display_name":null,"funder_award_id":"G078518N","funder_id":"https://openalex.org/F4320321730","funder_display_name":"Fonds Wetenschappelijk Onderzoek"}],"funders":[{"id":"https://openalex.org/F4320321730","display_name":"Fonds Wetenschappelijk Onderzoek","ror":"https://ror.org/03qtxy027"},{"id":"https://openalex.org/F4320322308","display_name":"KU Leuven","ror":"https://ror.org/05f950310"},{"id":"https://openalex.org/F4320327336","display_name":"Vlaamse regering","ror":null},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W98989133","https://openalex.org/W2021999318","https://openalex.org/W2043548387","https://openalex.org/W2054086435","https://openalex.org/W2078737216","https://openalex.org/W2086452908","https://openalex.org/W2096733369","https://openalex.org/W2119943416","https://openalex.org/W2136941319","https://openalex.org/W2165888424","https://openalex.org/W2166408662","https://openalex.org/W2558748708","https://openalex.org/W2560719808","https://openalex.org/W2761974878","https://openalex.org/W2871213110","https://openalex.org/W2896936273","https://openalex.org/W2901529951","https://openalex.org/W2905441841","https://openalex.org/W2907562204","https://openalex.org/W2924804716","https://openalex.org/W2954382688","https://openalex.org/W2982580298","https://openalex.org/W2997233412","https://openalex.org/W3021482956","https://openalex.org/W3029892634","https://openalex.org/W3160584563","https://openalex.org/W3174279365","https://openalex.org/W3186963896","https://openalex.org/W4211105116","https://openalex.org/W4213434993","https://openalex.org/W4224935441","https://openalex.org/W4225587561","https://openalex.org/W4283397327","https://openalex.org/W4286005757","https://openalex.org/W6964692768"],"related_works":["https://openalex.org/W3013693939","https://openalex.org/W2566616303","https://openalex.org/W2159052453","https://openalex.org/W3131327266","https://openalex.org/W2734887215","https://openalex.org/W2803255133","https://openalex.org/W4297051394","https://openalex.org/W2752972570","https://openalex.org/W4386815338","https://openalex.org/W2145836866"],"abstract_inverted_index":{"Clinical":[0],"diagnosis":[1,19],"of":[2,25,59,68,104,133,139,152,165,196,200,210,234,237,252],"syndromes":[3,121],"benefits":[4],"strongly":[5],"from":[6],"objective":[7],"facial":[8,41,57,274],"phenotyping.":[9],"This":[10,191],"study":[11],"introduces":[12],"a":[13,26,40,60,74,116,170,178,246,256,261],"novel":[14,126,227],"approach":[15],"to":[16,31,55,99,125,226,272],"enhance":[17,50],"clinical":[18,34,45,51,247,270],"through":[20],"the":[21,33,66,101,131,168,194,207,211,215,232,238,249],"development":[22],"and":[23,92,128,177,185,224],"exploration":[24],"low-dimensional":[27],"metric":[28,217],"space":[29,37,67],"referred":[30],"as":[32,203,205],"face":[35],"phenotypic":[36],"(CFPS).":[38],"As":[39],"matching":[42],"tool":[43,263],"for":[44,193],"genetics,":[46],"such":[47],"CFPS":[48,117,201,258],"can":[49,107,118,265],"diagnosis.":[52],"It":[53],"helps":[54],"interpret":[56],"dysmorphisms":[58],"subject":[61],"by":[62,79,174],"placing":[63],"them":[64],"within":[65],"known":[69],"dysmorphisms.":[70],"In":[71],"this":[72],"paper,":[73],"triplet":[75],"loss-based":[76],"autoencoder":[77],"developed":[78],"geometric":[80],"deep":[81],"learning":[82,94,218],"(GDL)":[83],"is":[84],"trained":[85],"using":[86],"multi-task":[87],"learning,":[88],"which":[89,213],"combines":[90],"supervised":[91],"unsupervised":[93],"approaches.":[95],"Experiments":[96],"are":[97],"designed":[98],"illustrate":[100],"following":[102],"properties":[103,254],"CFPSs":[105],"that":[106,137,264],"aid":[108],"clinicians":[109],"in":[110,167,220,255,260],"narrowing":[111],"down":[112],"their":[113,242],"search":[114],"space:":[115],"1)":[119],"classify":[120],"accurately,":[122],"2)":[123],"generalize":[124],"syndromes,":[127],"3)":[129],"preserve":[130],"relatedness":[132],"genetic":[134],"diseases,":[135],"meaning":[136],"clusters":[138],"phenotypically":[140],"similar":[141],"disorders":[142],"reflect":[143],"functional":[144],"relationships":[145],"between":[146,163],"genes.":[147],"The":[148],"proposed":[149,239],"model":[150],"consists":[151],"three":[153],"main":[154],"components:":[155],"an":[156,197],"encoder":[157],"based":[158],"on":[159],"GDL":[160],"optimizing":[161],"distances":[162],"groups":[164],"individuals":[166],"CFPS,":[169,212],"decoder":[171],"enhancing":[172],"classification":[173,208,223],"reconstructing":[175],"faces,":[176],"singular":[179],"value":[180],"decomposition":[181],"layer":[182],"maintaining":[183],"orthogonality":[184],"optimal":[186,198],"variance":[187],"distribution":[188],"across":[189],"dimensions.":[190],"allows":[192],"selection":[195],"number":[199],"dimensions":[202],"well":[204],"improving":[206],"capacity":[209],"outperforms":[214],"linear":[216],"baseline":[219],"both":[221],"syndrome":[222],"generalization":[225],"syndromes.":[228],"We":[229],"further":[230],"proved":[231],"usefulness":[233],"each":[235],"component":[236],"framework,":[240],"highlighting":[241],"individual":[243],"impact.":[244],"From":[245],"perspective,":[248],"unique":[250],"combination":[251],"these":[253],"single":[257],"results":[259],"powerful":[262],"be":[266],"incorporated":[267],"into":[268],"current":[269],"practices":[271],"assess":[273],"dysmorphism.":[275]},"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2026-04-15T08:11:43.952461","created_date":"2025-10-10T00:00:00"}
