{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T17:54:12Z","timestamp":1775066052098,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T00:00:00Z","timestamp":1721952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Recognizing Mendelian causes is crucial in molecular diagnostics and counseling for patients with autism spectrum disorder (ASD). We explored facial dysmorphism and facial asymmetry in relation to genetic causes in ASD patients and studied the potential of objective facial phenotyping in discriminating between Mendelian and multifactorial ASD. In a cohort of 152 ASD patients, 3D facial images were used to calculate three metrics: a computational dysmorphism score, a computational asymmetry score, and an expert dysmorphism score. High scores for each of the three metrics were associated with Mendelian causes of ASD. The computational dysmorphism score showed a significant correlation with the average expert dysmorphism score. However, in some patients, different dysmorphism aspects were captured making the metrics potentially complementary. The computational dysmorphism and asymmetry scores both enhanced the individual expert dysmorphism scores in differentiating Mendelian from non\u2010Mendelian cases. Furthermore, the computational asymmetry score enhanced the average expert opinion in predicting a Mendelian cause. By design, our study does not allow to draw conclusions on the actual point\u2010of\u2010care use of 3D facial analysis. Nevertheless, 3D morphometric analysis is promising for developing clinical dysmorphology applications in diagnostics and training.<\/jats:p>","DOI":"10.1111\/cge.14595","type":"journal-article","created":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T05:51:02Z","timestamp":1721973062000},"page":"603-613","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Toward\n                    <scp>3D<\/scp>\n                    facial analysis for recognizing Mendelian causes of autism spectrum disorder"],"prefix":"10.1111","volume":"106","author":[{"given":"Yoeri","family":"Sleyp","sequence":"first","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harold S.","family":"Matthews","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"},{"name":"Medical Imaging Research Center UZ Leuven  Leuven Belgium"},{"name":"Facial Sciences Research Group Murdoch Children's Research Institute  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michiel","family":"Vanneste","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"},{"name":"Center for Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Vandenhove","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentine","family":"Delanote","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanne","family":"Hoskens","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"},{"name":"Medical Imaging Research Center UZ Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karlijne","family":"Indencleef","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"},{"name":"Medical Imaging Research Center UZ Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanne","family":"Teule","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maarten H. D.","family":"Larmuseau","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"},{"name":"Antwerp Cultural Heritage Sciences, ARCHES UAntwerpen  Antwerpen Belgium"},{"name":"Histories vzw  Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Steyaert","sequence":"additional","affiliation":[{"name":"Center for Developmental Psychiatry KU Leuven  Leuven Belgium"},{"name":"Leuven Autism Research (LAuRes) KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"},{"name":"Center for Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Claes","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"},{"name":"Medical Imaging Research Center UZ Leuven  Leuven Belgium"},{"name":"Facial Sciences Research Group Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Electrical Engineering, ESAT\/PSI KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilde","family":"Peeters","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"},{"name":"Center for Human Genetics University Hospitals Leuven  Leuven Belgium"},{"name":"Leuven Autism Research (LAuRes) KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/0009922811406261"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.12969"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2015.10078"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.526779"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.06.017"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38460"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.844845"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31746"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.03.021"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36249"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/aur.1824"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-2-15"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-010-1018-7"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0020246"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2008.18"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-012-1554-4"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/aur.2161"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22054"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-91465-z"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.2307\/2529310"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0207895"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0014-3820.2002.tb00117.x"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1080\/00273171.2012.658329"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12948"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-015-0454-0"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2899"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-021-09358-1"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0039-5"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101490"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/aur.2612"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.02020"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0404-y"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12896-017-0410-1"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-018-0279-0"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-021-01010-x"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14595","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T22:23:03Z","timestamp":1727821383000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14595"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,26]]},"references-count":35,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1111\/cge.14595"],"URL":"https:\/\/doi.org\/10.1111\/cge.14595","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14595\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14595\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14595\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14595\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14595\/v2\/response1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,26]]},"assertion":[{"value":"2024-04-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}