{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T13:48:10Z","timestamp":1789480090220,"version":"build-2803163510"},"reference-count":75,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,2,6]],"date-time":"2024-02-06T00:00:00Z","timestamp":1707177600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","award":["ANR-10-IAHU-01"],"award-info":[{"award-number":["ANR-10-IAHU-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","award":["ANR-21-PMRB-0004"],"award-info":[{"award-number":["ANR-21-PMRB-0004"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Cranio-Maxillofacial Surgery"],"published-print":{"date-parts":[[2024,10]]},"DOI":"10.1016\/j.jcms.2024.02.010","type":"journal-article","created":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T11:42:19Z","timestamp":1707133339000},"page":"1172-1187","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["AI-based diagnosis and phenotype \u2013 Genotype correlations in syndromic craniosynostoses"],"prefix":"10.1016","volume":"52","author":[{"given":"Quentin","family":"Hennocq","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Paternoster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Collet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Bongibault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Bouygues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier-Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maxime","family":"Douillet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Dunaway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3240-681X","authenticated-orcid":false,"given":"Nu Owase","family":"Jeelani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2482-199X","authenticated-orcid":false,"given":"Lara S.","family":"van de Lande","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juling","family":"Ong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander J.","family":"Rickart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marl\u00e8ne","family":"Rio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Schievano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Arnaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Garcelon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman H.","family":"Khonsari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"August","key":"10.1016\/j.jcms.2024.02.010_bib1","article-title":"Three dimensional computed tomography texture analysis of pulmonary lesions: does radiomics allow differentiation between carcinoma, neuroendocrine tumor and organizing pneumonia?","volume":"165","author":"Adelsmayr","year":"2023","journal-title":"Eur. J. Radiol."},{"key":"10.1016\/j.jcms.2024.02.010_bib2","series-title":"Proceedings of the 22nd ACM International Conference on Multimedia","article-title":"Menpo: a comprehensive platform for parametric image alignment and visual deformable models","author":"Alabort-i-Medina","year":"2014"},{"key":"10.1016\/j.jcms.2024.02.010_bib3","doi-asserted-by":"crossref","first-page":"18","DOI":"10.2174\/1874120701307010018","article-title":"Osteoarthritis classification using self organizing map based on gabor kernel and contrast-limited adaptive histogram equalization","volume":"7","author":"Anifah","year":"2013","journal-title":"Open Biomed. Eng. J."},{"issue":"8","key":"10.1016\/j.jcms.2024.02.010_bib4","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1177\/1055665618760412","article-title":"Genetic analysis of syndromic and nonsyndromic patients with craniosynostosis identifies novel mutations in the TWIST1 and EFNB1 genes","volume":"55","author":"Apostolopoulou","year":"2018","journal-title":"Cleft Palate-Craniofacial J.: Official Publication of the American Cleft Palate-Craniofacial Association"},{"issue":"3","key":"10.1016\/j.jcms.2024.02.010_bib5","doi-asserted-by":"crossref","first-page":"348","DOI":"10.3390\/diagnostics13030348","article-title":"A novel medical image enhancement algorithm for breast cancer detection on mammography images using machine learning","volume":"13","author":"Avc\u0131","year":"2023","journal-title":"Diagnostics"},{"issue":"12","key":"10.1016\/j.jcms.2024.02.010_bib6","doi-asserted-by":"crossref","first-page":"2355","DOI":"10.1111\/2041-210X.13723","article-title":"Geomorph v4.0 and gmShiny: enhanced analytics and a new graphical interface for a comprehensive morphometric experience","volume":"12","author":"Baken","year":"2021","journal-title":"Methods Ecol. Evol."},{"issue":"1","key":"10.1016\/j.jcms.2024.02.010_bib7","doi-asserted-by":"crossref","first-page":"3","DOI":"10.2466\/pr0.1966.19.1.3","article-title":"The intraclass correlation coefficient as a measure of reliability","volume":"19","author":"Bartko","year":"1966","journal-title":"Psychol. Rep."},{"key":"10.1016\/j.jcms.2024.02.010_bib8","series-title":"StatPearls. Treasure Island (FL","article-title":"Craniosynostosis","author":"Betances","year":"2023"},{"issue":"4","key":"10.1016\/j.jcms.2024.02.010_bib9","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/j.jcms.2020.02.022","article-title":"Excessive ossification of the bandeau in Crouzon and Apert syndromes","volume":"48","author":"Bouaoud","year":"2020","journal-title":"J. Cranio-Maxillo-Fac. Surg.: Official Publication of the European Association for Cranio-Maxillo-Facial Surgery"},{"issue":"8","key":"10.1016\/j.jcms.2024.02.010_bib10","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1002\/ajmg.a.32208","article-title":"A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003","volume":"146A","author":"Boulet","year":"2008","journal-title":"Am. J. Med. Genet."},{"issue":"12","key":"10.1016\/j.jcms.2024.02.010_bib11","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1056\/NEJMsb025007","article-title":"The importance of race and ethnic background in biomedical research and clinical practice","volume":"348","author":"Burchard","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.jcms.2024.02.010_bib12","series-title":"Proceedings of the 22nd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining","article-title":"XGBoost: a scalable tree boosting system","author":"Chen","year":"2016"},{"issue":"3","key":"10.1016\/j.jcms.2024.02.010_bib13","doi-asserted-by":"crossref","first-page":"2927","DOI":"10.1007\/s00784-021-04275-y","article-title":"Craniofacial morphology and growth in Muenke syndrome, saethre-chotzen syndrome, and TCF12-related craniosynostosis","volume":"26","author":"Choi","year":"2022","journal-title":"Clin. Oral Invest."},{"issue":"2","key":"10.1016\/j.jcms.2024.02.010_bib14","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1148\/radiol.2018171820","article-title":"Current applications and future impact of machine learning in radiology","volume":"288","author":"Choy","year":"2018","journal-title":"Radiology"},{"issue":"4","key":"10.1016\/j.jcms.2024.02.010_bib15","article-title":"FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model","volume":"219","author":"Cornille","year":"2022","journal-title":"J. Exp. Med."},{"issue":"11","key":"10.1016\/j.jcms.2024.02.010_bib16","doi-asserted-by":"crossref","first-page":"2914","DOI":"10.1093\/hmg\/ddu004","article-title":"FGFR3 mutation causes abnormal membranous ossification in achondroplasia","volume":"23","author":"Di Rocco","year":"2014","journal-title":"Hum. Mol. Genet."},{"issue":"24","key":"10.1016\/j.jcms.2024.02.010_bib17","doi-asserted-by":"crossref","first-page":"3204","DOI":"10.1002\/ajmg.a.32078","article-title":"Muenke syndrome (FGFR3-Related craniosynostosis): expansion of the phenotype and review of the literature","volume":"143A","author":"Doherty","year":"2007","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.jcms.2024.02.010_bib18","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1186\/s12881-014-0095-4","article-title":"Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome","volume":"15","author":"Fenwick","year":"2014","journal-title":"BMC Med. Genet."},{"issue":"6","key":"10.1016\/j.jcms.2024.02.010_bib19","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1002\/ajmg.a.37640","article-title":"Apert and Crouzon syndromes-cognitive development, brain abnormalities, and molecular aspects","volume":"170","author":"Fernandes","year":"2016","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.jcms.2024.02.010_bib20","series-title":"GeneReviews\u00ae","article-title":"Saethre-chotzen syndrome","author":"Gallagher","year":"1993"},{"issue":"April","key":"10.1016\/j.jcms.2024.02.010_bib21","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.jbi.2018.02.019","article-title":"A clinician friendly data warehouse oriented toward narrative reports: Dr. Warehouse","volume":"80","author":"Garcelon","year":"2018","journal-title":"J. Biomed. Inf."},{"issue":"5","key":"10.1016\/j.jcms.2024.02.010_bib22","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.pediatrneurol.2015.07.006","article-title":"Craniosynostosis","volume":"53","author":"Governale","year":"2015","journal-title":"Pediatr. Neurol."},{"issue":"1","key":"10.1016\/j.jcms.2024.02.010_bib23","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/s41591-018-0279-0","article-title":"Identifying facial phenotypes of genetic disorders using deep learning","volume":"25","author":"Gurovich","year":"2019","journal-title":"Nat. Med."},{"issue":"6","key":"10.1016\/j.jcms.2024.02.010_bib24","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1109\/TSMC.1973.4309314","article-title":"Textural features for image classification","volume":"3","author":"Haralick","year":"1973","journal-title":"IEEE Transactions on Systems, Man, and Cybernetics SMC"},{"issue":"7","key":"10.1016\/j.jcms.2024.02.010_bib25","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1097\/01.PRS.0000165278.72168.51","article-title":"Clinical and genetic analysis of patients with saethre-chotzen syndrome","volume":"115","author":"Heer","year":"2005","journal-title":"Plast. Reconstr. Surg."},{"key":"10.1016\/j.jcms.2024.02.010_bib26","doi-asserted-by":"crossref","unstructured":"Hennocq, Quentin, Thomas Bongibault, Matthieu Bizi\u00e8re, Ombline Delassus, Maxime Douillet, Val\u00e9rie Cormier-Daire, Jeanne Amiel, et al. n.d. \u201cAn Automatic Facial Landmarking for Children with Rare Diseases.\u201d Am. J. Med. Genet. n\/a (n\/a). Accessed January 30, 2023. https:\/\/doi.org\/10.1002\/ajmg.a.63126.","DOI":"10.2139\/ssrn.4149714"},{"issue":"1","key":"10.1016\/j.jcms.2024.02.010_bib27","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/ng0197-36","article-title":"Mutations in TWIST, a basic helix-loop-helix transcription factor, in saethre-chotzen syndrome","volume":"15","author":"Howard","year":"1997","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.jcms.2024.02.010_bib28","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.aej.2020.06.054","article-title":"AN OTSU image segmentation based on fruitfly optimization algorithm","volume":"60","author":"Huang","year":"2021","journal-title":"Alex. Eng. J."},{"issue":"6","key":"10.1016\/j.jcms.2024.02.010_bib29","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.jaapos.2006.07.012","article-title":"Ocular abnormalities in Apert syndrome: genotype\/phenotype correlations with fibroblast growth factor receptor type 2 mutations","volume":"10","author":"Jadico","year":"2006","journal-title":"Journal of AAPOS: The Official Publication of the American Association for Pediatric Ophthalmology and Strabismus"},{"issue":"6","key":"10.1016\/j.jcms.2024.02.010_bib30","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.jaapos.2006.07.012","article-title":"Ocular abnormalities in Apert syndrome: genotype\/phenotype correlations with fibroblast growth factor receptor type 2 mutations","volume":"10","author":"Jadico","year":"2006","journal-title":"Journal of AAPOS: The Official Publication of the American Association for Pediatric Ophthalmology and Strabismus"},{"issue":"4","key":"10.1016\/j.jcms.2024.02.010_bib31","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1038\/s41433-021-01563-5","article-title":"Evaluation of a computer-based facial dysmorphology analysis algorithm (Face2Gene) using standardized textbook photos","volume":"36","author":"Javitt","year":"2022","journal-title":"Eye"},{"issue":"3","key":"10.1016\/j.jcms.2024.02.010_bib32","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.ejpn.2012.09.009","article-title":"Genetic causes of syndromic craniosynostoses","volume":"17","author":"Jezela-Stanek","year":"2013","journal-title":"Eur. J. Paediatr. Neurol.: EJPN: Official Journal of the European Paediatric Neurology Society"},{"key":"10.1016\/j.jcms.2024.02.010_bib33","series-title":"StatPearls. Treasure Island (FL","article-title":"Pfeiffer syndrome","author":"M Das","year":"2023"},{"issue":"2","key":"10.1016\/j.jcms.2024.02.010_bib34","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1086\/338758","article-title":"Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis","volume":"70","author":"Kan","year":"2002","journal-title":"Am. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.jcms.2024.02.010_bib35","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1016\/j.jcms.2016.08.015","article-title":"Fronto-facial advancement and bipartition in crouzon-pfeiffer and Apert syndromes: impact of fronto-facial surgery upon orbital and airway parameters in FGFR2 syndromes","volume":"44","author":"Khonsari","year":"2016","journal-title":"J. Cranio-Maxillo-Fac. Surg.: Official Publication of the European Association for Cranio-Maxillo-Facial Surgery"},{"issue":"5","key":"10.1016\/j.jcms.2024.02.010_bib36","doi-asserted-by":"crossref","DOI":"10.1097\/PRS.0000000000006162","article-title":"Defining critical ages for orbital shape changes after frontofacial advancement in Crouzon syndrome","volume":"144","author":"Khonsari","year":"2019","journal-title":"Plast. Reconstr. Surg."},{"issue":"January","key":"10.1016\/j.jcms.2024.02.010_bib37","article-title":"Sputum smears quality inspection using an ensemble feature extraction approach","volume":"10","author":"Kiflie","year":"2023","journal-title":"Front. Public Health"},{"issue":"3","key":"10.1016\/j.jcms.2024.02.010_bib38","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.spen.2007.08.008","article-title":"Genetics of craniosynostosis","volume":"14","author":"Kimonis","year":"2007","journal-title":"Semin. Pediatr. Neurol."},{"key":"10.1016\/j.jcms.2024.02.010_bib39","series-title":"Adam: A Method for Stochastic Optimization","author":"Kingma","year":"2017"},{"key":"10.1016\/j.jcms.2024.02.010_bib40","author":"Koonce"},{"key":"10.1016\/j.jcms.2024.02.010_bib41","series-title":"GeneReviews\u00ae","article-title":"Muenke syndrome","author":"Kruszka","year":"1993"},{"issue":"3","key":"10.1016\/j.jcms.2024.02.010_bib42","doi-asserted-by":"crossref","first-page":"443","DOI":"10.3171\/jns.1999.90.3.0443","article-title":"Clinical variability in patients with apert's syndrome","volume":"90","author":"Lajeunie","year":"1999","journal-title":"J. Neurosurg."},{"issue":"4 Suppl. l","key":"10.1016\/j.jcms.2024.02.010_bib43","first-page":"353","article-title":"Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families","volume":"103","author":"Lajeunie","year":"2005","journal-title":"J. Neurosurg."},{"key":"10.1016\/j.jcms.2024.02.010_bib44","unstructured":"\u201cLandmarker.Io \u00b7 The Menpo Project.\u201d n.d. Accessed March 20, 2022. https:\/\/www.menpo.org\/landmarkerio\/."},{"issue":"3","key":"10.1016\/j.jcms.2024.02.010_bib45","doi-asserted-by":"crossref","DOI":"10.3390\/ijms21031042","article-title":"Evaluating Face2Gene as a tool to identify cornelia de Lange syndrome by facial phenotypes","volume":"21","author":"Latorre-Pellicer","year":"2020","journal-title":"Int. J. Mol. Sci."},{"issue":"2","key":"10.1016\/j.jcms.2024.02.010_bib46","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0212110","article-title":"Gray-level invariant Haralick texture features","volume":"14","author":"L\u00f6fstedt","year":"2019","journal-title":"PLoS One"},{"issue":"2","key":"10.1016\/j.jcms.2024.02.010_bib47","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1001\/jamasurg.2019.4917","article-title":"Artificial intelligence and surgical decision-making","volume":"155","author":"Loftus","year":"2020","journal-title":"JAMA Surgery"},{"key":"10.1016\/j.jcms.2024.02.010_bib48","volume":"vol. 81","author":"Lucas","year":"1981"},{"issue":"1","key":"10.1016\/j.jcms.2024.02.010_bib49","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1097\/SCS.0000000000003368","article-title":"Identical twins discordant for metopic craniosynostosis: evidence of epigenetic influences","volume":"28","author":"Magge","year":"2017","journal-title":"J. Craniofac. Surg."},{"key":"10.1016\/j.jcms.2024.02.010_bib50","series-title":"UMAP: Uniform Manifold Approximation and Projection for Dimension Reduction","author":"McInnes","year":"2020"},{"issue":"4","key":"10.1016\/j.jcms.2024.02.010_bib51","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1038\/ng1295-462","article-title":"Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans","volume":"11","author":"Meyers","year":"1995","journal-title":"Nat. Genet."},{"issue":"8","key":"10.1016\/j.jcms.2024.02.010_bib52","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/s10038-019-0619-z","article-title":"Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan","volume":"64","author":"Mishima","year":"2019","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.jcms.2024.02.010_bib53","volume":"vol. 3","author":"Mohanaiah","year":"2013"},{"issue":"December","key":"10.1016\/j.jcms.2024.02.010_bib54","article-title":"Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: a 3D comparative study","volume":"141","author":"Morice","year":"2020","journal-title":"Bone"},{"issue":"11","key":"10.1016\/j.jcms.2024.02.010_bib55","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1038\/gim.2016.3","article-title":"An electronic atlas of human malformation syndromes in diverse populations","volume":"18","author":"Muenke","year":"2016","journal-title":"Genet. Med.: Official Journal of the American College of Medical Genetics"},{"issue":"1","key":"10.1016\/j.jcms.2024.02.010_bib56","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1186\/s12880-023-01058-7","article-title":"Periaortic adipose radiomics texture features associated with increased coronary calcium score-first results on a photon-counting-CT","volume":"23","author":"Mundt","year":"2023","journal-title":"BMC Med. Imag."},{"issue":"10","key":"10.1016\/j.jcms.2024.02.010_bib57","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1001\/jamadermatol.2019.1633","article-title":"Marking the path toward artificial intelligence-based image classification in dermatology","volume":"155","author":"Novoa","year":"2019","journal-title":"JAMA Dermatology"},{"issue":"1","key":"10.1016\/j.jcms.2024.02.010_bib58","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/ajmg.a.37992","article-title":"Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses","volume":"173","author":"Ohishi","year":"2017","journal-title":"Am. J. Med. Genet."},{"issue":"1\u20132","key":"10.1016\/j.jcms.2024.02.010_bib59","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.ijpharm.2013.10.024","article-title":"In vivo skin capacitive imaging analysis by using grey level Co-occurrence matrix (GLCM)","volume":"460","author":"Ou","year":"2014","journal-title":"Int. J. Pharm."},{"issue":"2","key":"10.1016\/j.jcms.2024.02.010_bib60","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.jobcr.2012.03.011","article-title":"Crouzon syndrome with primary optic nerve atrophy and normal brain functions: a case report","volume":"2","author":"Pal","year":"2012","journal-title":"Journal of Oral Biology and Craniofacial Research"},{"issue":"2","key":"10.1016\/j.jcms.2024.02.010_bib61","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/(SICI)1096-8628(19970808)71:2<243::AID-AJMG27>3.0.CO;2-D","article-title":"Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?","volume":"71","author":"Passos-Bueno","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.jcms.2024.02.010_bib62","series-title":"PyTorch: an Imperative Style, High-Performance Deep Learning Library","author":"Paszke","year":"2019"},{"key":"10.1016\/j.jcms.2024.02.010_bib63","doi-asserted-by":"crossref","DOI":"10.3389\/fonc.2023.1131816","article-title":"Preoperative computed tomography-based tumoral radiomic features prediction for overall survival in resectable non-small cell lung cancer","volume":"13","author":"Peng","year":"2023","journal-title":"Front. Oncol."},{"key":"10.1016\/j.jcms.2024.02.010_bib64","unstructured":"R Core Team (2020). \u2014 European Environment Agency.\u201d n.d. Methodology Reference. Accessed January 18, 2023. https:\/\/www.eea.europa.eu\/data-and-maps\/indicators\/oxygen-consuming-substances-in-rivers\/r-development-core-team-2006."},{"issue":"14","key":"10.1016\/j.jcms.2024.02.010_bib65","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1056\/NEJMra1814259","article-title":"Machine learning in medicine","volume":"380","author":"Rajkomar","year":"2019","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.jcms.2024.02.010_bib66","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1038\/ng0994-98","article-title":"Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome","volume":"8","author":"Reardon","year":"1994","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.jcms.2024.02.010_bib67","doi-asserted-by":"crossref","first-page":"40","DOI":"10.2307\/2992207","article-title":"Extensions of the Procrustes method for the optimal superimposition of landmarks","volume":"39","author":"Rohlf","year":"1990","journal-title":"Syst. Zool."},{"issue":"5","key":"10.1016\/j.jcms.2024.02.010_bib68","doi-asserted-by":"crossref","first-page":"2014","DOI":"10.1097\/PRS.0b013e31820cf16a","article-title":"Audiologic findings in saethre-chotzen syndrome","volume":"127","author":"Rosen","year":"2011","journal-title":"Plast. Reconstr. Surg."},{"issue":"6","key":"10.1016\/j.jcms.2024.02.010_bib69","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1038\/s41431-021-00994-8","article-title":"Using deep-neural-network-driven facial recognition to identify distinct kabuki syndrome 1 and 2 gestalt","volume":"30","author":"Rouxel","year":"2022","journal-title":"Eur. J. Hum. Genet."},{"issue":"August","key":"10.1016\/j.jcms.2024.02.010_bib70","first-page":"2","article-title":"plotROC: a tool for plotting ROC curves","volume":"79","author":"Sachs","year":"2017","journal-title":"J. Stat. Software"},{"issue":"6","key":"10.1016\/j.jcms.2024.02.010_bib71","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/j.bjoms.2009.06.233","article-title":"Role of parental risk factors in the aetiology of isolated non-syndromic metopic craniosynostosis","volume":"48","author":"Singh","year":"2010","journal-title":"Br. J. Oral Maxillofac. Surg."},{"issue":"6","key":"10.1016\/j.jcms.2024.02.010_bib72","doi-asserted-by":"crossref","first-page":"2515","DOI":"10.1073\/pnas.0913985107","article-title":"Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate","volume":"107","author":"Snyder-Warwick","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"4","key":"10.1016\/j.jcms.2024.02.010_bib73","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.jcms.2015.02.005","article-title":"Describing Crouzon and pfeiffer syndrome based on principal component analysis","volume":"43","author":"Staal","year":"2015","journal-title":"J. Cranio-Maxillo-Fac. Surg.: Official Publication of the European Association for Cranio-Maxillo-Facial Surgery"},{"issue":"1","key":"10.1016\/j.jcms.2024.02.010_bib74","doi-asserted-by":"crossref","DOI":"10.1097\/PRS.0000000000005105","article-title":"Correcting exorbitism by monobloc frontofacial advancement in crouzon-pfeiffer syndrome: an age-specific, time-related, controlled study","volume":"143","author":"Way","year":"2019","journal-title":"Plast. Reconstr. Surg."},{"key":"10.1016\/j.jcms.2024.02.010_bib75","article-title":"Molecular and phenotypic expansion of alstr\u00f6m syndrome in Chinese patients","volume":"13","author":"Zhang","year":"2022","journal-title":"Front. Genet."}],"container-title":["Journal of Cranio-Maxillofacial Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1010518224000556?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1010518224000556?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T18:45:47Z","timestamp":1728499547000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1010518224000556"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10]]},"references-count":75,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["S1010518224000556"],"URL":"https:\/\/doi.org\/10.1016\/j.jcms.2024.02.010","relation":{},"ISSN":["1010-5182"],"issn-type":[{"value":"1010-5182","type":"print"}],"subject":[],"published":{"date-parts":[[2024,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"AI-based diagnosis and phenotype \u2013 Genotype correlations in syndromic craniosynostoses","name":"articletitle","label":"Article Title"},{"value":"Journal of Cranio-Maxillofacial Surgery","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jcms.2024.02.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Ltd on behalf of European Association for Cranio-Maxillo-Facial Surgery.","name":"copyright","label":"Copyright"}]}}