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AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.
Hennocq Q, Paternoster G, Collet C, Amiel J, Bongibault T, Bouygues T, Cormier-Daire V, Douillet M, Dunaway DJ, Jeelani NO, van de Lande LS, Lyonnet S, Ong J, Picard A, Rickart AJ, Rio M, Schievano S, Arnaud E, Garcelon N, Khonsari RH. Hennocq Q, et al. Among authors: rio m. J Craniomaxillofac Surg. 2024 Oct;52(10):1172-1187. doi: 10.1016/j.jcms.2024.02.010. Epub 2024 Feb 5. J Craniomaxillofac Surg. 2024. PMID: 39187417 Free article.
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, Picard A, Porntaveetus T, Rio M, Rouxel F, Shotelersuk V, Toutain A, Yauy K, Geneviève D, Khonsari RH, Garcelon N. Hennocq Q, et al. Among authors: rio m. Sci Rep. 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. Sci Rep. 2024. PMID: 38282012 Free PMC article.
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, Boutaud L, Carpentier G, Corre P, Denoyelle F, Djate Delbrah F, Douillet M, Galliani E, Kamolvisit W, Lyonnet S, Milea D, Pingault V, Porntaveetus T, Touzet-Roumazeille S, Willems M, Picard A, Rio M, Garcelon N, Khonsari RH. Hennocq Q, et al. Among authors: rio m. Front Pediatr. 2023 Aug 17;11:1171277. doi: 10.3389/fped.2023.1171277. eCollection 2023. Front Pediatr. 2023. PMID: 37664547 Free PMC article.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia … See abstract for full author list ➔ Li D, et al. Among authors: rio m. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
LSM7 variants involving key amino-acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.
Crespin M, Siquier-Pernet K, Marzin P, Bole-Feysot C, Malan V, Nitschké P, Hully M, Roux CJ, Lemoine M, Rio M, Boddaert N, Courtin T, Cantagrel V. Crespin M, et al. Among authors: rio m. HGG Adv. 2024 Oct 16:100372. doi: 10.1016/j.xhgg.2024.100372. Online ahead of print. HGG Adv. 2024. PMID: 39420558 Free article.
A survey of openEHR Clinical Data Repositories.
Delussu G, Frexia F, Mascia C, Sulis A, Meloni V, Del Rio M, Lianas L. Delussu G, et al. Among authors: del rio m. Int J Med Inform. 2024 Nov;191:105591. doi: 10.1016/j.ijmedinf.2024.105591. Epub 2024 Aug 14. Int J Med Inform. 2024. PMID: 39191089 Review. No abstract available.
National disparities favoring males are reflected in girls' implicit associations about gender and academic subjects.
Cvencek D, Sanders EA, Del Río MF, Susperreguy MI, Strasser K, Brečić R, Gaćeša D, Skala D, Tomasetto C, Galdi S, Cadinu M, Kapur M, Passolunghi MC, Rueda Ferreira TI, Mirisola A, Mariani B, Meltzoff AN. Cvencek D, et al. Among authors: del rio mf. Dev Psychol. 2024 Aug 22. doi: 10.1037/dev0001797. Online ahead of print. Dev Psychol. 2024. PMID: 39172414
1,130 results