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Page 1
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
Hennocq Q, Lienhard O, Rao D, Amiel J, Benichou L, Bongibault T, Hidalgo AB, Cormier-Daire V, Lyonnet S, Picard A, Rio M, Zaiter A, Garcelon N, Tkemaladze T, Khonsari RH. Hennocq Q, et al. Among authors: rio m. Clin Genet. 2024 Dec 26. doi: 10.1111/cge.14682. Online ahead of print. Clin Genet. 2024. PMID: 39726094
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.
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 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.
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.
RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. Talarico M, et al. Among authors: rio m. Genet Med. 2024 Dec 17:101347. doi: 10.1016/j.gim.2024.101347. Online ahead of print. Genet Med. 2024. PMID: 39707840 Free article.
Resistant and refractory migraine - two different entities with different comorbidities? Results from the REFINE study.
Rosignoli C, Ornello R, Caponnetto V, Onofri A, Avaltroni S, Braschinsky M, Šved O, Gil-Gouveia R, Lampl C, Paungarttner J, Martelletti P, Wells-Gatnik WD, Martins IP, Mitsikostas D, Apostolakopoulou L, Nabaei G, Ozge A, Narin DB, Pozo-Rosich P, Muñoz-Vendrell A, Prudenzano MP, Gentile M, Ryliskiene K, Vainauskiene J, Del Rio MS, Vernieri F, Iaccarino G, Waliszewska-Prosol M, Budrewicz S, Carnovali M, Katsarava Z, Sacco S. Rosignoli C, et al. Among authors: del rio ms. J Headache Pain. 2024 Dec 3;25(1):212. doi: 10.1186/s10194-024-01910-3. J Headache Pain. 2024. PMID: 39627727 Free PMC article.
A Contemporary Picture of Coagulase-Negative Staphylococcal Endocarditis: A Nationwide GAMES Cohort Study.
Palom-Grau C, Cuervo G, Muñoz P, Marín Arriaza M, Martínez-Sellés M, González-Ramallo V, de Alarcón A, Poyato-Borrego M, Rodríguez-García R, Rodríguez-Esteban MÁ, Fariñas MC, González-Rico C, Goenaga MÁ, Ojeda-Burgos G, Goikoetxea-Agirre AJ, Calderón-Parra J, López-Azor JC, García-Vázquez E, Loeches B, Quintana E, García de la Mària C, Llopis J, Miró JM; GAMES Investigators. Palom-Grau C, et al. J Am Coll Cardiol. 2024 Oct 25:S0735-1097(24)08573-5. doi: 10.1016/j.jacc.2024.09.027. Online ahead of print. J Am Coll Cardiol. 2024. PMID: 39580721
1,135 results