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Page 1
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, Shimelis H, Taylor CM, Pounraja VK, Song H, Rohan L, Huber E, El Khattabi L, van de Laar I, Tadros R, Bezzina C, van Slegtenhorst M, Kammeraad J, Prontera P, Caberg JH, Fraser H, Banka S, Van Dijck A, Schwartz C, Voorhoeve E, Callier P, Mosca-Boidron AL, Marle N, Lefebvre M, Pope K, Snell P, Boys A, Lockhart PJ, Ashfaq M, McCready E, Nowacyzk M, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Bruccheri MG, Mandarà GML, Mari F, Privitera F, Longo I, Curró A, Renieri A, Keren B, Charles P, Cuinat S, Nizon M, Pichon O, Bénéteau C, Stoeva R, Martin-Coignard D, Blesson S, Le Caignec C, Mercier S, Vincent M, Martin C, Mannik K, Reymond A, Faivre L, Sistermans E, Kooy RF, Amor DJ, Romano C, Andrieux J, Girirajan S. Jensen M, et al. Among authors: avola e. medRxiv [Preprint]. 2024 Aug 28:2024.08.27.24312158. doi: 10.1101/2024.08.27.24312158. medRxiv. 2024. PMID: 39252907 Free PMC article. Preprint.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Luana Mandarà GM, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S. Smolen C, et al. Among authors: avola e. Am J Hum Genet. 2023 Dec 7;110(12):2015-2028. doi: 10.1016/j.ajhg.2023.10.015. Epub 2023 Nov 17. Am J Hum Genet. 2023. PMID: 37979581 Free PMC article.
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà GML, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S. Smolen C, et al. Among authors: avola e. medRxiv [Preprint]. 2023 May 26:2023.05.18.23290169. doi: 10.1101/2023.05.18.23290169. medRxiv. 2023. Update in: Am J Hum Genet. 2023 Dec 7;110(12):2015-2028. doi: 10.1016/j.ajhg.2023.10.015 PMID: 37292616 Free PMC article. Updated. Preprint.
An approach to evaluate the quality of radiological reports in Head and Neck cancer loco-regional staging: experience of two Academic Hospitals.
Giannitto C, Esposito AA, Spriano G, De Virgilio A, Avola E, Beltramini G, Carrafiello G, Casiraghi E, Coppola A, Cristofaro V, Farina D, Gaino F, Lastella G, Lofino L, Maroldi R, Piccoli F, Pignataro L, Preda L, Russo E, Solimeno L, Vatteroni G, Vidiri A; Head Neck Tumor Board Humanitas; Balzarini L, Mercante G. Giannitto C, et al. Among authors: avola e. Radiol Med. 2022 Apr;127(4):407-413. doi: 10.1007/s11547-022-01464-x. Epub 2022 Mar 8. Radiol Med. 2022. PMID: 35258775
Machine Learning to Predict In-Hospital Mortality in COVID-19 Patients Using Computed Tomography-Derived Pulmonary and Vascular Features.
Schiaffino S, Codari M, Cozzi A, Albano D, Alì M, Arioli R, Avola E, Bnà C, Cariati M, Carriero S, Cressoni M, Danna PSC, Della Pepa G, Di Leo G, Dolci F, Falaschi Z, Flor N, Foà RA, Gitto S, Leati G, Magni V, Malavazos AE, Mauri G, Messina C, Monfardini L, Paschè A, Pesapane F, Sconfienza LM, Secchi F, Segalini E, Spinazzola A, Tombini V, Tresoldi S, Vanzulli A, Vicentin I, Zagaria D, Fleischmann D, Sardanelli F. Schiaffino S, et al. Among authors: avola e. J Pers Med. 2021 Jun 3;11(6):501. doi: 10.3390/jpm11060501. J Pers Med. 2021. PMID: 34204911 Free PMC article.
Pseudo-pneumatosis of the gastrointestinal tract: its incidence and the accuracy of a checklist supported by artificial intelligence (AI) techniques to reduce the misinterpretation of pneumatosis.
Esposito AA, Zannoni S, Castoldi L, Giannitto C, Avola E, Casiraghi E, Catalano O, Carrafiello G. Esposito AA, et al. Among authors: avola e. Emerg Radiol. 2021 Oct;28(5):911-919. doi: 10.1007/s10140-021-01932-3. Epub 2021 May 22. Emerg Radiol. 2021. PMID: 34021845
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF; SPARK Consortium; Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE. Wang T, et al. Among authors: avola e. Nat Commun. 2020 Oct 21;11(1):5398. doi: 10.1038/s41467-020-19289-5. Nat Commun. 2020. PMID: 33087701 Free PMC article.
29 results