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Page 1
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: venturini c. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
SARS-CoV-2 human challenge reveals biomarkers that discriminate early and late phases of respiratory viral infections.
Rosenheim J, Gupta RK, Thakker C, Mann T, Bell LCK, Broderick CM, Madon K, Papargyris L, Dayananda P, Kwok AJ, Greenan-Barrett J, Wagstaffe HR, Conibear E, Fenn J, Hakki S, Lindeboom RGH, Dratva LM, Lemetais B, Weight CM, Venturini C, Kaforou M, Levin M, Kalinova M, Mann AJ, Catchpole A, Knight JC, Nikolić MZ, Teichmann SA, Killingley B, Barclay W, Chain BM, Lalvani A, Heyderman RS, Chiu C, Noursadeghi M. Rosenheim J, et al. Among authors: venturini c. Nat Commun. 2024 Nov 30;15(1):10434. doi: 10.1038/s41467-024-54764-3. Nat Commun. 2024. PMID: 39616162 Free PMC article.
Translating metagenomics into clinical practice for complex paediatric neurological presentations.
Penner J, Hassell J, Brown JR, Mankad K, Storey N, Atkinson L, Ranganathan N, Lennon A, Lee JCD, Champsas D, Kopec A, Shah D, Venturini C, Dixon G, De S, Hatcher J, Harris K, Aquilina K, Kusters MA, Moshal K, Shingadia D, Worth AJJ, Lucchini G, Merve A, Jacques TS, Bamford A, Kaliakatsos M, Breuer J, Morfopoulou S. Penner J, et al. Among authors: venturini c. J Infect. 2023 Nov;87(5):451-458. doi: 10.1016/j.jinf.2023.08.002. Epub 2023 Aug 7. J Infect. 2023. PMID: 37557958 No abstract available.
Evaluating metagenomics and targeted approaches for diagnosis and surveillance of viruses.
Buddle S, Forrest L, Akinsuyi N, Martin Bernal LM, Brooks T, Venturini C, Miller C, Brown JR, Storey N, Atkinson L, Best T, Roy S, Goldsworthy S, Castellano S, Simmonds P, Harvala H, Golubchik T, Williams R, Breuer J, Morfopoulou S, Torres Montaguth OE. Buddle S, et al. Among authors: venturini c. Genome Med. 2024 Sep 9;16(1):111. doi: 10.1186/s13073-024-01380-x. Genome Med. 2024. PMID: 39252069 Free PMC article.
Using a human colonoid-derived monolayer to study bacteriophage translocation.
Le HT, Lubian AF, Bowring B, van der Poorten D, Iredell J, George J, Venturini C, Ahlenstiel G, Read S. Le HT, et al. Among authors: venturini c. Gut Microbes. 2024 Jan-Dec;16(1):2331520. doi: 10.1080/19490976.2024.2331520. Epub 2024 Mar 22. Gut Microbes. 2024. PMID: 38517357 Free PMC article.
Use of Bacteriophages to Target Intracellular Pathogens.
Fajardo-Lubian A, Venturini C. Fajardo-Lubian A, et al. Among authors: venturini c. Clin Infect Dis. 2023 Nov 2;77(Suppl 5):S423-S432. doi: 10.1093/cid/ciad515. Clin Infect Dis. 2023. PMID: 37932114 Review.
169 results