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Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.
Marais A, Bertoli-Avella AM, Beetz C, Altunoglu U, Alhashem A, Mohamed S, Alghamdi A, Willems P, Tsoutsou E, Fryssira H, Pons R, Almarzooq R, Karatoprak EY, Ayaz A, Ünverengil G, Calvo M, Yüksel Z, Bauer P. Marais A, et al. Among authors: calvo m. Eur J Med Genet. 2022 Aug;65(8):104537. doi: 10.1016/j.ejmg.2022.104537. Epub 2022 Jun 9. Eur J Med Genet. 2022. PMID: 35690317
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: calvo m. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.
Immune dysregulation caused by homozygous mutations in CBLB.
Janssen E, Peters Z, Alosaimi MF, Smith E, Milin E, Stafstrom K, Wallace JG, Platt CD, Chou J, El Ansari YS, Al Farsi T, Ameziane N, Al-Ali R, Calvo M, Rocha ME, Bauer P, Al-Sannaa NA, Al Sukaiti NF, Alangari AA, Bertoli-Avella AM, Geha RS. Janssen E, et al. Among authors: calvo m. J Clin Invest. 2022 Oct 17;132(20):e154487. doi: 10.1172/JCI154487. J Clin Invest. 2022. PMID: 36006710 Free PMC article.
Viral shedding and viraemia of Andes virus during acute hantavirus infection: a prospective study.
Ferrés M, Martínez-Valdebenito C, Henriquez C, Marco C, Angulo J, Barrera A, Palma C, Barriga Pinto G, Cuiza A, Ferreira L, Rioseco ML, Calvo M, Fritz R, Bravo S, Bruhn A, Graf J, Llancaqueo A, Rivera G, Cerda C, Tischler N, Valdivieso F, Vial P, Mertz G, Vial C, Le Corre N. Ferrés M, et al. Among authors: calvo m. Lancet Infect Dis. 2024 Apr 3:S1473-3099(24)00142-7. doi: 10.1016/S1473-3099(24)00142-7. Online ahead of print. Lancet Infect Dis. 2024. PMID: 38582089
Assessing environmental exposure to viruses in wastewater treatment plant and swine farm scenarios with next-generation sequencing and occupational risk approaches.
Itarte M, Calvo M, Martínez-Frago L, Mejías-Molina C, Martínez-Puchol S, Girones R, Medema G, Bofill-Mas S, Rusiñol M. Itarte M, et al. Among authors: calvo m. Int J Hyg Environ Health. 2024 Mar 30;259:114360. doi: 10.1016/j.ijheh.2024.114360. Online ahead of print. Int J Hyg Environ Health. 2024. PMID: 38555823 Free article.
1,392 results