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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Domingo-Gallego A, Pybus M, Bullich G, Furlano M, Ejarque-Vila L, Lorente-Grandoso L, Ruiz P, Fraga G, López González M, Piñero-Fernández JA, Rodríguez-Peña L, Llano-Rivas I, Sáez R, Bujons-Tur A, Ariceta G, Guirado L, Torra R, Ars E. Domingo-Gallego A, et al. Among authors: pybus m. Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019. Nephrol Dial Transplant. 2022. PMID: 33532864
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F. Krausz C, et al. Among authors: pybus m. Genet Med. 2020 Dec;22(12):1956-1966. doi: 10.1038/s41436-020-0907-1. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741963 Free PMC article.
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R. Furlano M, et al. Among authors: pybus m. Am J Kidney Dis. 2021 Oct;78(4):560-570.e1. doi: 10.1053/j.ajkd.2021.02.326. Epub 2021 Apr 7. Am J Kidney Dis. 2021. PMID: 33838161 Free article.
Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
Domingo-Gallego A, Pybus M, Madariaga L, Piñero-Fernández JA, González-Pastor S, López-González M, Simarro-Rueda E, Quintanilla-Mata ML, Matoses-Ruipérez ML, Ejarque-Vila L, Cornec-Le Gall E, Guirado L, Torra R, Ariceta G, Ars E. Domingo-Gallego A, et al. Among authors: pybus m. Nephrol Dial Transplant. 2022 Sep 22;37(10):1906-1915. doi: 10.1093/ndt/gfab285. Nephrol Dial Transplant. 2022. PMID: 34610128
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E; GEMINI Consortium; Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz C. Riera-Escamilla A, et al. Among authors: pybus m. Am J Hum Genet. 2022 Aug 4;109(8):1458-1471. doi: 10.1016/j.ajhg.2022.06.007. Epub 2022 Jul 8. Am J Hum Genet. 2022. PMID: 35809576 Free PMC article.
Recombination networks as genetic markers in a human variation study of the Old World.
Javed A, Melé M, Pybus M, Zalloua P, Haber M, Comas D, Netea MG, Balanovsky O, Balanovska E, Jin L, Yang Y, Arunkumar G, Pitchappan R, Bertranpetit J, Calafell F, Parida L; Genographic Consortium. Javed A, et al. Among authors: pybus m. Hum Genet. 2012 Apr;131(4):601-13. doi: 10.1007/s00439-011-1104-8. Epub 2011 Oct 18. Hum Genet. 2012. PMID: 22006219
A new method to reconstruct recombination events at a genomic scale.
Melé M, Javed A, Pybus M, Calafell F, Parida L, Bertranpetit J; Genographic Consortium Members. Melé M, et al. Among authors: pybus m. PLoS Comput Biol. 2010 Nov 24;6(11):e1001010. doi: 10.1371/journal.pcbi.1001010. PLoS Comput Biol. 2010. PMID: 21124860 Free PMC article.
89 results