Alexandra Pérez-Serra; Rocío Toro; Estefanía Martinez-Barrios; Anna Iglesias; Anna Fernandez-Falgueras; Mireia Alcalde; Mónica Coll; Marta Puigmulé; Bernat del Olmo; Ferran Picó; Laura Lopez; Elena Arbelo; Sergi Cesar; Coloma "Implementing a new algorithm for reinterpretation of ambiguous variants in genetic dilated cardiomyopathy.." International Journal of Molecular Sciences 25 (2024): 3807-. Camps-Vilaró A, Pinsach-Abuin ML, Degano IR, Ramos R, Martí-Lluch R, Elosua R, Subirana I, Solà-Richarte C, Puigmulé M, Pérez A, Vilaró I, Cruz R, Diz-de Almeida S, Nogues X, Masclans JR, Güerri-Fernández R, Marin J, Tizon-Ma "Genetic characteristics involved in COVID-19 severity. The CARGENCORS case-control study and meta-analysis." Journal of Medical Virology 96 (2024): e29404-. Cesar S, Coll M, Fiol V, Fernandez-Falgueras A, Cruzalegui J, Iglesias A, Moll I, Perez-Serra A, Martínez-Barrios E, Ferrer-Costa C, Del Olmo B, Puigmulè M, Alcalde M, Lopez L, Pico F, Berrueco R, Brugada J, Zschaeck I, Nater "LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation." Frontiers In Genetics 14 (2023): -. Martinez-Barrios E, Sarquella-Brugada G, Perez-Serra A, Fernandez-Falgueras A, Cesar S, Alcalde M, Coll M, Puigmulé M, Iglesias A, Ferrer-Costa C, Del Olmo B, Picó F, Lopez L, Fiol V, Cruzalegui J, Hernandez C, Arbelo E, Díez "Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort." International Journal of Legal Medicine 13 (2023): 347-351. Monica Coll, Anna Fernandez-Falgueras, Anna Iglesias, Bernat del Olmo, Laia Nogue-Navarro, Adria Simon, Alexandra Perez Serra, Marta Puigmule, Laura Lopez, Ferran Pico, Monica Corona, Marta Vallverdu-Prats, Coloma Tiron, Osca "Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples." International Journal of Molecular Sciences 23 (2022): 12640-. Coll M, Fernàndez-Falgueras A, Tiron C, Iglesias A, Buxó M, Simón A, Nogué-Navarro L, Moral S, Pérez-Serra A, Puigmulé M, Del Olmo B, Campuzano O, Castellà J, Picó F, Lopez L, Neto N, Corona M, Alcalde M, Brugada R. "Post-mortem toxicology analysis in a young sudden cardiac death cohort." Forensic Science International:Genetics 59 (2022): -. Alcalde M, Nogué-Navarro L, Tiron C, Fernandez-Falgueras A, Iglesias A, Simon A, Buxó M, Pérez-Serra A, Puigmulé M, López L, Picó F, Del Olmo B, Corona M, Campuzano O, Moral S, Castella J, Coll M, Brugada R. "Rare variants in genes encoding structural myocyte contribute to a thickened ventricular septum in sudden death population without ventricular alterations." Forensic Science International:Genetics 58 (2022): -. Martínez-Barrios E, Sarquella-Brugada G, Pérez-Serra A, Fernández-Falgueras A, Cesar S, Coll M, Puigmulé M, Iglesias A, Alcalde M, Vallverdú-Prats M, Ferrer-Costa C, Del Olmo B, Picó F, López L, Fiol V, Cruzalegui J, Hernánde "Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes." Journal Of Personalized Medicine 12 (2022): 241-. Puigmulé M; Coll M; Pérez-Serra A; López L; Picó F; Neto N; Corona M; Pinsach-Abuin ML; Ferrer-Costa C; Buxó M; Queralt FX; Brugada R. "High-quality RNA improves sensitivity of SARS-CoV-2 detection by colorimetric RT-LAMP.." Experimental Biology and Medicine (2022): -. Georgia Sarquella‑Brugada, Anna Fernandez‑Falgueras, Sergi Cesar, Elena Arbelo, Mónica Coll, Alexandra Perez‑Serra, Marta Puigmulé, Anna Iglesias, Mireia Alcalde, Marta Vallverdú‑Prats, Victoria Fiol, "Clinical impact of rare variants associated with inherited channelopathies: a 5-year update." Human Genetics undef (2021): undef-. Sarquella-Brugada G, García-Algar O, Zambrano MD, Fernández-Falgueres A, Sailer S, Cesar S, Sebastiani G, Martí-Almor J, Aurensanz E, Cruzalegui JC, Merchan EF, Coll M, Pérez-Serra A, Del Olmo B, Fiol V, Iglesias A, Ferrer-Co "Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death.." Frontiers In Pediatrics 9 (2021): -. Marta Vallverdú-Prats, Mireia Alcalde, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Anna Fernandez-Falgueras, Mónica Coll, Alexandra Pérez-Serra, Marta Puigmulé, Anna Iglesias, Victoria Fiol, Carles Ferrer-Costa, Ber "Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later." Journal Of Personalized Medicine 11 (2021): 162-. Campuzano O, Fernandez-Falgueras A, Lemus X, Sarquella-Brugada G, Cesar S, Coll M, Mates J, Arbelo E, Jordà P, Perez-Serra A, Del Olmo B, Ferrer-Costa C, Iglesias A, Fiol V, Puigmulé M, Lopez L, Pico F, Brugada J, Brugada R. "Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants." Journal of Clinical Medicine 8 (2019): 1035-. Campuzano O, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Arbelo E, García-Álvarez A, Jordà P, Coll M, Fiol V, Iglesias A, Perez-Serra A, Mates J, Del Olmo B, Ferrer C, Alcalde M, Puigmulé M, Mademont-Soler I, Pico F, "Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.." Frontiers In Genetics 10 (2019): -. Campuzano O, Beltramo P, Fernandez A, Iglesias A, García L, Allegue C, Sarquella-Brugada G, Coll M, Perez-Serra A, Mademont-Soler I, Mates J, Del Olmo B, Rodríguez Á, Maciel N, Puigmulé M, Pico F, Cesar S, Brugada J, Cuesta A "Molecular autopsy in a cohort of infants died suddenly at rest." Forensic Science International:Genetics 37 (2018): 54-63. Coll, Mònica; Pérez-Serra, Alexandra; Del Olmo, Bernat; Puigmulé, Marta; Fernandez-Falgueras, Anna; Iglesias, Anna; Picó, Ferran, Lopez, Laura; Brugada, Ramon; Campuzano, Oscar "Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death." Biology 7 (2017): 3-. Pinart, E.; Yeste, M.; Puigmulé, M.; Barrera, X.; Bonet, S. "Acrosin activity is a suitable indicator of boar semen preservation at 17 °C when increasing environmental temperature and radiation." Theriogenology 80 (2013): 234-247. Fàbrega, A.; Puigmulé, M.; Bonet, S.; Pinart, E. "Epididymal maturation and ejaculation are key events for further in vitro capacitation of boar spermatozoa." Theriogenology 78 (2012): 867-877. Fábrega A; Puigmulé M; Dacheux JL; Bonet S; Pinart E "Glycocalix characterisation and glycoprotein expression of Sus domesticus epididymal sperm surface samples." Reproduction, Fertility and Development 24 (2012): 619-630. Puigmulé, M.; Fábrega, A.; Yeste, M.; Bonet, S.; Pinart, E. "Study of the proacrosin-acrosin system in epididymal, ejaculated and in vitro capacitated boar spermatozoa." Reproduction, Fertility and Development 23 (2011): 836-845. Fábrega, A.; Puigmulé, M.; Yeste, M.; Casas, I.; Bonet, S.; Pinart, E. "Impact of epididymal maturation, ejaculation and in vitro capacitation on tyrosine phosphorylation patterns exhibited of boar (Sus domesticus) spermatozoa." Theriogenology 76 (2011): 1356-1366. Fàbrega, A; Guyonnet, B; Dacheux, JL.; Gatti, JL.; Puigmulè, M.; Bonet, S.; Pinart, E. "Expression, immunolocalization and processing of fertilins ADAM-1 and ADAM-2 in the boar (Sus domesticus) spermatozoa during epididymal maturation." Reproductive Biology and Endocrinology 9 (2011): 96-109. Suñé, G.; Sarró, E.; Puigmulé, M.; López-Hellín, J.; Zufferey, M; Pertel, T.; Luban, J.; Meseguer, A. "Cyclophilin B interacts with sodium ATPase and is required for pump activity in proximal tubule cells of the kidney." PLoS One 5 (2010): 1-10. Puigmulé, M.; López, J.; Suñé, G.; Tornavaca, O.; Camaño, S; Tejedor, A; Meseguer, A. "Differential proteomic analysis of cyclosporine A-induced toxicity in proximal tubule derived cell lines." Nephrology Dialysis Transplantation 24 (2009): 2672-2686. Bonet, S.; Briz, M.; Pinart, E.; Sancho, S.; Bussalleu, E.; Yeste, M.; Casas, I.; Fàbrega, A.; Puigmulé, M.; García, E.; Santos, M.; Torner, E.; Micaló, S. "Biotecnologia reproductiva en porcí: estat actual i reptes de futur." Treballs de la Societat Catalana de Biologia 59 (2008): 141-150.
Jordà P, Toro R, Diez C, Salazar-Mendiguchía J, Fernandez-Falgueras A, Perez-Serra A, Coll M, Puigmulé M, Arbelo E, García-Álvarez A, Sarquella-Brugada G, Cesar S, Tiron C, Iglesias A, Brugada J, Brugada R, Campuzano O. "Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach." Journal Of Personalized Medicine 11 (2021): 130-. Mates J, Mademont-Soler I, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Arbelo E, García-Álvarez A, Jordà P, Toro R, Coll M, Fiol V, Iglesias A, Perez-Serra A, Olmo BD, Alcalde M, Puigmulé M, Pico F, Lopez L, Ferrer C "Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?." Forensic Science International:Genetics (2020): -.
Bonet, S.; Briz, M.D.; Fàbrega, A.; Puigmulé, M.; Rodríguez, R.A.; Yeste, M. "La aptitud fecundante del semen en porcino." ALBÉITAR 161 (2012): 10-11.
Casas, I.; Torner, E.; Yeste, M.; Puigmulé, M.; Bonet, S. "The number of straws thawed influences motility in boar cryopreserved sperm." Reproduction in Domestic Animals 47 (2012): 98-98. Puigmulé, M.; Fàbrega, A.; Yeste, M.; Pinart, E.; Briz, M.; Bonet, S. "Effect of liquid storage in short- and long-term extenders on cell viability, apoptosis and acrosome integrity of boar spermatozoa." Reproduction in Domestic Animals 47 (2012): 101-101. Casas, I.; Sancho, S.; Briz, M.; Sánchez, E.; Fàbrega, A.; Puigmulé, M.; Yeste, M.; Bonet, S. "Boar sperm from good freezability ejaculates maintain inner Cu/ZnSOD levels for up to six hours after thawing." Reproduction in Domestic Animals 46 (2011): 93-94. Puigmulé, M.; Fàbrega, A.; Yeste, M.; Bussalleu, E.; Briz, M.; Bonet, S.; Pinart, E. "Pro/acrosin activity analysis along porcine epididymis." Reproduction in Domestic Animals 46 (2011): 143-143. Fàbrega, A; Puigmulé, M; Bussalleu, E; Briz, M; Bonet, S; Pinart, E. "Phosphotyrosine glycogen synthase kinase 3 expression in boar epididymal and ejaculated spermatozoa." Reproduction in Domestic Animals 46 (2011): 102-102. Puigmulé, M.; Fàbrega, A.; Briz, M.; Sancho, S.; Bussalleu, E.; Yeste, M.; Casas, I.; García, E.; Torner, E.; Bonet, S.; Pinart, E. "Pro/acrosin activity and western blot analysis in capacited and non-capacited boar spermatozoa." Reproduction in Domestic Animals 45 (2010): 70-70. Casas, I.; Sancho, S.; Briz, M.; Bussalleu, E.; Yeste, M.; Fàbrega, A.; Puigmulé, M.; Garcia, E.; Torner, E.; Castillo, M.; Bonet, S. "Does fructose in BTS improve quality parameters in boar frozen-thawed sperm?." Reproduction in Domestic Animals 45 (2010): 63-63. Casas, I.; Sancho, S.; Briz, M.; Pinart, E.; Bussalleu, E.; Yeste, M.; Fàbrega, A.; Puigmulé, M.; García, E.; Torner, E.; Castillo, M.; Bonet, S. "Testing sonication conditions on boar sperm pellets to maximize protein recovery in supernatants." Reproduction in Domestic Animals 45 (2010): 95-95. Puigmulé, M.; Fàgrega, A.; Briz, M.; Sancho, S.; Bussalleu, E.; Yeste, M.; Casas, I.; García, E.; Torner, E.; Bonet, S.; Pinart. E. "Optimization of the In Vitro capacitation time of boar spermatozoa by assesment of sperm viability and membrane fluidity." Reproduction in Domestic Animals 45 (2010): 97-97. Fàbrega, A.; Puigmulé, M.; Briz, M.; Sancho, S.; Bussalleu, E.; Yeste, M.; Casas, I.; García, E.; Torner, E.; Bonet, S.; Pinart. E. "Immunolocalization of proacrosin in epididymal spermatozoa from fertile boars." Reproduction in Domestic Animals 45 (2010): 97-97. Fàbrega, A.; Puigmulé, M.; Briz, M.; Sancho, S.; Bussalleu, E.; Yeste, M.; Casas, I.; Garcia, E.; Bonet, S; Pinart, E. "Pro/acrosin expression in epidydimal spermatozoa from fertile boars." Reproduction in Domestic Animals 44 (2009): 83-83. Casas, I.; Briz, M.; Sancho, S.; Pinart, E.; Bussalleu, E.; Yeste, M.; Fàbrega, A.; Puigmulé, M.; García, E.; Bonet, S. "Freezability of Pietrain boar ejaculates evaluated by sperm kinematics." Reproduction in Domestic Animals 44 (2009): 83-83. Casas, I.; Sancho, S.; Briz, M.; Pinart, E.; Bussalleu, E.; Yeste, M.; Fàbrega, A.; Puigmulé, M.; García, E.; Bonet, S. "Quality of frozen-thawed boar sperm after different dilutions in BTS." Reproduction in Domestic Animals 43 (2008): 72-72. Bussalleu, E; Pinart, E; Yeste, M; Briz, M; Sancho, S; Casas, I; Fàbrega, A; Puigmulé, M; Garcia, E; Santos, M; Bonet, S. "Correlation between sperm motility, mitochondrial sheath integrity and L-lactate production in asthenospermic boars." Reproduction in Domestic Animals 43 (2008): 54-55. Yeste, M; Briz, M; Pinart, E; Bussalleu, E; Casas, I; Fàbrega, A; Puigmulé, M; Garcia-Bonavila, E; Bonet, S. "Boar sperm quality after addition of pentoxifylline to short-term extender." Reproduction in Domestic Animals 43 (2008): 219-219. Yeste, M.; Briz, M.; Pinart, E.; Sancho, S.; Bussalleu, E.; Casas, I.; Fàbrega, A.; Puigmulé, M.; García-Bonavila, E.; Bonet, S. "Boar sperm quality alter addition of pentoxifyline to short-term extender." Reproduction in Domestic Animals 43 (2008): 219-219.