Visualitza VHIR - Articles científics per autor "Padilla Sirera, Natalia"
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Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence
Álvarez de la Crespo, Elena; Padilla Sirera, Natalia; De la Cruz Montserrat, Fco. Xavier (BMC, 2017-08-11) -
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Padilla Sirera, Natalia; Cueto Gonzalez, Anna Maria; De la Cruz Montserrat, Fco. Xavier (American Association for the Advancement of Science, 2023-03-10) -
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum
Aguilera, Cinthia; Gabau, Elisabeth; Ramirez-Mallafre, Ariadna; Brun-Gasca, Carme; Dominguez-Carral, Jana; Delgadillo, Veronica; Padilla Sirera, Natalia; De la Cruz Montserrat, Fco. Xavier (Public Library of Science, 2021-10-15) -
The histone demethylase PHF8 regulates astrocyte differentiation and function
Iacobucci, Simona; Padilla Sirera, Natalia; Gabrielli, Martina; Navarro, Claudia; Lombardi, Marta; Vicioso Mantis, Marta; De la Cruz Montserrat, Fco. Xavier (Company of Biologists, 2021-06) -
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants
Padilla Sirera, Natalia; De la Cruz Montserrat, Fco. Xavier; Ozkan, Selen (MDPI, 2021-06)