Raquel Rabionet

TTC7B Emerges as a Novel Risk Factor for Ischemic Stroke Through the Convergence of Several Genome-Wide Approaches

José M Ferro, Israel Fernandez-Cadenas, J. Ferro, 2012, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

Stylianos E. Antonarakis, Xavier Estivill, Torsten Schwede, 2002, Journal of Molecular Medicine.

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

Xavier Estivill, X. Estivill, K. Willecke, 2002, Human Genetics.

Lack of association between autism and SLC25A12.

Eden R Martin, John R Gilbert, Jonathan L Haines, 2006, The American journal of psychiatry.

MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function.

Xavier Estivill, Isidre Ferrer, X. Estivill, 2011, Human molecular genetics.

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

Gunnar Rätsch, Mark Gerstein, Li Ding, 2017, bioRxiv.

eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

Xavier Estivill, Stephan Ossowski, Daniela Bezdan, 2019, Human mutation.