SNPassoc: an R package to perform whole genome association studies. - Juan R. González; Lluís Armengol; Xavier Solé; Elisabet Guinó; Josep M. Mercader; Xavier Estivill; Víctor Moreno (Bioinform., 2007)

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA). - Juan R. González; Josep L. Carrasco; Lluís Armengol; Sergi Villatoro; Lluís Jover; Yutaka Yasui; Xavier Estivill (BMC Bioinform., 2008)

Accounting for uncertainty when assessing association between copy number and disease: a latent class model. - Juan R. González; Isaac Subirana; Geòrgia Escaramís; Solymar Peraza; Alejandro Cáceres; Xavier Estivill; Lluís Armengol (BMC Bioinform., 2009)

A non-biased framework for the annotation and classification of the non-miRNA small RNA transcriptome. - Lorena Pantano; Xavier Estivill; Eulalia Martí (Bioinform., 2011)

Specific small-RNA signatures in the amygdala at premotor and motor stages of Parkinson's disease revealed by deep sequencing analysis. - Lorena Pantano; Marc R. Friedländer; Geòrgia Escaramís; Esther Lizano; Joan Pallarès-Albanell; Isidre Ferrer; Xavier Estivill; Eulalia Martí (Bioinform., 2016)

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. - Esther Rheinbay; Morten Muhlig Nielsen; Federico Abascal; Jeremiah Wala; Ofer Shapira; Grace Tiao; Henrik Hornshøj; Julian M. Hess; Randi Istrup Juul; Ziao Lin; Lars Feuerbach; Radhakrishnan Sabarinathan; et al. (Nat., 2020)

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation. - Hana Susak; Laura Serra-Saurina; German Demidov; Raquel Rabionet; Laura Domènech; Mattia Bosio; Francesc Muyas; Xavier Estivill; Geòrgia Escaramís; Stephan Ossowski (PLoS Comput. Biol., 2021)

Genome sequencing data analysis for rare disease gene discovery. - Umm-Kulthum Ismail Umlai; Dhinoth Kumar Bangarusamy; Xavier Estivill; Puthen Veettil Jithesh (Briefings Bioinform., 2022)