Patricia Álvarez

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

Gabriela M. Repetto, Maria Guzman, Iris Delgado et al. · BMJ Open · 2014 · 60 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

Irene Mademont‐Soler, Jesús Matés, Raquel Yotti et al. · PLoS ONE · 2017 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Detection of Carbapenemase Genes in Aquatic Environments in Rio de Janeiro, Brazil

Carlos Felipe Machado de Araújo, Dalton Marcondes Silva, Marcos Tavares Carneiro et al. · Antimicrobial Agents and Chemotherapy · 2016 · 58 citations · Full text

Life Sciences, Genetics, Microbiology +17

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

Jesús Matés, Irene Mademont‐Soler, Bernat del Olmo et al. · European Journal of Human Genetics · 2018 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

Luis León, Felipe Benavides, Karena Espinoza et al. · Scientific Reports · 2017 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17