Pablo Lapunzina

Epigenetic biomarkers: Current strategies and future challenges for their use in the clinical laboratory

Trygve O Tollefsbol, Carlos Romá-Mateo, José Luis García-Giménez, 2017, Critical reviews in clinical laboratory sciences.

Review for "Phenotero: Annotate as you write"

Pablo Lapunzina, 2018 .

CSVS, a crowdsourcing database of the Spanish population genetic variability

Carlos Loucera, Joaquín Dopazo, Aurora Pujol, 2020, Nucleic Acids Res..

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

Miguel Alaminos, Nazneen Rahman, Manel Esteller, 2009, Proceedings of the National Academy of Sciences.

Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies

Pablo Lapunzina, P. Lapunzina, Rocío Ortiz López, 2013, Genetics and molecular biology.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Sixto García-Miñaur, Sally Ann Lynch, Göran Annerén, 2011, American journal of human genetics.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

Stratification of Wilms tumor by genetic and epigenetic analysis

Nazneen Rahman, Neil J. Sebire, Kathy Pritchard-Jones, 2012, Oncotarget.