María del Valle Enguix-Riego

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease

P. Sham, S. Cherny, J. Dopazo, 2015, Scientific Reports.

Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients

S. Borrego, G. Antiñolo, B. Luzón-Toro, 2012, PloS one.

Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system

S. Borrego, G. Antiñolo, R. Fernández, 2014, Genetics in Medicine.

Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain

S. Borrego, G. Antiñolo, R. Fernández, 2014, American Journal of Medical Genetics. Part A.

The single nucleotide variant rs2868371 associates with the risk of mortality in non-small cell lung cancer patients: A multicenter prospective validation.

J. L. Lopez Guerra, J. Cacicedo, J. Praena-Fernández, 2019, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

Prognostic value of the TGFβ1 rs4803455 single nucleotide polymorphism in small cell lung cancer

J. L. Lopez Guerra, Eleonor Rivin del Campo, E. R. del Campo, 2020, Tumori.

Association of single nucleotide polymorphisms at HSPB1 rs7459185 and TGFB1 rs11466353 with radiation esophagitis in lung cancer.

J. L. Lopez Guerra, J. C. Fernández de Bobadilla, J. Praena-Fernández, 2019, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease

S. Borrego, G. Antiñolo, R. Fernández, 2016, Scientific Reports.

Overexpression of Canonical Prefoldin Associates with the Risk of Mortality and Metastasis in Non-Small Cell Lung Cancer

S. Chávez, X. Peñate, L. Payán-Bravo, 2020, Cancers.

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease

Joaquín Dopazo, Ignacio Medina, David Montaner, 2012, Orphanet Journal of Rare Diseases.

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

S. Borrego, G. Antiñolo, R. Fernández, 2011, BMC Medical Genetics.