F. Benavides

Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis

G. Repetto, L. León, M. Rozas, 2019, Orphanet Journal of Rare Diseases.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Lisa T. Emrick, Ivan K. Chinn, J. Rosenfeld, 2018, American journal of human genetics.

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

G. Repetto, C. Vial, L. León, 2017, Scientific Reports.

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

G. Repetto, C. Vial, I. Delgado, 2014, BMJ Open.

No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies.

G. Repetto, Mauricio Aspé-Sánchez, C. Rodríguez-Sickert, 2020, PloS one.

Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome

G. Repetto, F. Benavides, C. Pinochet, 2019, Journal of Pediatric Genetics.

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

G. Repetto, C. Vial, L. León, 2017, Scientific Reports.

Molecular diagnosis in patients with retinoblastoma: Report of a series of cases.

G. Repetto, V. Pérez, D. Ossandón, 2016, Archivos de la Sociedad Espanola de Oftalmologia.