- Guo T, Repetto GM, McDonald-McGinn D Chung J….Morrow BE, on behalf of the International 22q11.2 Consortium/Brain and Behavior Consortium. Genome-wide association study to find modifiers for tetralogy of Fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3. Circ Cardiovasc Genet. 2017;10:e. DOI:10.1161/CIRCGENETICS.116.001690
- Leon LE, Benavides F, Espinoza K, Vial C, Alvarez P, Palomares M, Lay-Son G, Miranda M, Repetto GM. Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in Chilean patients with 22q11.2DS. Scientific Reports (2017) ;7: 1795 DOI:10.1038/s41598-017-01896-w
- Eyheramendy S, Martinez FI, Manevy F, Vial C, Repetto GM. Genetic structure characterization of Chileans reflects historical immigration patterns. Nature Communications 6, Article number: 6472 doi:10.1038/ncomms7472
- Cruces P, Diaz F, Puga A, Erranz B, Donoso A, Carvajal C, Wilhelm J, Repetto GM. Angiotensin-converting enzyme insertion/deletion polymorphism is associated with severe hypoxemia in pediatric ARDS. Intensive Care Med. 2012 Jan;38(1):113-9.
- Shamseldin H; Al-Shammari M; Alsheddi T; Salih M; Alkhaldi H; Kentab A; Repetto GM; Hashem M; Alkuraya F. Genomic Analysis of Mitochondrial Diseases in a Consanguineous Population Reveals Novel Disease Genes. J Med Genet. 2012 Apr;49(4):234-41
- Lay-Son G, Puga A, Astudillo P, Repetto GM; Collaborative Group of the Chilean National Cystic Fibrosis Program. Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations. J Cyst Fibros. 2011 Jan;10(1): 66-70
- Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE. Later-onset Congenital Central Hypoventilation Syndrome Due to a Heterozygous 24-Polyalanine Repeat Expansion Mutation in the PHOX2B Gene. Acta Paediatrica 2009; 98(1):192-5.
- Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004; 363(9412):852-9.
Listado completo de publicaciones en Google Scholar
