Gabriela M. Repetto

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)

Carol J. Gallione, Gabriela M. Repetto, Eric Legius et al. · The Lancet · 2004 · 743 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Direct Gene Transfer into Nonhuman Primate Myofibers <i>In Vivo</i>

Shoushu Jiao, Phillip Williams, R. Berg et al. · Human Gene Therapy · 1992 · 284 citations

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Hanan E. Shamseldin, Muneera Alshammari, Tarfa Al‐Sheddi et al. · Journal of Medical Genetics · 2012 · 180 citations

Genetic structure characterization of Chileans reflects historical immigration patterns

S. Eyheramendy, Felipe I. Martínez, Federico Manevy et al. · Nature Communications · 2015 · 143 citations · Full text