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 · 754 citations

Life Sciences, Genetics, Molecular Genetics +11

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

Life Sciences, Biotechnology, Molecular Biology +17

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

Life Sciences, Genetics, Molecular Genetics +17

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 · 182 citations

Life Sciences, Genetics, Molecular Genetics +14

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

R. W. Davies, Ania Fiksinski, Elemi Breetvelt et al. · Nature Medicine · 2020 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17