Salud Borrego

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Maite Calucho, Sara Bernal, Laura Alías et al. · Neuromuscular Disorders · 2018 · 506 citations

Life Sciences, Genetics, Human Genetics +13

<i>MAX</i> Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Nelly Burnichon, Alberto Cascón, Francesca Schiavi et al. · Clinical Cancer Research · 2012 · 327 citations · Full text

Life Sciences, Genetics, Oncology +14

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

E Emison, Mercè Garcia-Barceló, Elizabeth A. Grice et al. · The American Journal of Human Genetics · 2010 · 244 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Mai M. Abd El-Aziz, Isabel Barragán, C. O'Driscoll et al. · Nature Genetics · 2008 · 214 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Laura Alías, Sara Bernal, Pablo Fuentes‐Prior et al. · Human Genetics · 2008 · 169 citations

Life Sciences, Genetics, Molecular Genetics +13