Elena Aller

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

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Inga Ebermann, Hendrik P. N. Scholl, Peter Charbel Issa et al. · Human Genetics · 2006 · 233 citations

Life Sciences, Genetics, Molecular Genetics +11

An Update on the Genetics of Usher Syndrome

José M. Millán, Elena Aller, Teresa Jaijo et al. · Journal of Ophthalmology · 2010 · 222 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

Erwin van Wijk, Bert van der Zwaag, Theo Peters et al. · Human Molecular Genetics · 2006 · 190 citations

Life Sciences, Genetics, Neuroscience +17

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