Alejandro Estrada‐Cuzcano

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Edgar A. Otto, Toby W. Hurd, Rannar Airik et al. · Nature Genetics · 2010 · 318 citations · Full text

Ocular Disease, Retina, Ophthalmology +6

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa et al. · Nature Genetics · 2009 · 267 citations · Full text

Ocular Disease, Common Allele, Retina +7

Loss-of-function mutations in the<i>ATP13A2/</i>PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Alejandro Estrada‐Cuzcano, Shaun Martin, Teodora Chamova et al. · Brain · 2016 · 162 citations · Full text

Progressive Spasticity, Neurodegenerative Diseases, Mendelian Disorder +11

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

Alejandro Estrada‐Cuzcano, Robert K. Koenekoop, Audrey Sénéćhal et al. · Archives of Ophthalmology · 2012 · 125 citations

<i>IQCB1</i>Mutations in Patients with Leber Congenital Amaurosis

Alejandro Estrada‐Cuzcano, Robert K. Koenekoop, Frauke Coppieters et al. · Investigative Ophthalmology & Visual Science · 2010 · 113 citations · Full text