Carlos Murga‐Zamalloa

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

Medicine, Molecular Biology, Molecular Genetics +8

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 · 268 citations

Medicine, Genetics, Ophthalmology +14

High-Frequency Targetable <i>EGFR</i> Mutations in Sinonasal Squamous Cell Carcinomas Arising from Inverted Sinonasal Papilloma

Aaron M. Udager, Delphine Rolland, Jonathan B. McHugh et al. · Cancer Research · 2015 · 143 citations · Full text

Medicine, Molecular Genetics, Oncology +17

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome

Na Luo, Callah West, Carlos Murga‐Zamalloa et al. · Human Molecular Genetics · 2012 · 119 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

John F. O’Toole, Yangjian Liu, Erica E. Davis et al. · Journal of Clinical Investigation · 2010 · 118 citations · Full text

Medicine, Genetics, Molecular Genetics +16