Irma López

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer et al. · The American Journal of Human Genetics · 2006 · 670 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +7

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Moumita Chaki, Rannar Airik, Amiya K. Ghosh et al. · Cell · 2012 · 390 citations · Full text

Genome Instability, Linking Renal Ciliopathies, Cep164 Mutations +6

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

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Inga Ebermann, Jennifer B. Phillips, Max C. Liebau et al. · Journal of Clinical Investigation · 2010 · 242 citations · Full text