Irma López
Montreal Children's Hospital(CA)McGill University Health Centre(CA)McGill Genome Centre(CA)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Genetic and Kidney Cyst Diseases, Connexins and lens biology, Glaucoma and retinal disorders
Most-Cited Works
- → Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis(2006)674 cited
- → Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling(2012)391 cited
- → Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy(2010)318 cited
- → A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies(2009)267 cited
- → PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome(2010)244 cited
- → Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements(2013)237 cited
- → Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia