Concepedia

Irma López

IL

Statistics

Publications

47

Citations

5.3K

H-Index

37

Active since

1961

Affiliations

McGill University Health Centre(Current)

Radboud University Nijmegen

Radboud University Medical Center

Montreal Children's Hospital

Baylor College of Medicine

Irma López is an author at McGill University Health Centre specializing in genetics, molecular genetics, and medical genetics.

Publications per year

1961–2026

47

Publications

47

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 · 676 citations · Full text

, , +4

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 · 391 citations · Full text

, , +16

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

, , +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

, , +14

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 · 245 citations · Full text

, , +13

1–5 of 47