I. López
California University of Pennsylvania(US)
Publications by Year
Research Areas
Retinal Development and Disorders, Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Glaucoma and retinal disorders, Ocular Diseases and Behçet’s Syndrome
Most-Cited Works
- → FRAXE and mental retardation.(1995)135 cited
- → Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness(2015)94 cited
- → WDR19 : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome(2013)71 cited
- → GPR98 mutations cause Usher syndrome type 2 in males(2009)42 cited
- → A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis(2018)39 cited
- → Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects(2006)39 cited
- → FRAXE mutation analysis in three spanish families(1996)26 cited
- → De novo interstitial tandem duplication of chromosome 4(q21-q28)(1996)19 cited
- → Rapp–Hodgkin syndrome and SHFM1 patients: Delineating the p63–Dlx5/Dlx6 pathway(2012)18 cited
- → Partial Mole with a Diploid Fetus: Case Study and Literature Review(2009)17 cited