Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.
Galieva A et al.
International Journal of Molecular Sciences, 2025
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Huang CH et al.
Genes, 2021
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Astuti GD et al.
European Journal of Human Genetics : Ejhg, 2016
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.
Hidalgo-de-Quintana J et al.
Plos One, 2015
Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.
Majumder A et al.
The Journal of Biological Chemistry, 2013
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.
Hidalgo-de-Quintana J et al.
Investigative Ophthalmology & Visual Science, 2008
Leber congenital amaurosis: genes, proteins and disease mechanisms.
den Hollander AI et al.
Progress in Retinal and Eye Research, 2008
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
Predominant rod photoreceptor degeneration in Leber congenital amaurosis.
van der Spuy J et al.
Molecular Vision, 2005
Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.
Ben-Arie-Weintrob Y et al.
Ophthalmic Genetics, 2005
An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.
Heegaard S et al.
The British Journal of Ophthalmology, 2003