Associated Papers
Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.
Galieva A et al.
International Journal of Molecular Sciences, 2025
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
XAF1 as a modifier of p53 function and cancer susceptibility.
Pinto EM et al.
Science Advances, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.
Jonsson F et al.
European Journal of Human Genetics : Ejhg, 2013
Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.
Verma A et al.
Plos One, 2013
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
Tan MH et al.
Plos One, 2012
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
Li L et al.
Plos One, 2011
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].
Preising MN et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2007
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 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
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
Sohocki MM et al.
Nature Genetics, 2000