Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Zernant J et al.
Plos Genetics, 2022
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z et al.
Experimental Eye Research, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Genetic modifiers and oligogenic inheritance.
Kousi M et al.
Cold Spring Harbor Perspectives in Medicine, 2015
Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.
Tran NM et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
Hull S et al.
Investigative Ophthalmology & Visual Science, 2014
Mechanistically distinct mouse models for CRX-associated retinopathy.
Tran NM et al.
Plos Genetics, 2014
CRX variants in cone-rod dystrophy and mutation overview.
Huang L et al.
Biochemical and Biophysical Research Communications, 2012
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Coppieters F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.
Nichols LL et al.
Human Mutation, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2005
Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.
Chen S et al.
Human Molecular Genetics, 2002
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
Rivolta C et al.
Human Mutation, 2001
Novel frameshift mutations in CRX associated with Leber congenital amaurosis.
Rivolta C et al.
Human Mutation, 2001
Functional domains of the cone-rod homeobox (CRX) transcription factor.
Chau KY et al.
The Journal of Biological Chemistry, 2000
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
Sohocki MM et al.
American Journal of Human Genetics, 1998
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.
Swain PK et al.
Neuron, 1997