Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

(2012) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Phenotype-genotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome)

(2012) Arif O. Khan et al.   OPHTHALMIC GENETICS

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

(2011) Jianjun Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cerebrotendinous Xanthomatosis: A Treatable Disease With Juvenile Cataracts as a Presenting Sign

(2011) Dinelli M. Monson   ARCHIVES OF OPHTHALMOLOGY

Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations

(2011) Mohammed A. Aldahmesh et al.   GENETICS IN MEDICINE

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group

(2011) Guntram Borck et al.   HUMAN GENETICS

Mouse Knockout of the Cholesterogenic Cytochrome P450 Lanosterol 14α-Demethylase (Cyp51) Resembles Antley-Bixler Syndrome

(2011) Rok Keber et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular characteristics of inherited congenital cataracts

(2010) Bingyu Huang et al.   European Journal of Medical Genetics

Mutations of theEPHA2receptor tyrosine kinase gene cause autosomal dominant congenital cataract

(2009) Tianxiao Zhang et al.   HUMAN MUTATION

Congenital cataracts and their molecular genetics

(2007) J. Fielding Hejtmancik   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY