Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

(2012) Isabelle Perrault et al.   NATURE GENETICS

NMNAT1 mutations cause Leber congenital amaurosis

(2012) Marni J Falk et al.   NATURE GENETICS

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

(2012) Pei-Wen Chiang et al.   NATURE GENETICS

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

(2012) Robert K Koenekoop et al.   NATURE GENETICS

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

(2011) Panagiotis I. Sergouniotis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

(2011) Karsten Boldt et al.   JOURNAL OF CLINICAL INVESTIGATION

Retinal Structure, Function, and Molecular Pathologic Features in Gyrate Atrophy

(2011) Panagiotis I. Sergouniotis et al.   OPHTHALMOLOGY

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

(2011) Lin Li et al.   PLoS One

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

(2009) Hui Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Outer Retinal Tubulation

(2009) Sandrine A. Zweifel   ARCHIVES OF OPHTHALMOLOGY

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA