Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy

CRX variants in cone–rod dystrophy and mutation overview

(2012) Li Huang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy

(2012) Alberta A.H.J. Thiadens 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

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

(2010) Anneke I. den Hollander et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

(2010) E. Ostergaard et al.   JOURNAL OF MEDICAL GENETICS

Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy

(2010) Alberta A.H.J. Thiadens et al.   OPHTHALMOLOGY

Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

(2009) Bozena Polok et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

(2009) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

(2009) Alberta A.H.J. Thiadens et al.   AMERICAN JOURNAL OF HUMAN GENETICS