Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

(2022) Annechien E G Haarman et al.   HUMAN MOLECULAR GENETICS

Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy

(2020) Jeeyun Ahn et al.   OPHTHALMIC GENETICS

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F ‐mediated inherited retinal disorders

(2019) Christina Zeitz et al.   HUMAN MUTATION

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

(2019) Elise Boulanger-Scemama et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

(2018) Johannes Birtel et al.   Scientific Reports

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

(2016) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

(2015) Susanne Kohl et al.   NATURE GENETICS

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

(2015) Elise Boulanger-Scemama et al.   Orphanet Journal of Rare Diseases

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

(2015) Christina Zeitz et al.   PROGRESS IN RETINAL AND EYE RESEARCH

NGS-based Molecular diagnosis of 105 eyeGENE® probands with Retinitis Pigmentosa

(2015) Zhongqi Ge et al.   Scientific Reports

Exome sequencing revealsADAM9mutations in a child with cone-rod dystrophy

(2014) Sarah Hull et al.   ACTA OPHTHALMOLOGICA

Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

(2014) Panagiotis I. Sergouniotis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms of blindness: Animal models provide insight into distinctCRX-associated retinopathies

(2014) Nicholas M. Tran et al.   DEVELOPMENTAL DYNAMICS

Novel Recessive Cone-Rod Dystrophy Caused byPOC1BMutation

(2014) Yusuf K. Durlu et al.   JAMA Ophthalmology

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

(2013) Susanne Roosing et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

(2013) Jan Hauke et al.   PLoS One

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

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

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

(2012) Alberta A.H.J. Thiadens et al.   OPHTHALMOLOGY

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

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

Loss of the Cholesterol-Binding Protein Prominin-1/CD133 Causes Disk Dysmorphogenesis and Photoreceptor Degeneration

(2009) S. Zacchigna et al.   JOURNAL OF NEUROSCIENCE

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

(2008) Zhenglin Yang et al.   JOURNAL OF CLINICAL INVESTIGATION