Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy

(2013) Li Huang et al.   NEUROSCIENCE LETTERS

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

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

(2011) Alejandro Estrada-Cuzcano et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

Mutations in theGUCA1Agene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase

(2009) Veronique B.D. Kitiratschky et al.   HUMAN MUTATION

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

SOAP: short oligonucleotide alignment program

(2008) R. Li et al.   BIOINFORMATICS