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

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

(2017) Edwin M. Stone et al.   OPHTHALMOLOGY

Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity

(2016) Abulikemu Tajiguli et al.   Scientific Reports

Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

(2015) Mohammed E. El-Asrag et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KIF11mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy

(2015) Huan Hu et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A

(2015) A M Rose et al.   EYE

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

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

(2014) Susanne Roosing et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital microcephaly and chorioretinopathy due to de novo heterozygousKIF11mutations: Five novel mutations and review of the literature

(2014) Ghayda M. Mirzaa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy

(2014) Bodo B. Beck et al.   HUMAN MUTATION

Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

(2014) Stephen H. Tsang et al.   OPHTHALMOLOGY

Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa

(2014) Giulia Venturini et al.   PLoS One

Novel Recessive Cone-Rod Dystrophy Caused byPOC1BMutation

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

Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused byKIF11Mutations

(2014) Johane M. Robitaille et al.   JAMA Ophthalmology

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

(2013) Gabriela E Jones et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

(2013) Nicola Glöckle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

(2013) Xia Wang et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial Retinal Dystrophy Associated with the m.3243A>G Mutation

(2013) Paul de Laat et al.   OPHTHALMOLOGY

Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

(2013) Rosa Riveiro-Alvarez et al.   OPHTHALMOLOGY

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

(2013) Marta Corton et al.   Orphanet Journal of Rare Diseases

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

(2013) Li Huang et al.   PLoS One

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

(2013) Tobias Eisenberger et al.   PLoS One

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

(2012) Pia Ostergaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

(2012) Morag E Shanks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

(2012) James O'Sullivan et al.   JOURNAL OF MEDICAL GENETICS

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

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

Alagille syndrome: pathogenesis, diagnosis and management

(2011) Peter D Turnpenny et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

(2010) Dikla Bandah-Rozenfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

(2010) Thomas Langmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1

(2010) R. H. Henderson et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene

(2009) P Charbel Issa et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

(2009) Stephanie L Bielas et al.   NATURE GENETICS

Nephronophthisis

(2008) Roslyn J Simms et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

(2008) Veronique B D Kitiratschky et al.   EUROPEAN JOURNAL OF HUMAN GENETICS