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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

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Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

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Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

(2014) Frauke Coppieters et al.   GENETICS IN MEDICINE

Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

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Cytoplasmic carboxypeptidase 5 regulates tubulin glutamylation and zebrafish cilia formation and function

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Genetics and genomic medicine in Saudi Arabia

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Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

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Genes and mutations causing retinitis pigmentosa

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Cytosolic Carboxypeptidase 5 Removes α- and γ-Linked Glutamates from Tubulin

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

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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

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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

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Single-Cell Exome Sequencing and Monoclonal Evolution of a JAK2-Negative Myeloproliferative Neoplasm

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

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Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

(2012) Frauke Coppieters et al.   GENETICS IN MEDICINE

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

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

Next-generation genetic testing for retinitis pigmentosa

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Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

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The molecular basis of human retinal and vitreoretinal diseases

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Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype

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Protein structure prediction on the Web: a case study using the Phyre server

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