Deep intronic mutation in OFD1 , identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

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Oxford University Press

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B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

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Oxford University Press

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Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa

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John Wiley & Sons Inc

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Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2

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Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

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