Publications

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sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data

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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

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Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

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Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

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An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX

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Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells

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UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing

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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

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