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Natalie P. Thorne

4

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Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

2018 European Journal of Human Genetics
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A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

2017 European Journal of Human Genetics
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Cpipe: a shared variant detection pipeline designed for diagnostic settings

2015 Genome Medicine
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Normalization for two-color cDNA microarray data

2003
- Yee Hwa Yang
- Natalie P. Thorne
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Citations (124)