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Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period

Author(s): Ridge Perry G | Miller Christine | Bayrak-Toydemir Pinar | Best D Hunter | Mao Rong | Swensen Jeffrey J | Lyon Elaine | Voelkerding Karl V
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

Author(s): Wooderchak-Donahue Whitney L | O’Fallon Brendan | Furtado Larissa V | Durtschi Jacob D | Plant Parker | Ridge Perry G | Rope Alan F | Yetman Angela T | Bayrak-Toydemir Pinar
Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

Author(s): Furtado Larissa | Wooderchak-Donahue Whitney | Rope Alan | Yetman Angela | Lewis Tracey | Plant Parker | Bayrak-Toydemir Pinar
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