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Laboratory Geneticist specializing in the diagnosis of pediatric disorders. Director of Molecular Diagnostics @LurieChildrens @NUFeinbergMed | tweets are my own

Chicago, IL
Joined August 2008
Photo by Kai Lee Yap (@Yapple)Photo by Kai Lee Yap (@Yapple)
Kai Lee Yap retweeted
Amazing week #ACMGMtg23 - awards and presentations by Lurie Children’s Genetics Division! @TheACMG @LurieChildrens
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In @molcasestud Ing et al present a patient w/classical features of PCD, compound heterozygous variants in DNAH11 gene ID'd from WES & transcriptional analysis was performed to characterize the impact of the variants @LurieChildrens #PrecisionMedicine molecularcasestudies.cshlp.o…