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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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This is amazing! Intersecting Neuroscience and machine learning algorithms. Tapping Into the Brain to Help a Paralyzed Man Speak nytimes.com/2021/07/14/healt…
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Great work by our lab team in conducting RNA transcriptional analysis to decipher potential effects of DNA variants. This aids in more effective DNA variant interpretation for the patients. @sabahkadri @NUFeinbergMed @LurieChildrens
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…
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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…
It’s time to do our part and go green! youtu.be/1oVrIHcdxjA
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the incessant rain is reminding me of home