#GenomicDisorders - Twitter Hashtag

over 2 years ago

Celebrating Jim Lupski @LupskiLab at #GRD24 in a wonderful talk from @EichlerEE teaching us the importance of polymorphic inversions to #genomicdisorders and #rarediseases @GREGoR_research

CMBCarvalho's tweet photo. Celebrating Jim Lupski @LupskiLab at #GRD24 in a wonderful talk from @EichlerEE teaching us the importance of polymorphic inversions to #genomicdisorders and #rarediseases @GREGoR_research https://t.co/ii8dYN5S9j

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Javier Santoyo @jsantoyo

over 4 years ago

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders. #RareGenomicsVariants #GenomicDisorders #RNAsplicingVariants #VariantsPrioritization #Benchmarking https://t.co/YEBo3fxk1K @SciReports

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Claudia Gonzaga-Jauregui @cgonzagaj

about 5 years ago

Chapter3 in collaboration with Dr. @CinthyaZepeda focuses on #GenomicDisorders first defined by @LupskiLab what they are, the technologies used to identify & study them & their mechanisms, and their role in the diagnosis of patients living with #RareDisease (5/n)

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CHOP Research @CHOP_Research

over 6 years ago

Did you know some rare #genomicdisorders are linked to psychiatric conditions? @ChildrensPhila is joining 13 other institutions to study why. Read more about the new Genome to Mental Health consortium. https://t.co/ywUYABzHII

CHOP_Research's tweet photo. Did you know some rare #genomicdisorders are linked to psychiatric conditions? @ChildrensPhila is joining 13 other institutions to study why. Read more about the new Genome to Mental Health consortium. https://t.co/ywUYABzHII https://t.co/j09jLTCQLV

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Santhosh Girirajan @girirajan16

almost 8 years ago

Nice talk by @Wei_Hsian_Huang on reversing transcriptional and behavioral deficits in a mouse model of Smith-Magenis syndrome #RareDisease #genomicdisorders #CNVs

girirajan16's tweet photo. Nice talk by @Wei_Hsian_Huang on reversing transcriptional and behavioral deficits in a mouse model of Smith-Magenis syndrome #RareDisease #genomicdisorders #CNVs https://t.co/m3NdsPrK11

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Jennyffer Morales @JennMorales_Z

about 8 years ago

At the #RareontheRoad Rare Disease Leadership Tour learning about legislative participation and advocacy. Learning how to be the best advocate for our son. @eduzamor #rarelife #wagrsyndrome #momlife #genomicdisorders

JennMorales_Z's tweet photo. At the #RareontheRoad Rare Disease Leadership Tour learning about legislative participation and advocacy. Learning how to be the best advocate for our son. @eduzamor #rarelife #wagrsyndrome #momlife #genomicdisorders https://t.co/seE9U7IEMD

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