LupskiLab
@LupskiLab
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Joined April 2019
Next PNRI #ScienceMatters 10/12 at noon PT features Jim Lupski @LupskiLab @BCMFromtheLabs @BCM_HGSC As always, registration is free! Check here.
Don’t miss our next Science Matters seminar: Biology in Balance: Human Diploid Genome Integrity, Gene Dosage & Genomic Medicine w/ Dr. James Lupski from @Baylor College of Medicine Wed. 10/12 at noon PDT. You can find details and free registration at: https://t.co/q5I0Tjae7K
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Fantastic new story from @Danamarafi, @LupskiLab, and BCM @GREGoR_research about a peripheral nerve hyperexcitability syndrome caused by loss of the juxtaparanodal protein LGI3 - facial myokymia, distal deformities and diminished reflexes, and DD/ID! https://t.co/3OXFOMWgkT
cell.com
Through the power of human paralog gene studies, worldwide family-based genomics analyses, and mouse studies, we define a potentially-recognizable peripheral hyperexcitability syndrome in 16 indivi...
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Great talks, scenery, and camaraderie at Cold Springs Harbor Lab’s Genome Stability & Integrity Symposium! #cshlsymp22
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Our new work in Robinow Syndrome has been just published. Great collaboration with Chaofan Zhang at the @LupskiLab and Juliana @jumazzeu lab in Brazil.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
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Our Annals of Neurology paper is online! Congrats to co-first author @isaherman85, @LupskiLab members, and all co-authors @redsquirrel001! #HSP #NDD #neurogenetics 🧵 https://t.co/crPh3npNyl
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Late post: Last Thursday we had a gathering of the @LupskiLab and friends. My first time seeing Jim since the panini's start. A good time was had by all.
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Postdocs! Interested in genomic #StructuralVariation? How about using cutting edge technology at @TXMedCenter to understand #HumanDisease? Join us in the @LupskiLab at @bcmhouston! Apply today 👉🏼 https://t.co/ZL7yNakogC
@bcmgenetics @GREGoR_research @BCMFromtheLabs
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