Elizabeth Bhoj, MD PhD

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Elizabeth Bhoj, MD PhD

Elizabeth Bhoj, MD PhD

@EBhoj

Assistant Professor at UPenn and Children’s Hospital of Philadelphia in Pediatrics and Human Genetics - also a mom, voracious reader and consumer of chai!

Philadelphia, PA Присоединился Ekim 2018
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Jessica Chong
Jessica Chong@jxchong·
Tara Wenger: conventional clinical workflow would miss 42% of infants who received SeqFirst WGS diagnosis! 16 never considered for clinical genetics consult. “No consult” group disproportionally non-white. #ASHG22
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Elizabeth Bhoj, MD PhD
Elizabeth Bhoj, MD PhD@EBhoj·
I’m on a 890 days Spanish learning streak and can’t stop 🔥 Want to join me on Duolingo?
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Briana Christophers, PhD
Briana Christophers, PhD@BriChristophers·
The @A_P_S_A Virtual Summer Research Program story 2020 1️⃣undergrad + 7️⃣MD/DO-PhD trainees took 2️⃣ wks to plan a 4️⃣ wk virtual program for 156 URM undergrads bc 80% had program canceled bc COVID 2021 72% still doing research, 23% w VSRP mentor Full 📖 @ doi.org/10.1017/cts.20…
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CHOP Research
CHOP Research@CHOP_Research·
Congratulations to Drs. Elizabeth Bhoj and David Hill who each received a 2021 Individual Biomedical Research Award from The Hartwell Foundation, which provides early-stage funding for biomedical research that can benefit children. research.chop.edu/cornerstone-bl…
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biohub
biohub@biohub·
At today’s #NDChallengeNetwork panel, patients & clinicians spoke about the #neurodegenerative #RareDisease Multiple Sulfatase Deficiency (MSD). Read more about how researchers Rebecca + Elizabeth work to better understand MSD and other diseases ⤵️ czi.co/3uxa9Y1
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Michael Granovetter, MD PhD
Michael Granovetter, MD PhD@mgranovetter·
.@A_P_S_A's Virtual Summer Research Program pairs undergrads from backgrounds underrepresented in STEM with mentors to work on a virtual summer research project. Want to volunteer to mentor a student? Sign up here: physicianscientists.org/page/VSRP-2022 Please share with your labs/departments!
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James Fasham
James Fasham@JamesFasham·
😊Now in print 📖 Think of it for CHD/Myopia/frontonasal dysplasia - Make sure to echo and check for myopic retinopathy Thanks to @adam_jackson89 @EBhoj @GeneDx @ghoshonthemove @GW4_CAT @LupskiLab @poseypod @RDExeter @smbanka @zcoban #Cleft #RareDiseases #ResearchAtExeter
Genetics in Medicine@GIMJournal

HYAL2 variants: a new cause of syndromic cleft lip and palate bit.ly/3sFvAro #Cardiology #cleftpalate #Genetics

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LTBGS@Penn
LTBGS@Penn@LTBGS_Penn·
BEYOND #hyped to announce our next speaker for the Queer in STEMinar Series - Dr. Drivas!! @TDrivas is an MD/PhD and instructor of medicine for the division of translational medicine and human genetics here at Penn. DM us for the zoom link to join on Monday, March 14th @5pm
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Research Trainee Affairs at Penn Medicine
Research Trainee Affairs at Penn Medicine@RTAatPennMed·
Reminder 📍 The deadline to apply for the Post-Baccalaureate Research Education Program (PennPREP) is Tues., 3/1 by 11:59 pm EST. See here for more info: tinyurl.com/PennPREP
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Elizabeth Bhoj, MD PhD
Elizabeth Bhoj, MD PhD@EBhoj·
Our newest lab member - her first first-author paper was accepted before she even officially joined the lab! So excited to see where her thesis work takes her :)
Emily Lubin, PhD@EmilyLubin_

Thrilled to share my first first author project! We used #publiclyavailable #gnomAD constraint metrics and #GTEx expression data to predict 5 #histone-encoding disease candidate genes that have the potential to underly rare Mendelian conditions - rdcu.be/cFEdE

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