
Eagles Autism Challenge Fundraiser! fundraisers.hakuapp.com/dana-layo-carr…
Elizabeth Bhoj, MD PhD
66 posts

@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!

Eagles Autism Challenge Fundraiser! fundraisers.hakuapp.com/dana-layo-carr…

We’re excited to support 16 interdisciplinary teams as part of our second phase of @ChanZuckerberg’s #NDChallengeNetwork Collaborative Pairs to help us better understand the fundamental biology of neurodegenerative diseases like Parkinson’s czi.co/3DRFufb





















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

Between seeing patients with rare #geneticdisorders to running a full spectrum of research projects in her lab, Dr. Bhoj finds time to mentor research trainees, passing along guidance that shaped her career. Meet our February Faculty Spotlight scientist! research.chop.edu/cornerstone-bl…



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