#OnlineFirst: AXIN1 mutations in nonsyndromic craniosynostosis. https://t.co/U9Jk5zsvd1

🚨🧬 New #craniosynostosis disease gene alert! 🧬🚨 A recent article in @GIMJournal by @becky_tooze, @educalpena, and @srftwigg from the Wilkie group supports a role for PRRX1 in cranial suture development, and finds haploinsufficiency can cause craniosynostosis. (1/10)

A new study published in @AJHGNews identified several craniosynostosis-associated genes. This research, on the most common congenital cranial anomaly, has major implications for genetic testing & counseling: https://t.co/lYwWAxS7Vl

🚨 ONLINE @AJHGNews 📰 De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis 🧑‍🤝‍🧑 @md_timberlake @kahlelab & colleagues 👇 https://t.co/ki6hEyo5pC

Never let academia get in the way of your science.

.@EricTopol discusses the exciting advances in more cost-efficient timely clinical while genome sequencing. Uniquely, the technology is benefitting neonates/children more than adults currently https://t.co/fuHDlOnBFv @SubstackInc

By studying mice, researchers in @SciSignal found that the transcription factors Yap and Taz skew the fates of neural crest cells towards osteoblasts and away from chondrocytes by promoting osteogenic genes and repressing chondrogenic genes. https://t.co/fUIqYW7V2Z

Pathogenic variants in FOXI3, a regulator of ectodermal & neural crest development, the second most common #genetic cause of craniofacial microsomia @dquiat @md_timberlake https://t.co/4mGwo1dcJl

Excited (and a bit nervous 😅) to give a seminar tomorrow at 4 pm to the home crowd @broadinstitute and @ChemistryMIT. Zoom link: https://t.co/niiukDugoi

Excited to share results from a collaboration with @md_timberlake and many others to study genetic basis of craniofacial microsomia #CFM and #microtia in @GIMJournal. A thread 👇 https://t.co/m3CcoDtQwB

This morning, Svante Pääbo was awarded the #NobelPrize in medicine. The Swedish geneticist has made stunning discoveries about our forebear species by analysing ancient DNA

Dogs are actually a remarkable species to study genomics and genetics! Their phenotypes are diverse, yet they are all one species. Their breeding is often precise and controlled, which makes genetics and genomics easier. Basically, dogs are perfect. #AskDrGenome

https://t.co/jO2T2u3P3O

Congrats to my fellow Lifton lab alums ⁦@md_timberlake⁩ and ⁦@PETERJIN999 and current⁩ ⁦⁦@kahlelab⁩ student Emre Kiziltug on lambdoid CS gene discovery! ⁦@RockefellerUniv⁩ ⁦⁦⁦⁦@MGHNeurosurg⁩ ⁦@YNeurosurgery⁩

From extraordinary work in ~1 million people, "the gene dose makes the disease." An in-depth study of copy number variants https://t.co/Dbtxm7X5QC @girirajan16 @CellCellPress https://t.co/8dqj9N49dk by @RyanLCollins13 @broadinstitute @julirsch @TalkowskiLab

‼️#PRSJournalClub Facebook Q&A starts RIGHT NOW! Join authors Drs. Janes, Taub, and Gosain, as they discuss, “Mentorship for Plastic Surgery Leaders” on the #PRSJournal's Facebook page! Join the discussion TODAY by clicking here👉: https://t.co/X8K8UtDlnB

Base editors hit the clinic! 👩‍⚕️👨‍⚕️🧬 “I cheer on the whole field because these are incredibly important steps in no longer being beholden to these misspellings in our DNA that collectively afflict hundreds of millions of people" -@davidrliu https://t.co/dRpCQBLSlU

In vivo somatic cell base editing and prime editing @ASGCTherapy @MolTherapy @davidrliu https://t.co/HWzl0nRTYa

My bit on Francis Collins' keynote #ASGCT22 today "Francis Collins Urges Gene Therapy Community to Scale Efforts to Tackle Rare Diseases" https://t.co/Ut0enROCAO via @GENbio

#NonsyndromicCraniosynostosis is one of the most common anomalies treated by #craniofacialsurgeons. This new study explores the possibility of GENETIC influence on neurodevelopment in nonsyndromic #craniosynostosis: https://t.co/1jFVS9owJl