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New paper in AJHG investigating the phenotypic spectrum of dual diagnoses in developmental disorders - doubly unlucky patients with two independent genetic conditions. Lovely work from two Exeter Med School students, plus Kartik Chundru Helen Firth. doi.org/10.1016/j.ajhg…

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...and here is the full program for the day 👩🏽‍🔬

We are recruiting a postdoc! Have expertise in RNA biology and want to apply it to neuro and neurodev disorders? Then apply 👇🏼 📌 $73,588 💰 📌 access to postdoc housing 🏠 📌 Support for internationals 🌍 📌 Awesome view 😅 🙏 RT labs.icahn.mssm.edu/derubeislab/wp…

Great example of how undiagnosed diseases may find a diagnosis through multidisciplinary collaborations! -Nearly 100 expert from 28 countries -4/10 families finally obtained a diagnosis -4 novel candidate genes were identified #rarediseases

Congrats Antonietta Verrillo 🎉🎉

Very well deserved 🙌🙌 Congrats Jonas Van lent !

Let’s join our group! ✨⭐️

"Why does the brain need billions of neurons to process 10 bits/second? Why can we only think about one thing at a time?" by Jieyu Zheng and Markus Meister Caltech Neuron cell.com/neuron/fulltex…

❓How does a cell become malignant? 🌟Several tightly regulated factors are needed to lead the cell toward a state of ‘oncogenic competence’. 🔖In this Opinion, we highlight the most updated findings about the mechanisms behind oncogenic competence. ➡️authors.elsevier.com/c/1kW698Z12ybW…

We need to stop this never-ending history of not accessible papers. Science needs to be shared, and we should find a solution. How can a paper from *1993* still not being accessible?!! #OpenScience

Proud to be part of the Autism Sequencing Consortium, which keeps on contributing to the understanding of the genetics of neurodevelopmental disorders! Have a look to our recent work 👇

🧪 Training the next gen of scientists is now more important than ever! 👩🏽‍🔬🧑🏽‍🔬 🚨 PAID summer internship opportunities at our Seaver Autism Center for undergrads interested in #autism research 🔬 🧠 🧬 🙏 RT Cc: Georgia Panagiotakos labs.icahn.mssm.edu/derubeislab/wp…

🌟Finally out! 🧬One year ago we linked RPH3A gene to a #neurodevelopmental disorder. Now, Barzasi and team showed some variants we previously described are causing dysfunction of pre- and post- glutamatergic synapse! Have a look nature.com/articles/s4159…