Alexander Dingemans talks on PhenoScore, an AI tool integrating facial photos & HPO terms to give you a score on how similar patients are. PhenoScore is #OpenSource. Open for collab, contact Alex. medRxiv uploaded 2 days ago 👇 #ASHG22 medrxiv.org/content/10.110…

#ashg2022 Learnt about the importance of non-coding variation in Lynch syndrome from work of itepaske Richarda de Voer. Let’s leverage this knowledge to other rare diseases! Solve-RD gastrojournal.org/article/S0016-…

Supertrots op Milou Kennis die ons onderzoek over genetische oorzaken van #TOS presenteert bij de Jansoniuslezing van het TOS fonds! 🧬🔥 #radboudumc Klinische Genetica Radboud Fonds

Let’s get this show on the road! NVHG

Lex Dingemans Hall 5 #ESHG2023 PhenomAD NDD - defines baseline prevalence of clinical features in NDD - allows enrichment scores

Patient registry built by caregiver-driven data collection facilitates global recruitment and centralization of clinical data - an exemplary study by GenIDA #NDD #KdVS #KANSL1 #patientregistry #GIMOpen bit.ly/44dk0na

A great collaborative project to gain insight into the cause of #HCFP. Congrats to @Engle_lab Bryn Webb @alexdigiox for leading this work. And thank you for allowing us to contribute; Proud to be part of this! ElkedB Hans van Bokhoven Solve-RD Radboudumc Human Genetics Nijmegen, Radboudumc

📣 So extremely proud of our latest #research by Lex Dingemans, published online today Nature Genetics, reporting on the use of #AI to help diagnose individuals with #raredisease. Read it here 👇 rdcu.be/diKmE Human Genetics Nijmegen, Radboudumc Radboudumc Radboudumc wetenschap

De erfelijke oorzaak van zeldzame ontwikkelingsstoornissen bij kinderen is vaak onbekend. Onderzoekers van het Radboudumc brengen daar nu verandering in door het ontwikkelen van een computermodel op basis van gezichtsherkenning. Meer weten? 👇 bit.ly/440QBvW

Radboudumc ontwikkelt model dat via gezichtsherkenning diagnose kan stellen dlvr.it/StLxtZ

Vanavond vertelt Lex Dingemans, promovendus en klinisch geneticus in opleiding, over een algoritme dat zeldzame ontwikkelingsstoornissen herkent bij kinderen. Meer weten? Kijk... 📺 @rtlnieuws 19:30 📺 @nos 20:00 Lex Dingemans Lisenka Vissers

Fascinating talk about AI use in Clinical Genetics including training neural networks and PhenoScore from Lex Dingemans, Nijmegen #CGSCGG2024 UK Clinical Genetics

A mind-blowing discovery of a noncoding region in the human genome that might be holding the answer that 1000s of parents around the world with a child with a neurodevelopmental disorder (NDD) have been patiently waiting for years. A recurrent de novo noncoding single base pair

📣 extremely proud of Lex Dingemans from Human Genetics Nijmegen, Radboudumc Radboudumc and all our collaborators on our latest publication in Nature Medicine. Please read it here 👇 doi.org/10.1038/s41591…

And #undiagnosedhackathon2024 is a wrap! Yesterday morning, we started with a cohort of 42 unsolved cases. 48h later, collaborative efforts of >120 geneticists led to the identification of 10 🧬 novel diagnoses!!!

Of erfelijke aanleg een rol speelt bij kinderen met een ontwikkelingsstoornis blijft vaak onduidelijk. Lex Dingemans van het Radboudumc toont aan dat AI deze onzekerheid kan wegnemen. Hij verdedigt vandaag zijn proefschrift. Meer weten? ⤵️ t.ly/tZIjD

We’re so thankful for the 120+ people worldwide who participated in the #UndiagnosedHackathon2024. Wilhelm Foundation launched this event to help solve undiagnosed #RareDisease through collaboration & accelerated patient-centered problem-solving. More: undiagnosedhackathon.org

Registration is now open for our Curating the Clinical Genome Conference! #CCG2025 🗓️Dates: 11 - 13 June 2025 If you are interested in shaping best practices for the clinical use of #GenomicsData, then this is the conference for you! 🧬 📎Find out more: bit.ly/4fb77QI