Lex Dingemans @ajmdingemans
Postdoc @radboudumc and @artcogsys || bridging AI and (clinical) genetics || Resident clinical genetics Joined November 2016-
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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
We’re so thankful for the 120+ people worldwide who participated in the #UndiagnosedHackathon2024. @WilhelmFound launched this event to help solve undiagnosed #RareDisease through collaboration & accelerated patient-centered problem-solving. More: undiagnosedhackathon.org
Of erfelijke aanleg een rol speelt bij kinderen met een ontwikkelingsstoornis blijft vaak onduidelijk. @ajmdingemans van het @radboudumc toont aan dat AI deze onzekerheid kan wegnemen. Hij verdedigt vandaag zijn proefschrift. Meer weten? ⤵️ t.ly/tZIjD
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!!!
📣 extremely proud of @ajmdingemans from @GeneticNijmegen @radboudumc and all our collaborators on our latest publication in @NatureMedicine. Please read it here 👇 doi.org/10.1038/s41591…
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…
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… https://t.co/ma79d6h47M
Fascinating talk about AI use in Clinical Genetics including training neural networks and PhenoScore from Lex Dingemans, Nijmegen #CGSCGG2024 @clingensoc
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 @ajmdingemans @LisenkaVissers
Radboudumc ontwikkelt model dat via gezichtsherkenning diagnose kan stellen dlvr.it/StLxtZ
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
📣 So extremely proud of our latest #research by @ajmdingemans, published online today @NatureGenet, reporting on the use of #AI to help diagnose individuals with #raredisease. Read it here 👇 rdcu.be/diKmE @GeneticNijmegen @radboudumc @radboudumc_weet
A great collaborative project to gain insight into the cause of #HCFP. Congrats to @Engle_Lab @brynwebbmd @AleXDiGiOX for leading this work. And thank you for allowing us to contribute; Proud to be part of this! @b_elked @BokhovenHans @Solve_RD @radboudumc @GeneticNijmegen
A great collaborative project to gain insight into the cause of #HCFP. Congrats to @Engle_Lab @brynwebbmd @AleXDiGiOX for leading this work. And thank you for allowing us to contribute; Proud to be part of this! @b_elked @BokhovenHans @Solve_RD @radboudumc @GeneticNijmegen
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
@ajmdingemans Hall 5 #ESHG2023 PhenomAD NDD - defines baseline prevalence of clinical features in NDD - allows enrichment scores
Let’s get this show on the road! @NAV_NVHG
Supertrots op Milou Kennis die ons onderzoek over genetische oorzaken van #TOS presenteert bij de Jansoniuslezing van het TOS fonds! 🧬🔥 #radboudumc @erfelijkheid @Radboudfonds
#ashg2022 Learnt about the importance of non-coding variation in Lynch syndrome from work of @itepaske1 @RMdeVoer. Let’s leverage this knowledge to other rare diseases! @Solve_RD gastrojournal.org/article/S0016-…
Alexander Dingemans talks on PhenoScore, an AI tool integrating facial photos & @hp_ontology terms to give you a score on how similar patients are. PhenoScore is #OpenSource. Open for collab, contact Alex. @medrxivpreprint uploaded 2 days ago 👇 #ASHG22 medrxiv.org/content/10.110…
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