Edwige Kasper from CHU de Rouen Inserm Nord Ouest Université de Rouen Normandie presenting on TP53 variants: two different clinical entities? Classical LFS vs TP53-related early onset breast cancer 👏 #eshg2024

Assessing the effect of MSH2 variants on RNA splicing and protein effects: what is the minimal amount of MSH2 required for activity? #eshg2024 Nice talk Manon Quilan ! Ready for the PhD defense ;) 💪 Université de Rouen Normandie Inserm Nord Ouest

🚀🧬Our first long-read #HiFi human genomes have been sequenced in #Rouen, France! Blown away by the data quality and all-inclusive bioinformatics pipeline producing phased, methylation resolved data & a powerfull detection of all types of variants 🤯 PacBio Gaël Nicolas

(1/4) I’m delighted to announce that our research on RNU4-2 is now out on nature . This is an exciting finding that will bring many diagnoses worldwide. We have updated some new results since the preprint: nature.com/articles/s4158…

Depuis mars 2024, l’Université de Rouen s’est dotée d’un appareil ultra-sophistiqué qui pourrait bien, à l’avenir, permettre d’anticiper plus facilement des maladies. 76actu vous dévoile cette machine de pointe.

À l’unité Inserm 1245, le Pr Gaël Nicolas (Gaël Nicolas), lauréat du Prix Bettencourt pour les jeunes chercheurs, révolutionne la détection des risques génétiques d’Alzheimer, ouvrant la voie aux traitements préventifs. En savoir plus 👇 ouest-france.fr/sante/maladies…

Next Queen Square Basal Ganglia Club Meeting on Primary Brain Calcification - NHNN - October 9, 2024 - 4 pm. Speakers: Prof. Gael Nicolas & Dr Viorica Chelban. All welcome. Clinical and Movement Neurosciences @ UCL IoN MovementDisordersUCL UCL Queen Square Institute of Neurology UCL Brain Sciences Kailash Bhatia, Please RT 🔁

Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now online in MedRxiv. 1/12 🧵medrxiv.org/content/10.110…

Lovely Basal Ganglia Club Meeting on Primary Familial Brain Calcification with lectures by Gaël Nicolas and Viorica Chelban. The MovementDisordersUCL and UCL Queen Square Institute of Neurology are on the front line of care and research for patients with brain calcifications. Kailash Bhatia, Amit Batla FahrBeyond

Données, Omiques, Médecine de Précision et Empowerment! Ne loupez rien de la Conférence DOME qui se tiendra toute la journée #CongrèsSFMPP #IA #MédecineDePrécision

🌟 The PREVENTABLE Project is here to assess the clinical, social, and financial impact of multidisciplinary care in preventing advanced diseases in families with Rare Tumour Risk Syndromes (RTRS). 🌟 #OurImpact #PREVENTABLE #RTRS #RareTumorRiskSyndromes #RareDiseases

And now, François Lecoquierre from Oxford! Mapping intronic variants predicted to result in pseudo-exons. Great idea, massive amount of work, great resources, interesting novel insights into human genomics, and new diagnoses! Congrats!!!

What an intriguing story told by Edwige Kasper on the multiple transmission of a TP53 pathogenic variant following sperm donation. Congrats on your talk, Edwige! #eshg2025

Warm congrats to Amandine Santini who presented on behalf of an international collaboration led by the great Christel Depienne, on the major RNU4-2 small non coding RNA gene explaining 0.4% patients with a neurodev disorder and identification of at least 1 novel gene RNU5B-1