Gaël Nicolas
@GJRNicolas
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Neurogeneticist. Inserm U1245 Cancer & Brain Genomics, CHU Rouen, Université de Rouen Normandie, National Reference Center for Young Alzheimer Patients (CNRMAJ)
Rouen, France
Joined March 2019
Elle doit avoir pleins d’histoires à raconter à @Metabrouteur !
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Votre conseillère se moque littéralement de moi en m’accusant d’envoyer des MMS depuis l’étranger, aucun moyen d’envoyer de preuve de son erreur et du bug dans votre système… et elle s’obstine à me dire que ce n’est pas du spam…
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Warm congrats to @AmandineSa15417 who presented on behalf of an international collaboration led by the great @ChristelDepienn, 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
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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
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And now, @francois_leco 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!!!
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@OlivierQuenez @AmandineSa15417 And also adding @francois_leco presenting his work from his current postdoc on poison exons in the genome
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Also glad to be starting the series of Rouen CBG oral communications at #eshg2025! @OlivierQuenez on CNVs in AD @AmandineSa15417 on RNUs un developmental diseases Edwige Kasper on TP53 pathogenic variant transmission Camille Charbonnier on episignatures
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I am so proud of managing this wonderful team of clinicians, data scientists, and cell biology experts allowing a multidisciplinary view of the contribution of SORL1 variants to Alzheimer disease risk.
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I was happy to present the results of our CBG team at the #eshg2025 on the classification of SORL1 missense variants as part of the oligogenic determinism of Alzheimer Disease.
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🌟 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
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Lovely Basal Ganglia Club Meeting on Primary Familial Brain Calcification with lectures by @GJRNicolas and @VioricaChelban. The @MDC_IoN_UCL and @UCLIoN are on the front line of care and research for patients with brain calcifications. @kailashbhatia @amitbatla @FahrBeyond
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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 🧵 https://t.co/uCjD4WSWUD
medrxiv.org
Variants in RNU4-2 , encoding the small nuclear RNA (snRNA) U4, were recently identified as a major cause of neurodevelopmental disorders (ReNU syndrome). Here, we investigated de novo variants in 50...
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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. @UCLIoN_DCMN
@MDC_IoN_UCL
@UCLIoN
@UCLBrainScience
@kailashbhatia Please RT 🔁
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À l’unité @Inserm 1245, le Pr Gaël Nicolas (@GJRNicolas), 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 👇 https://t.co/aTZQjSFMJD
ouest-france.fr
La Journée mondiale Alzheimer se tient tous les 21 septembre. Des chercheurs normands travaillent sur des tests pour « identifier qui est à risque élevé de développer cette maladie ». Il faudra être...
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(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
Nature - The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′...
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🚀🧬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 @GJRNicolas
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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 @ManonQuilan ! Ready for the PhD defense ;) 💪 @univrouen @InsermNordOuest
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Edwige Kasper from @CHURouen @InsermNordOuest @univrouen presenting on TP53 variants: two different clinical entities? Classical LFS vs TP53-related early onset breast cancer 👏 #eshg2024
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