Gaël Nicolas

Elle doit avoir pleins d’histoires à raconter à @Metabrouteur !

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…

@DPruss6 Sorry I thought I was replying to another tweet on another topic :) My mistake You can refer to the abstract on the ESHG website where the variant is cited

@GJRNicolas But you wrote, "a pathogenic variant ", and from other discussions I understand that it was a missense VUS until Edwige concluded that it was pathogenic?

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

@DPruss6 Multiple different missense variants all along the coding sequence (and a few truncating)

@GJRNicolas which specific variant was it?

@AdrianoAguzzi Not that easy as it can be quite tricky to measure Abeta, depending on the cell lines, but most likely possible. May Abeta secretion or other APP fragments work as cellular phenotypes? Alternatively, enlarged endosomes?

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.

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

@OlivierQuenez presenting the results of our rare CNV exome study from the ADES consortium, exciting results! From neurodev to Alzheimer’s… More to come in the updated version of the preprint #eshg2025

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!!!

@OlivierQuenez @AmandineSa15417 And also adding @francois_leco presenting his work from his current postdoc on poison exons in the genome

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

🌟 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

@francois_leco Massive congrats @francois_leco It has been such a pleasure! And… what a defense! Waw Enjoy your stay in Oxford!

Happy to share that I successfully defended my PhD yesterday on the timing of de novo mutations in the germline. Immense gratitude to my fantastic jury and a huge thank you to my PI @GJRNicolas for the guidance. Next up: a one-year research mobility at Oxford in just a few days!

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

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

@FraMagrinelli @UCLIoN_DCMN @MDC_IoN_UCL @UCLIoN @UCLBrainScience @kailashbhatia Thank you for the invitation, I was honored to present on brain calcification in such a historical place with such an expert audience. Thank you for the very interesting discussions!

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 🔁

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…