Twitter Beğeni Hilesi

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad_v4 #ASHG23 (1/11)

Nadhir YOUSFI presenting the high potential of using Nanopore DNA sequencing for Adult TMA fast diagnosis. 🧬 Laurent MESNARD Oxford Nanopore

See our correspondance on Wu et al's excellent study Genetics in Medicine High value of real-world data to study the long-term impact of #exome seq. in adults w/ CKD of unknown origin => Ongoing work Laurent MESNARD SINRA-Soins Intensifs Néphrologiques et Rein Aigu, w/ support of Sorbonne Université AP-HP authors.elsevier.com/c/1i4nT3vlFV0S…

Monoallelic Loss of Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype buff.ly/3MwkWgm Alice Doreille Khalil El Karoui Anne-Sophie LEBRE Laurent MESNARD

L’ensemble des groupes de travail planche sur le futur plan qui sera à la fois pratique et ambitieux. Nous allons renforcer l’organisation, optimiser la formation, améliorer les bases de données, accélérer sur le diagnostic et faciliter l’accès à l’innovation thérapeutique

Kidney Transplantation and AA Amyloidosis buff.ly/3QEYzHQ Sophie Georgin-Lavialle Yannis LOMBARDI moglie le quintrec Mickaël Bobot Mehdi Maanaoui Kevin Louis Tristan de Nattes Eric Thervet Mayet Valentin Kormann Raphaël Antoine Lanot Agnes Duveau Laurent MESNARD Marion Rabant Yosu LUQUE

Nous vous attendons lundi prochain avec Agnes Linglart, Inserm et Natacha Triou dans l’émission La Science, CQFD sur France Culture pour discuter science, médecine et Plan National Maladies Rares numéro 4. À lundi!

Hot Spot of Complement Factor I Rare Variant p.Ile357Met in Patients With Hemolytic Uremic Syndrome buff.ly/3wQYut3 Sophie Caillard julienzuber Moranne Olivier Laurent MESNARD

This letter describes a woman with recurrent episodes of acute kidney injury due to oxalate nephropathy after hair-straightening procedures and provides evidence that glyoxylic acid is responsible. Read the full correspondence: nej.md/4agImPW

Nous recherchons interne-FFI ou DFMSA et assistants à la Pitié-Salpêtrière à partir de Mai 2024 dans le service de Nephrologie-Transplantation Rénale de la Pitié-Salpêtrière (Pr Hélène François) Plus d’infos en DM !

Seeking input on plasma exchange for pulmonary-renal syndrome through a quick 5-10 min bilingual survey with 2 case studies. redcap.link/3dvcwiyc Let’s discuss #vasculitis #gfev Firn SFNDT EULAR @srlf ERA - European Renal Association Int Society of Nephrology

"With this project, Sorbonne Université becomes a visible force in AI." 👉 Gérard Biau , director of the Sorbonne Center for Artificial Intelligence, unveils the ambitions of PostGenAI@Paris, one of 9 new #AI clusters announced by the French President : sorbonne-universite.fr/en/news/postge…

Rapid nephrogenomics for thrombotic microangiopathies youtu.be/NCki0LF70yI?si… via YouTube

Excited to show our latest attempt at a clinically meaningful clinical cancer genome with rapid turn around (24 hours!) times using Oxford Nanopore sequencing technology for patients who need a rapid, whole genome assessment of their tumour and germline, offering them (1/n):

🧬 enfin l’installation du séquenceur #P2solo de Oxford Nanopore à l'Établissement français du sang Marseille avec sa tour informatique ultra performante pour bientôt révolutionner le séquençage rapide des MAT et des déficits immunitaires de l’enfant🌟 #Innovation Laurent MESNARD Filière ORKiD Stéphane Burtey

Happy about this tripleX: Title page and editorial on our kidney paper in BLOOD (journal) about gasdermin D in renal TMA CRC TRR332 #neutrophil biology Free link: authors.elsevier.com/a/1jS42_9T5u7hK Editorial: ashpublications.org/blood/article/…

📢 New research underscores the critical role of pangenomic sequencing in patients with High-Risk APOL1 Genotypes for screening a Mendelian kidney disease. —>It highlights the importance of keeping an open mind. kireports.org/article/S2468-… #KidneyDisease #APOL1 Laurent MESNARD

Check out our last work on rapid genomic for TMA management in less than 3 days in Blood journal! Oxford Nanopore Blood Journal Sorbonne Université #SCAI SINRA-Soins Intensifs Néphrologiques et Rein Aigu #aHUs #CNRMAT MaRIH AP-HP ashpublications.org/blood/article-…

Huge applause to Veronique Fremeaux-Bacchi for receiving the medal for being an Outstanding Complementologist, from the European Complement Network 🏅🌹👏 It was so emotional to present a laudation to my mentor and friend. Centre de Recherche des Cordeliers #complementbiology #EMCHD2024

Hair-straightening cosmetics containing glyoxylic acid induce crystalline nephropathy doi.org/10.1016/j.kint… thomas robert AP-HP Inserm #acutekidneyinjury #AKI