Publications

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

Bocher O, Ludwig TE, Oglobinsky MS, Marenne G, Deleuze JF, Suryakant S, Odeberg J, Morange PE, Trégouët DA, Perdry H, Génin E.

PLoS Genet. 2022 Sep 16;18(9):e1009923. doi: 10.1371/journal.pgen.1009923. Online ahead of print.

APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis. 

Simon Stritt, Paquita Nurden, Alan T Nurden, Jean-François Schved, Jean-Claude Bordet, Maguelonne Roux, Marie-Christine Alessi, David-Alexandre Trégouët, Taija Mäkinen , Muriel Giansily-Blaizot

Haematologica 2022 May 31.
doi: 10.3324/haematol.2022.280816. Online ahead of print

Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.

de la Morena-Barrio ME, Suchon P, Jacobsen EM, Iversen N, Miñano A, de la Morena-Barrio B, Bravo-Perez C, Padilla J, Cifuentes R, Asenjo S, Deleuze JF, Trégouët DA, Lozano ML, Vicente V, Sandset PM, Morange PE, Corral J.

Blood. 2022 Apr 29:blood.202101470

 Small Open Reading Frames, How to Find Them and Determine Their Function.

Kute PM, Soukarieh O, Tjeldnes H, Trégouët DA, Valen E.

Front Genet. 2022 Jan 28;12:796060. doi: 10.3389/fgene.2021.796060. PMID: 35154250

Common and rare 5'UTR variants altering upstream Open Reading Frames in cardiovascular genomics.

Soukarieh O, Meguerditchian C, Proust C,Aïssi D, Eyries M, Goyenvalle A, Trégouët DA.

Front. Cardiovasc. Med., 21 March 2022

Explainable Artificial Neural Network for Recurrent Venous Thromboembolism Based on Plasma Proteomics.

Misbah Razzaq, rLouisa Goumidi, Maria-Jesus Iglesias, Gaëlle Munsch, Maria Bruzelius, Manal Ibrahim-Kosta, Lynn Butler, Jacob Odeberg, Pierre-Emmanuel Morange, David Alexandre Tregouet

In: Cinquemani E., Paulevé L. (eds) Computational Methods in Systems Biology. CMSB 2021. Lecture Notes in Computer Science, vol 12881. Springer, Cham. https://doi.org/10.1007/978-3-030-85633-5_7

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