Publications

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

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation.

Josine L Min, Gibran Hemani, Eilis Hannon, Koen F Dekkers, Juan Castillo-Fernandez, René Luijk, Elena Carnero-Montoro, Daniel J Lawson, Kimberley Burrows, Matthew Suderman, Andrew D Bretherick, Tom G Richardson, Johanna Klughammer, Valentina Iotchkova, Gemma Sharp, Ahmad Al Khleifat, Aleksey Shatunov, Alfredo Iacoangeli, Wendy L McArdle, Karen M Ho, Ashish Kumar, Cilla Söderhäll, Carolina Soriano-Tárraga, Eva Giralt-Steinhauer, Nabila Kazmi, Dan Mason, Allan F McRae, David L Corcoran, Karen Sugden, Silva Kasela, Alexia Cardona, Felix R Day, Giovanni Cugliari, Clara Viberti, Simonetta Guarrera, Michael Lerro, Richa Gupta, Sailalitha Bollepalli, Pooja Mandaviya, Yanni Zeng, Toni-Kim Clarke, Rosie M Walker, Vanessa Schmoll, Darina Czamara, Carlos Ruiz-Arenas, Faisal I Rezwan, Riccardo E Marioni, Tian Lin, Yvonne Awaloff, Marine Germain, Dylan Aïssi, Ramona Zwamborn, Kristel van Eijk, Annelot Dekker, Jenny van Dongen, Jouke-Jan Hottenga, Gonneke Willemsen, Cheng-Jian Xu, Guillermo Barturen, Francesc Català-Moll, Martin Kerick, Carol Wang, Phillip Melton, Hannah R Elliott, Jean Shin, Manon Bernard, Idil Yet, Melissa Smart, Tyler Gorrie-Stone, BIOS Consortium; Chris Shaw, Ammar Al Chalabi, Susan M Ring, Göran Pershagen, Erik Melén, Jordi Jiménez-Conde, Jaume Roquer, Deborah A Lawlor, John Wright, Nicholas G Martin, Grant W Montgomery, Terrie E Moffitt, Richie Poulton, Tõnu Esko, Lili Milani, Andres Metspalu, John R B Perry, Ken K Ong, Nicholas J Wareham, Giuseppe Matullo, Carlotta Sacerdote, Salvatore Panico, Avshalom Caspi, Louise Arseneault, France Gagnon, Miina Ollikainen, Jaakko Kaprio, Janine F Felix, Fernando Rivadeneira, Henning Tiemeier, Marinus H van IJzendoorn, André G Uitterlinden, Vincent W V Jaddoe, Chris Haley, Andrew M McIntosh, Kathryn L Evans, Alison Murray, Katri Räikkönen, Jari Lahti, Ellen A Nohr, Thorkild I A Sørensen, Torben Hansen, Camilla S Morgen, Elisabeth B Binder, Susanne Lucae, Juan Ramon Gonzalez, Mariona Bustamante, Jordi Sunyer, John W Holloway, Wilfried Karmaus, Hongmei Zhang, Ian J Deary, Naomi R Wray, John M Starr, Marian Beekman, Diana van Heemst, P Eline Slagboom, Pierre-Emmanuel Morange, David-Alexandre Trégouët, Jan H Veldink, Gareth E Davies, Eco J C de Geus, Dorret I Boomsma, Judith M Vonk, Bert Brunekreef, Gerard H Koppelman, Marta E Alarcón-Riquelme, Rae-Chi Huang, Craig E Pennell, Joyce van Meurs, M Arfan Ikram, Alun D Hughes, Therese Tillin, Nish Chaturvedi, Zdenka Pausova, Tomas Paus, Timothy D Spector, Meena Kumari, Leonard C Schalkwyk, Peter M Visscher, George Davey Smith, Christoph Bock, Tom R Gaunt, Jordana T Bell, Bastiaan T Heijmans, Jonathan Mill, Caroline L Relton

Nat Genet. 2021 Sep;53(9):1311-1321. doi: 10.1038/s41588-021-00923-x. Epub 2021 Sep 6.

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