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uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

Omar Soukarieh, Emmanuelle Tillet, Carole Proust, Charlène Dupont, Béatrice Jaspard-Vinassa, Florent Soubrier, Aurélie Goyenvalle, Mélanie Eyries & David-Alexandre Trégouët.

npj Genomic Medicine 2023; volume 8: 32 https://www.nature.com/articles/s41525-023-00378-5

Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.

Iglesias MJ, Sanchez-Rivera L, Ibrahim-Kosta M, Naudin C, Munsch G, Goumidi L, Farm M, Smith PM, Thibord F, Kral-Pointner JB, Hong MG, Suchon P, Germain M, Schottmaier W, Dusart P, Boland A, Kotol D, Edfors F, Koprulu M, Pietzner M, Langenberg C, Damrauer SM, Johnson AD, Klarin DM, Smith NL, Smadja DM, Holmström M, Magnusson M, Silveira A, Uhlén M, Renné T, Martinez-Perez A, Emmerich J, Deleuze JF, Antovic J, Soria Fernandez JM, Assinger A, Schwenk JM, Souto Andres JC, Morange PE, Butler LM, Trégouët DA, Odeberg J

Nat Commun. 2023 Jun 7;14(1):3280. doi: 10.1038/s41467-023-38383-y. PMID: 37286573

Association of ABO blood groups with venous thrombosis recurrence in middle-aged patients: insights from a weighted Cox analysis dedicated to ambispective design.

Munsch G, Goumidi L, van Hylckama Vlieg A, Ibrahim-Kosta M, Bruzelius M, Deleuze JF, Rosendaal FR, Jacqmin-Gadda H, Morange PE, Trégouët DA.

BMC Med Res Methodol. 2023 Apr 22;23(1):99. doi: 10.1186/s12874-023-01915-7. PMID: 37087423

Genome-wide association study of a semicontinuous trait: illustration of the impact of the modeling strategy through the study of Neutrophil Extracellular Traps levels.

Munsch G, Proust C, Labrouche-Colomer S, Aïssi D, Boland A, Morange PE, Roche A, de Chaisemartin L, Harroche A, Olaso R, Deleuze JF, James C, Emmerich J, Smadja DM, Jacqmin-Gadda H, Trégouët DA.

NAR Genom Bioinform. 2023 Jun 28;5(2):lqad062. doi: 10.1093/nargab/lqad062. PMID: 3738881

Polygenic risk of Major Depressive Disorder as a risk factor for Venous Thromboembolism

Ward J, Le NQ, Suryakant S, Brody JA, Amouyel P, Boland A, Brown R, Cullen B, Debette S, Deleuze JF, Emmerich J, Graham N, Germain M, Anderson JJ, Pell JP, Lyall DM, Lyall LM, Smith DJ, Wiggins KL, Soria JM, Souto JC, Morange PE, Smith NL, Tregouet D, Sabater-Lleal M, Strawbridge RJ.

Blood Adv. 2023 Jul 3:bloodadvances.2023010562. doi: 10.1182/bloodadvances.2023010562.  PMID: 37399490

DNA methylation analysis identifies novel genetic loci associated with circulating fibrinogen levels in blood.

Hahn J, Bressler J, Domingo-Relloso A, Chen MH, McCartney DL, Teumer A, van Dongen J, Kleber ME, Aïssi D, Swenson BR, Yao J, Zhao W, Huang J, Xia Y, Brown MR, Costeira R, de Geus EJC, Delgado GE, Dobson DA, Elliott P, Grabe HJ, Guo X, Harris SE, Huffman JE, Kardia SLR, Liu Y, Lorkowski S, Marioni RE, Nauck M, Ratliff SM, Sabater-Lleal M, Spector TD, Suchon P, Taylor KD, Thibord F, Trégouët DA, Wiggins KL, Willemsen G, Bell JT, Boomsma DI, Cole SA, Cox SR, Dehghan A, Greinacher A, Haack K, März W, Morange PE, Rotter JI, Sotoodehnia N, Tellez-Plaza M, Navas-Acien A, Smith JA, Johnson AD, Fornage M, Smith NL, Wolberg AS, Morrison AC, de Vries PS.

J Thromb Haemost. 2023 Jan 27:S1538-7836(23)00050-8. doi: 10.1016/j.jtha.2023.01.015. PMID: 36716967.

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