Publications

A framework to identify contributing genes in patients with Phelan-McDermid syndrome


Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S,
Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C,
Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N,
Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J,
Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F,
Delorme R2, Bourgeron T.
NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017.

Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk

P. Suchon, M. Germain, A. Delluc, D. Smadja, X. Jouven, B. Gyorgy, N. Saut, M. Ibrahim, J. F. Deleuze,M. C. Alessi,
P. E. Morange & D. A. Trégouët

Scientific Reports 7:45507 DOI: 10.1038/srep45507

CNTN6 mutations are risk factors for abnormal auditory
sensory perception in autism spectrum disorders

Mercati O, Huguet G, Danckaert A, André-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, 
Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP, Gazzellone MJ, Yuen RK, Walker S,
Delépine M, Boland A, Régnault B, Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda Y,
Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg C, Delorme R, Cloëz-Tayarani I, Bourgeron T.

Mol Psychiatry. 2016 May 10. doi: 10.1038/mp.2016.61

Genetics of Venous Thrombosis : update in 2015

Pierre-Emmanuel Morange; Pierre Suchon; David-Alexandre Trégouët

Thrombosis and Haemostasis 114.5/2015

Is there still room for additional common susceptibility alleles for venous thromboembolism ?

Trégouët DA, Delluc A, Roche A, Derbois C, Olaso R, Germain M, de Andrade M, Tang W, Chasman DI, van Hylckama Vlieg A, Reitsma PH, Kabrhel C, Smith N, Morange PE.

J Thromb Haemost. 2016 Jun 21. doi: 10.1111/jth.13392. [Epub ahead of print]

Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism

Germain M, Chasman DI, de Haan H, Tang W, Lindström S, Weng LC, de Andrade M, de Visser MC, Wiggins KL, Suchon P, Saut N, Smadja DM, Le Gal G, van Hylckama Vlieg A, Di Narzo A, Hao K, Nelson CP, Rocanin-Arjo A, Folkersen L, Monajemi R, Rose LM, Brody JA, Slagboom E, Aïssi D, Gagnon F, Deleuze JF, Deloukas P, Tzourio C, Dartigues JF, Berr C, Taylor KD, Civelek M, Eriksson P; Cardiogenics Consortium, Psaty BM, Houwing-Duitermaat J, Goodall AH, Cambien F, Kraft P, Amouyel P, Samani NJ, Basu S, Ridker PM, Rosendaal FR, Kabrhel C, Folsom AR, Heit J, Reitsma PH, Trégouët DA, Smith NL, Morange PE.

Am J Hum Genet. 2015 Mar 11. pii: S0002-9297(15)00051-8.
doi: 10.1016/j.ajhg.2015.01.019.