Publications

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Riviè JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T

Eur J Hum Genet. 2016 Jun;24(6):838-43. doi: 10.1038/ejhg.2015.211. Epub 2015 Sep 23. (June 2016).

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]