Publications

Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome.

Darville H, Poulet A, Rodet-Amsellem F, Chatrousse L, Pernelle J, Boissart C, Héron D, Nava C, Perrier A, Jarrige M, Cogé F, Millan MJ, Bourgeron T, Peschanski M, Delorme R, Benchoua A.

2016 Jul;9:293-305. doi: 10.1016/j.ebiom.2016.05.032. Epub 2016 May 27. (July 2016).

ABCA7 rare variants and Alzheimer disease risk. Neurology.

Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Pasquier F, Rollin-Sillaire A, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators.

2016 Jun 7;86(23):2134-7. doi: 10.1212/WNL.0000000000002627. Epub 2016 Apr 1.  (June 2016).

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).

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 Apr 2;96(4):532-42. doi: 10.1016/j.ajhg.2015.01.019. Epub 2015 Mar 12. (April 2015).

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

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