Publications - Results from #36

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype

Manes G, Joly W, Guignard T, Smirnov V, Berthemy S, Bocquet B, Audo I, Zeitz C, Sahel J, Cazevieille C, Sénéchal A, <u>Deleuze JF</u>, <u>Blanché-Koch H</u>, Boland A, Carroll P, Geneviève D, Zanlonghi X, Arndt C, Hamel CP, Defoort-Dhellemmes S, Meunier I

Hum Mol Genet. 2017 Nov 15;26(22):4367-4374. doi: 10.1093/hmg/ddx322.

Association of impaired renal function with venous thrombosis: A genetic risk score approach.

Charmet R, van Hylckama Vlieg A, Germain M, Roussel R, Marre M, Debette S, Amouyel P, Deleuze JF, Hadjadj S, Rosendaal FR, Morange PE, Trégouët DA.

Thromb Res. 2017 Aug 25;158:102-107.

Fibrogenic Potential of PW1/Peg3 Expressing Cardiac Stem Cells

Elisa Yaniz-Galende, PHD, Maguelonne Roux, MSC, Sophie Nadaud, PHD, Nathalie Mougenot, PHD, Marion Bouvet, PHD, Olivier Claude, PHD, Guillaume Lebreton, MD, Catherine Blanc, PHD, Florence Pinet, PHD, Fabrice Atassi, BSC, Claire Perret, MSC, France Dierick, PHD, Sébastien Dussaud, PHD, Pascal Leprince, MD, PHD, David-Alexandre Trégouët, PHD, Giovanna Marazzi, MD, David Sassoon, PHD, Jean-Sébastien Hulot, MD, PHD

J Am Coll Cardiol. 2017 Aug 8;70(6):728-741. doi: 10.1016/j.jacc.2017.06.010.

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, RiviÃ¨ 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).