Publications

Improved Microsatellite Instability Detection and Identification by Nuclease-Assisted Microsatellite Instability Enrichment Using HSP110 T17.

Baudrin LG, Duval A, Daunay A, Buhard O, Bui H, Deleuze JF, How-Kit A

Clin Chem. 2018 Jun 14. pii: clinchem.2018.287490. doi: 10.1373/clinchem.2018.287490.

MACARON: A python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data

Khan W, Saripella GV, Ludwig T, Cuppens T, Thibord F; FREX consortium, Génin E, Deleuze JF, Trégouët DA; GENMED Consortium

Bioinformatics. 2018 May 3. doi: 10.1093/bioinformatics/bty382. [Epub ahead of print]

Download the source code in a ZIP archive

Cerebellar Volume in Autism: Literature Meta-analysis and Analysis of the Autism Brain Imaging Data Exchange Cohort

Traut N, Beggiato A, Bourgeron T, Delorme R, Rondi-Reig L, Paradis AL, Toro R

Biol Psychiatry. 2018 Apr 1;83(7):579-588. doi: 10.1016/j.biopsych.2017.09.029. Epub 2017 Oct 10.

Contribution to Alzheimer’s disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Bellenguez C, Charbonnier C, Grenier-Boley B, Quenez O, Le Guennec K, Nicolas G, Chauhan G, Wallon D, Rousseau S,
Richard AC, Boland A, Bourque G, Munter HM, Olaso R, Meyer V, Rollin-Sillaire A, Pasquier F, Letenneur L, Redon R,
Dartigues JF, Tzourio C, Frebourg T, Lathrop M, Deleuze JF, Hannequin D, Genin E, Amouyel P, Debette S, Lambert JC,
Campion D; CNR MAJ collaborators.
Neurobiol Aging. 2017 Nov;59:220.e1-220.e9. doi: 10.1016/j.neurobiolaging.2017.07.001. Epub 2017 Jul 14.
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Heritability of the melatonin synthesis variability in autism spectrum disorders

Marion Benabou, Thomas Rolland, Claire S. Leblond, Gaël A. Millot, Guillaume Huguet, Richard Delorme,
Marion Leboyer, Cécile Pagan, Jacques Callebert, Erik Maronde,  and Thomas Bourgeron.
Sci Rep. 2017; 7: 17746.

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Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study

Lindström S, Germain M, Crous-Bou M, Smith EN, Morange PE, van Hylckama Vlieg A, de Haan HG, Chasman D, Ridker P, Brody J, de Andrade M, Heit JA, Tang W, DeVivo I, Grodstein F, Smith NL,, Tregouet D, Kabrhel C,; INVENT Consortium.

Hum Genet. 2017 Jul;136(7):897-902. doi: 10.1007/s00439-017-1811-x. Epub 2017 May 20.)