Psychiatry genetic



Research center

8 rue du général Sarrail
94011 Créteil
Jorge Boczkowski


Université Paris-Est Créteil



Mots clefs

biologie moléculaire
Available to host a PhD student


Hou L et al. Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study. Lancet. 2016 Mar 12;387(10023):1085-93. doi: 10.1016/S0140-6736(16)00143-4. Epub 2016 Jan 22.

Consortium on Lithium Genetics, Hou L, Heilbronner U, Rietschel M, Kato T, Kuo PH, McMahon FJ, Schulze TG. Variant GADL1 and response to lithium in bipolar I disorder. N Engl J Med. 2014 May 8;370(19):1857-9. doi: 10.1056/NEJMc1401817#SA4. 

Schork AJ, Thompson WK, Pham P, Torkamani A, Roddey JC, Sullivan PF, Kelsoe JR, O'Donovan MC, Furberg H, Tobacco,Genetics C, Bipolar Disorder Psychiatric Genomics C, Schizophrenia Psychiatric Genomics C, Schork NJ, Andreassen OA and Dale AM. All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs. 2013. PLoS Genet, 9: e1003449.

Scott J, Leboyer M, Hickie I, Berk M, Kapczinski F, Frank E, Kupfer D and McGorry P. Clinical staging in psychiatry: a cross-cutting model of diagnosis with heuristic and practical value. 2013. Br J Psychiatry, 202: 243-5.

Smoller JW, Craddock N, Kendler K, Lee PH, Neale BM, Nurnberger JI, Ripke S, Santangelo S and Sullivan PF. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 2013. Lancet, 381: 1371-9.

Sperduti M, Pieron M, Leboyer M and Zalla T. Altered Pre-reflective Sense of Agency in Autism Spectrum Disorders as Revealed by Reduced Intentional Binding. 2013. J Autism Dev Disord.
Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, Osiecki L, McGrath L,Haddad S, Crane J, Hezel D, Illman C, Mayerfeld C, Konkashbaev A, Liu C, Pluzhnikov A, Tikhomirov A, Edlund CK, Rauch SL,Moessner R, Falkai P, Maier W, Ruhrmann S, Grabe HJ, Lennertz L, Wagner M, Bellodi L, Cavallini MC, Richter MA, Cook EH, Jr.,Kennedy JL, Rosenberg D, Stein DJ, Hemmings SM, Lochner C, Azzam A, Chavira DA, Fournier E, Garrido H, Sheppard B, Umana
P, Murphy DL, Wendland JR, Veenstra-Vanderweele J, Denys D, Blom R, Deforce D, Van Nieuwerburgh F, Westenberg HG, Walitza S, Egberts K, Renner T, Miguel EC, Cappi C, Hounie AG, Conceicao do Rosario M, Sampaio AS, Vallada H, Nicolini H, Lanzagorta N, Camarena B, Delorme R, Leboyer M, Pato CN, Pato MT, Voyiaziakis E, Heutink P, Cath DC, Posthuma D, Smit JH, Samuels J, Bienvenu OJ, Cullen B, Fyer AJ, Grados MA, Greenberg BD, McCracken JT, Riddle MA, Wang Y, Coric V, Leckman JF, Bloch M,
Pittenger C, Eapen V, Black DW, Ophoff RA, Strengman E, Cusi D, Turiel M, Frau F, Macciardi F, Gibbs JR, Cookson MR, Singleton A, Arepalli S, Dillman A, Ferrucci L, Hernandez DG, Johnson R, Longo DL, Nalls MA, R OB, Traynor B, Troncoso J, van der Brug M, Zielke HR, Zonderman A, Hardy J, Hardy JA, Ryten M, Smith C, Trabzuni D, Walker R, Weale M, Crenshaw AT, Parkin MA, Mirel DB,
Conti DV, Purcell S, Nestadt G, Hanna GL, Jenike MA, Knowles JA, Cox N and Pauls DL. Genome-wide association study of obsessive-compulsive disorder. 2013. Mol Psychiatry, 18: 788-98.

Vilain J, Galliot AM, Durand-Roger J, Leboyer M, Llorca PM, Schurhoff F and Szoke A. [Environmental risk factors for schizophrenia:a review]. 2013. Encephale, 39: 19-28.

Fields of research

Neurological and psychiatric diseases

Research Theme

Our research efforts have contributed to a better identification of relevant phenotype for genetic studies, particularly on the field of bipolar disorder, schizophrenia, suicide, autism, OCD and pharmaco-genetic studies. Being principal investigator of national and international groups, she has been able to produce prominent findings such as identification in autism of the first mutations in neuroligins (NLGN-3 and NLGN-4). On top of classical linkage and association studies, her main research contributions have been to more precisely identify relevant phenotypes for psychiatric genetic using two strategies : 1) "candidate symptom" identification among affected subjects allowing the identification of homogenous and more genetic subforms such as early onset bipolar disorder and 2) clinical, biochemical, cognitive and electrophysiological "endophenotypes" among non-affected relatives.