Publications "Gènes et Autisme"

Publications internationales sur l’autisme (2002-2023)

Pr Marion Leboyer

Lefebvre A, Traut N, Pedoux A, et al. Exploring the multidimensional nature of repetitive and restricted behaviors and interests (RRBI) in autism: neuroanatomical correlates and clinical implications. Molecular Autism 14, 45 Nov (2023). https://doi-org.proxy.insermbiblio.inist.fr/10.1186/s13229-023-00576-z

Marchix J, Le Dréan M, Oullier T, et al.  Fecal microbiota from adult with autism spectrum disorder alters brain and digestive functions in recipient mice Neurogastroenterology and motility, Sept 2023, 35 (2)

Arenella, M., Matuleviciute, R., Tamouza, R et al. Immunogenetics of autism spectrum disorder: A systematic literature review, Brain, Behavior, and Immunity (2023), doi: https://doi.org/10.1016/j.bbi.2023.09.010 

Loza, E; Amsellem, F, et al.   D’ARC, BF. A mind-reading puzzle: Autistic people are more efficient at a theory-of-mind task. Research in autism spectrum disorders 101, Mar 2023

Lefebvre A, Tillmann J, Cliquet F, et al. Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways. Autism Res. 2022 Dec 4. doi: 10.1002/aur.2861. 

Laidi C; Neu N, et al.   Preserved navigation abilities and spatio-temporal memory in individuals with autism spectrum disorder Autisme Res. Dec 2022 (Early Access) | DO 10.1002/aur.2865

Laidi C, Floris Dl, Tillmann J et al. Cerebellar Atypicalities in Autism? Biol Psychiatry. 2022 Oct 15;92(8):674-682. doi: 10.1016/j.biopsych.2022.05.020. Epub 2022 May 22. PMID: 36137706

Amestoy A, Guillaud E, Cazalets Jr, et al.  Visual attention and inhibitory control in children, teenagers and adults with autism without intellectual disability: results of oculomotor tasks from a 2-year longitudinal follow-up study (InFoR) Jan 5 2022 | Molecular Autism 2021 Nov 13;12(1):71. doi: 10.1186/s13229-021-00474-2.PMID: 34774105 

Gonzales J, Marchix J, Aymeric L, et al. Fecal Supernatant from Adult with Autism Spectrum Disorder Alters Digestive Functions, Intestinal Epithelial Barrier, and Enteric Nervous System. Neunlist M. Microorganisms. 2021 Aug 13;9(8):1723. doi: 10.3390/microorganisms9081723.PMID: 34442802 

Lefebvre A, Cohen A, Maruani A, et al. Discriminant value of repetitive behaviors in families with autism spectrum disorder and obsessional compulsive disorder probands. Autism Res. 2021 Jul 19. doi: 10.1002/aur.2570. Online ahead of print.PMID: 34278736

Baltazar M, Geoffray Mm, Chatham C, et al. Reading the Mind in the Eyes» in Autistic Adults is Modulated by Valence and Difficulty: An InFoR Study. Autism Res. 2021 Feb;14(2):380-388. doi: 10.1002/aur.2390. Epub 2020 Sep 15.PMID: 32929870 

Pagan C, Benabou M, Leblond C, et al. Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders . Translational Psychiatry . 2021 Jan 7;11(1):23. doi: 10.1038/s41398-020-01125-5.PMID: 33414449 

Lefevre A, Richard N, Mottolese R, Leboyer M, Sirigu A. An Association Between Serotonin 1A Receptor, Gray Matter Volume, and Sociability in Healthy Subjects and in Autism Spectrum Disorder. Autism Res. 2020 Nov;13(11):1843-1855. doi: 10.1002/aur.2360. Epub 2020 Aug 30.PMID: 32864880

Briot K, Jean F, Jouni A, et al. Social Anxiety in Children and Adolescents With Autism Spectrum Disorders Contribute to Impairments in Social Communication and Social Motivation. Front Psychiatry. 2020 Jul 24;11:710. doi: 10.3389/fpsyt.2020.00710. 

Gonzales J, Aymeric L, Marchix J, et al. Effects of fecal supernatant from autism spectrum disorder patients on intestinal permeability and enteric nervous system phenotype. Neurogastroenterology and mobility 2020 Mar, Volume: ‏ 32   Special Issue: ‏ SI   Supplement: ‏ 1

Tamouza R, Fernell E, Eriksson Ma, et al. HLA Polymorphism in Regressive and Non-Regressive Autism: A Preliminary Study. Autism Res. 2020 Feb;13(2):182-186. doi: 10.1002/aur.2217. Epub 2019 Oct 8.PMID: 31593375

Bennabi M, Tarantino N, Gaman A, et al. Persistence of dysfunctional natural killer cells in adults with high functioning autism spectrum disorders: stigma/consequence of unresolved early infectious events? Mol Autism, May 2019, 10 :22

Laidi C, Boisgontier J, Pierrefeu A et al. Decreased Cortical Thickness in the Anterior Cingulate Cortex in Adults with Autism. J Autism Dev Disorder 2019, 49, 1402 - 1409

Pape K, Tamouza R, Zipp F, Leboyer M. Immunoneuropsychiatry - novel perspectives on brain disorders. Nature Reviews Neurology, 15 Avril 2019, https://doi.org/10.1038/

Rincel M, Aubert P, Chevalier J, et al. Multi-hit early life adversity affects gut microbiota, brain and behavior in a sex-dependent manner. Brain Behav Immun. 2019 Mar 11. 

Holiga S, Hipp J, Chatham C, et al. Reproducible functional connectivity alterations are associated with autism spectrum disorder. Science Translational Medicine, Mars 2019, 11, 481 :269-279

Laidi C, Boisgontier J, De Pierrefeu A, et al. Decreased Cortical Thickness in the Anterior Cingulate Cortex in Adults with Autism. J Autism Dev Disord. 2018 Dec 3. doi: 10.1007/s10803-018-3807-3. [Epub ahead of print]

Lefevre A, Mottolese R, Redouté J, Costes N, Le Bars D, Geoffray Mm, Leboyer M, Sirigu A. Oxytocin Fails to Recruit Serotonergic Neurotransmission in the Autistic Brain. Cereb Cortex. 2018 Dec 1;28(12):4169-4178

D’albis Ma, Guevara P, Guevara M, Laidi C et al. Local structural connectivity is associated with social cognition in autism spectrum disorder. Brain. 2018 Dec 1;141(12):3472-3481

Septier M, Peyre H, Amsellem F, et al. Increased risk of ADHD in families with ASD.  Eur Child Adolesc Psychiatry.2018 Sep 28. doi: 10.1007/s00787-018-1206-0. 

Maurer C, Chambon V, Bourgeois-Gironde S, Leboyer M, Zalla T. The influence of prior reputation and reciprocity on dynamic trust-building in adults with and without autism spectrum disorder. Cognition. 2018 Mar;172:1-10. doi: 10.1016/j.cognition.2017.11.007. 

Brainstorm Consortium et al Analysis of shared heritability in common disorders of the brain. Science. 2018 Jun 22;360(6395). pii: eaap8757. doi: 10.1126/science.aap8757

Bennabi M, Gaman A, Delorme R, et al. HLA-class II haplotypes and Autism Spectrum disorders Scientific  Report, 2018 May , 8 :7639

Zalla T, Seassau M, Cazalis F, Gras D, Leboyer M. Saccadic eye movements in adults with high-functioning autism spectrum disorder. Autism. 2018 Feb;22(2):195-204. doi: 10.1177/1362361316667057. 

Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium. Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Mol Autism. 2017 May 22;8:21. doi: 10.1186/s13229-017-0137-9. 

Benabou M, Rolland T, Leblond Cs, et al. Heritability of the melatonin synthesis variability in autism spectrum disorders.Science Rep. 2017 Dec 18;7(1):17746. doi: 10.1038/s41598-017-18016-3.

Hotier S, Leroy F, Boisgontier J, Laidi C, et al.  Social cognition in autism is associated with the neurodevelopment of the posterior superior temporal sulcus.  Acta Psychiatr Scand. 2017 Nov;136(5):517-525. doi: 10.1111/acps.12814. 

Lefevre A, Mottolese R, Redouté J, et al.  Oxytocin Fails to Recruit Serotonergic Neurotransmission in the Autistic Brain. Cereb Cortex. 2017 Oct 17:1-10. doi: 10.1093/cercor/bhx272.

Laidi C, Boisgontier J, Chakravarty Mm, et al.  Cerebellar anatomical alterations and attention to eyes in autism. Sci Rep. 2017 Sep 20;7(1):12008. doi: 10.1038/s41598-017-11883-w.

Grea H, Scheid I, Gaman A, et al.  Clinical and autoimmune features of a patient with autism spectrum disorder seropositive for anti-NMDA receptor autoantibody Dialogues in Clinical Neuroscience, 2017, Vol. 19, N° 1

Pagan C, Goubran-Botros H, Delorme R Benabou M, et al.  Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levlers in patients with autism spectrum disorders. Scientific reports, 2017, 7 / 2096, DOI : 10.1038/s41598-017-02152-x

Chambon V, Farrer C, Pacherie E, et al. Reduced sensitivity to social priors during action prediction in adults with autism spectrum disorders. Cognition. 2016 Dec 28;160:17-26. doi: 10.1016/j.cognition.2016.12.005.

Beggiato A, Peyre H, Maruani A, et al. Gender differences in autism spectrum disorders: Divergence among specific core symptoms. Autism Res. 2016 Nov 3. doi: 10.1002/aur.1715

Katz J, D’albis Ma, Boisgontier J, et al. Similar white matter but opposite grey matter changes in schizophrenia and high-functioning autism. Acta Psychiatr Scand. 2016 Jul;134(1):31-9. doi: 10.1111/acps.12579

Mercati O, Huguet G, Danckaert A, et al. CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. Mol Psychiatry. 2016 May 10. doi: 10.1038/mp.2016.61.

Forgeot D’arc B, Delorme R, Zalla T, Lefebvre A, Amsellem F, Moukawane S, Letellier L, Leboyer M, Mouren Mc, Ramus F. Gaze direction detection in autism spectrum disorder. Autism. 2016 Apr 30. 

Andari E, Richard N, Leboyer M, Sirigu A. Adaptive coding of the value of social cues with oxytocin, an fMRI study in autism spectrum disorder.Cortex. 2016 Mar;76:79-88. doi: 10.1016/j.cortex.2015.12.010.

Maruani A, Huguet G, Beggiato A, et al. 11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures. Am J Med Genet A. 2015 Dec 167(12):3019-30.

Pilorge M, Fassier C, Le Corronc H, et al. Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. Mol Psychiatry. 2015 Sep 15. doi: 10.1038/mp.2015.139.

Bennabi M, Delorme R, Oliveira J, et al. Dectin-1 Polymorphism: A Genetic Disease Specifier in Autism Spectrum Disorders ? Plos One, 2015 Sep 9;10(9):e0137339

Pieron M, Seassau M, Leboyer M, Zalla T Accelerated time course of saccadic inhibition of return in individuals with autism spectrum disorders.Exp Brain Res. 2015 Mar;233(3):767-75

Tabet Ac, Verloes A, Pilorge M, et al. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.Mol Autism. 2015 March 25;6:19. 

Zalla T, Miele D, Leboyer M, Metcalfe J. Metacognition of agency and theory of mind in adults with high functioning autism Conscious Cogn. 2015 Jan 31 : 126-38

Pagan C, Delorme R, Callebert J, et al. The serotonin-N-acetylserotonin–melatonin pathway as a biomarker for autism spectrum disorders, Transl Psychiatry. 2014 November; 4(11): e479

Pieron M, Seassau M, Leboyer M, Zalla T. Accelerated time course of saccadic inhibition of return in individuals with autism spectrum disorders. Exp Brain Res. 2014 Nov 30.

Barbalat G, Leboyer M, Zalla T. A specific impairment in cognitive control in individuals with high-functioning autism. J Psychiatr Res. 2014 Nov;58:26-35.

Zalla T, Sirigu A, Robic S, et al. Feelings of regret and disappointment in adults with high-functioning autism. Cortex. 2014 Sep; 58:112-22

Leblond Cs, Nava C, Polge A, et al. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.PLoS Genet. 2014 Sep 4;10(9)

Mcgrath Lm, Yu D, Marshall C, et al.  Copy number variation in obsessive-compulsive disorder and tourette syndrome : a cross-disorder study. J Am Acad Child Adolesc Psychiatry. 2014 Aug; 53(8):910-9

Pinto D, Delaby E, Merico D, et al.  Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014, 94(5):677-94. 

Huguet G., Nava C., Lemiere N, et al. (2014) Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders. PLoS One 9(3):e88600.

Scheid I, Maruani A, Huguet G, et al. Heterozygous FA2H mutations in autism spectrum disorders. BMC Med Genet. 2013 Dec 3;14(1):124.

Gesundheit B, Rosenzweig JP, Naor D, et al. Immunological and autoimmune considerations of autism spectrum disorders. J Autoimmun. 2013 aug;44:1-7. 

Delorme R, Ey E, Toro R, et al. Progress toward treatments for synaptic defects in autism. Nat Med. 2013 Jun;19(6):685-94.

Chaste P, Leboyer M. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci. 2012 Sep;14(3):281-92

Nava C, Lamari F, Héron D, et al. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Transl Psychiatry. 2012 Oct 23

Buon M, Dupoux E, Jacob P, et al. The Role of Causal and Intentional Judgments in Moral Reasoning in Individuals with High Functioning Autism. J Autism Dev Disord. 2012 Jul 4

Richard Anney, Lambertus Klei, Dalila Pinto et al, Individual common variants exert weak effects on the risk for autism spectrum disordersHum Mol Genet. 2012 Nov 1;21(21):4781-92.

Chaste P, Betancur C, Gérard-Blanluet M, et al. High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters. Mol Autism. 2012 Jun 27;3(1):5

Autism genome project, A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.Hum Genet. 2011 Oct 14.

Zalla T, Barlassina L, Buon M et al. Moral judgment in adults with autism spectrum disorders.  Cognition. 2011 Oct;121(1):115-26.

Chaste P, Clement N, Botros HG, et al. Genetic variations of the melatonin pathway in patients with attention-deficit and   hyperactivity disorders. J Pineal Res. 2011 Apr 27

Pagan C, Botros HG, Poirier K, et al. Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability. BMC Med Genet. 2011 Jan 20;12(1):17

Zalla T, Daprati E, Sav AM, et al. Memory for self-performed actions in individuals with Asperger syndrome. PLoS One. 2010 Oct 12;5, 10

Devillard F, Guinchat V, Moreno-De-Luca D, et al. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism. Am J Med Genet A. 2010 Sep;152A(9):2346-54

Anney R, et al. A genome-wide scan for common alleles affecting risk for autism Hum. Mol. Genet., 2010, Oct 15, 19, 4072-4082

Toro R, Konyukh M, Delorme R, et al.  Key role for gene dosage and synaptic homeostasis in autism spectrum disorders Trends Genet. 2010 Aug;26(8):363-72

Chaste P, Clement N, Mercati O, et al. Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general populations PLoS One. 2010 Jul 15;5(7):e11495

Functional impact of global rare copy number variation in autism spectrum Autism Genome Project,Nature. 2010 Jul 15;466(7304):368-72`

Andari E, Duhamel J-R, Zalla T, et al. Promoting Social Behaviour with Oxytocin in High-Functioning Autism Spectrum Disorders Proc Natl Acad Sci. 2010 Mar 2;107(9):4389-94.

Gong X, Delorme R, Fauchereau F, et al. An investigation of ribosomal protein L10 gene in autism spectrum disorders. BMC Med Genet. 2009 Jan 23

Henningsson S, Jonsson L, Ljunggren E, et al. Possible association between the androgen receptor gene and autism spectrum disorder, Psychoneuroendocrinology, 2009, Jun 34 (5) : 752-61

Bourgeron T, Leboyer M, Delorme R. Autism: more evidence of a genetic cause] Bull Acad Natl Med. 2009 Feb;193(2):299-304

Weiss LA, Arking DE ; Gene Discovery Project of Johns Hopkins & the Autism Consortium, et al. A genome-wide linkage and association scan reveals novel loci for autism. Nature. 2009 Oct 8;461(7265):802-8

Zalla T, Anca-Maria S, Leboyer M, Stimulus reward association and reversal learning in individuals with asperger syndrome.Research in individuals with Autism spectrum disorders, 2009, 3: 913-923

Zalla T, Sav Am, Stopin A, et al. Faux pas detection and intentional action in asperger syndrome. A replication on a French sample. J Autism Dev Disord, 2009 Feb;39(2):373-82.

Depienne C, Moreno-De-Luca D, Heron D, et al. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry, 2009 Aug 15;66(4):349-59

Liu XQ, Paterson AD, Szatmari P, et al. (2008) Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biol Psychiatry 64, 561-570 

Gong X, Bacchelli E, Blasi F, et al.  (2008) Analysis of X chromosome inactivation in autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 147B, 830-835 

Durand CM, Chaste P, Fauchereau F, et al. (2008) Identification d’une voie synaptique associée à l’autisme. Médecine/Sciences 24, 25-29 

Melke J, Goubran-Botros H, Chaste P, et al. (2008) Abnormal melatonin synthesis in autism spectrum disorders. Mol Psychiatry 13, 90-98 

Buxbaum JD, Cai G, Nygren G, et al. (2007) Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.BMC Med Genet 8, 68 

Depienne C, Heron D, Betancur C, et al. (2007) Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet 44, 452-458 

Buxbaum JD, Cai G, Chaste P, et al. (2007) Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet 144B, 484-491 

The Autism Genome Project Consortium (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39, 319-328 

Delorme R, Gousse V, Roy I, et al. Shared executive dysfunctions in unaffected relatives of patients with autism and obsessive-compulsive disorder, Eur Psychiatry. 2007 Jan;22(1):32-8.

Chaste P, Nygren G, Anckarsäter H, et al. (2007) Mutation screening of the ARX gene in patients with autism. Am J Med Genet B Neuropsychiatr Genet 144, 228-230 

Durand CM, Betancur C, Boeckers TM, et al. (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39, 25-27 

Delorme R, Durand CM, Betancur C, et al. (2006) No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and controls. Biol Psychiatry 60, 202-203 

Durand C.M, Kappeler C, Betancur C, et al.  (2005) Expression and genetic variability of PCDH11Y, a gene specific to homo sapiens and candidate for susceptibility to psychiatric disorders. Am J Med Genet B Neuropsychiatr Genet 141, 67-70

Gervais H, Belin P, Boddaert N, et al. Abnormal Cortical Voice Processing in Autism  Nature Neuroscience, 2004, 7, 8: 801-802

Lauritsen M.B, Nyegaard M, Betancur C, et al. Analysis of Transmission of Novel Polymorphisms in the Somatostatin Receptor 5 (SSTR5) Gene in Patients With Autism American Journal of Medical Genetics (Neuropsychiatric Genetics), 2003, 121B :100-104.

Jamain S, Quach H, Betancur C, et al. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genet 34, 27-29

Jamain S, Quach H, Quintana-Murci L, et al. (2002b) Y chromosome haplogroups in autistic subjects. Mol Psychiatry 7, 217-219

Jamain S, Betancur C, Quach H, et al. (2002a) Linkage and association between glutamate receptor 6 and autism. Mol Psychiatry 7, 302-310