Search filters

List of works by Thomas Bourgeron

11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures

scientific article published on 3 September 2015

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

scientific article published on 23 September 2015

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A high frequency of Y chromosome deletions in males with nonidiopathic infertility

scientific article published on 01 October 1999

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

scientific article published on 14 October 2011

A synaptic trek to autism

scientific article (publication date: April 2009)

Abnormal melatonin synthesis in autism spectrum disorders

scientific article

Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4.

scientific article

Adult male mice emit context-specific ultrasonic vocalizations that are modulated by prior isolation or group rearing environment

scientific article

Against Le Packing: A Consensus Statement

Alterations in synapsis formation and function in autism disorders

scientific article published in January 2008

An investigation of ribosomal protein L10 gene in autism spectrum disorders

scientific article

Analysis of X chromosome inactivation in autism spectrum disorders

scientific article published on September 2008

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

scientific journal article

Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles

scientific article published on 01 June 2020

Autism: more evidence of a genetic cause

scientific article published in February 2009

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

scientific article

Behavioral profiles of mouse models for autism spectrum disorders

scientific article published on 05 January 2011

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

scientific article

Cerebellar volume in autism: Meta-analysis and analysis of the ABIDE cohort

scholarly article published 1 February 2017

Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission

scientific article

Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders

scientific article

Contactin 4, -5 and -6 differentially regulate neuritogenesis while they display identical PTPRG binding sites.

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway

scientific article

Current knowledge on the genetics of autism and propositions for future research

scientific article published on 8 June 2016

Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders

scientific article published on 07 January 2021

Development of an autism severity score for mice using Nlgn4 null mutants as a construct-valid model of heritable monogenic autism

scientific article published on 23 November 2012

Differentiation from human pluripotent stem cells of cortical neurons of the superficial layers amenable to psychiatric disease modeling and high-throughput drug screening

scientific article published on 20 August 2013

Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia

scientific article

Dynamics in enzymatic protein complexes offer a novel principle for the regulation of melatonin synthesis in the human pineal gland

article

Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations

scientific article

Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders

scientific article published on January 2006

Fragile X syndrome and autism at the intersection of genetic and neural networks

scientific article published on October 2006

Frequency and transmission of glutamate receptors GRIK2 and GRIK3 polymorphisms in patients with obsessive compulsive disorder.

scientific article

From the genetic architecture to synaptic plasticity in autism spectrum disorder

scientific article published on August 2015

Functional impact of global rare copy number variation in autism spectrum disorders

scientific article published on 15 July 2010

Gene sequence, localization, and evolutionary conservation of DAZLA, a candidate male sterility gene

scientific article

Genetic and Environmental Influences on the Visual Word Form and Fusiform Face Areas

scientific article published on 13 May 2014

Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder

scientific article published on 13 June 2012

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

scientific article

Genetic markers in psychiatric genetics

scientific article

Genetic variants of FOXP2 and KIAA0319/TTRAP/THEM2 locus are associated with altered brain activation in distinct language-related regions.

scientific article

Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders

Genetics of autism: from genome scans to candidate genes

scientific article published in November 2003

Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability

scientific article published on 07 January 2021

Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14

scientific article

Genomic architecture of human neuroanatomical diversity

scientific article published on 16 September 2014

Génétique etbusiness : défendons la iberté de critique !

scientific article published on 01 May 2007

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders

scientific article

Heterozygous FA2H mutations in autism spectrum disorders

scientific article

High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters

scientific article

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

scientific article

Identification and validation of biomarkers for autism spectrum disorders

scientific article published in December 2015

Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population

scientific article

Identification of the human KIF13A gene homologous to Drosophila kinesin-73 and candidate for schizophrenia

scientific article (publication date: 15 May 2001)

Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human

scientific article

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

scientific article published on 06 July 2010

Lack of replication of previous autism spectrum disorder GWAS hits in European populations

scientific article published on 15 July 2016

Linkage and association of the glutamate receptor 6 gene with autism

scientific article published on January 2002

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

Mass-spectrometry analysis of the human pineal proteome during night and day and in autism

scientific article published on 23 December 2020

Maternal transmission disequilibrium of the glutamate receptor GRIK2 in schizophrenia.

scientific article

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

scientific article

Mitochondrial DNA inheritance in patients with deleted mtDNA.

scientific article published on September 2001

Mitochondrial function and male infertility

scientific article

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

scientific article

Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls

scientific article

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

scientific article

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

scientific article

Neuroanatomical Diversity of Corpus Callosum and Brain Volume in Autism: Meta-analysis, Analysis of the Autism Brain Imaging Data Exchange Project, and Simulation

scientific article

Neurobiology of autism gene products: towards pathogenesis and drug targets.

scientific article published on 14 January 2014

No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects

scientific article

Production of soluble, active acetyl serotonin methyl transferase in Leishmania tarentolae

scientific article published on 3 August 2010

Progress toward treatments for synaptic defects in autism

scientific article published on 06 June 2013

Recording Mouse Ultrasonic Vocalizations to Evaluate Social Communication

scientific article

Reduced 3-O-methyl-dopa levels in OCD patients and their unaffected parents is associated with the low activity M158 COMT allele

scientific article published on March 2010

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

scientific article

SHANK1 Deletions in Males with Autism Spectrum Disorder

scientific article

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

scientific article

Screening, intervention and outcome in autism and other developmental disorders: the role of randomized controlled trials

scientific article published in August 2014

Searching for ways out of the autism maze: genetic, epigenetic and environmental clues

scientific article

Sequencing ASMT identifies rare mutations in Chinese Han patients with autism

scientific article

Significant correlation between a set of genetic polymorphisms and a functional brain network revealed by feature selection and sparse Partial Least Squares

scientific article published on 8 July 2012

Social communication in mice--are there optimal cage conditions?

scientific article

Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder

scientific article (published 2005-12-01)

The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations

scientific article published on 28 August 2013

The asymmetry of telomere replication contributes to replicative senescence heterogeneity

scientific article

The emerging role of SHANK genes in neuropsychiatric disorders

scientific article published on 07 October 2013

The genetic landscapes of autism spectrum disorders

scientific article published on 22 July 2013

The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture

scientific article published on 14 May 2015

The meaning of significant mean group differences for biomarker discovery

scientific article published on 18 November 2021

The possible interplay of synaptic and clock genes in autism spectrum disorders

scientific article published on January 2007

The serotonin-N-acetylserotonin-melatonin pathway as a biomarker for autism spectrum disorders

scientific article

Three-dimensional Quantification of Dendritic Spines from Pyramidal Neurons Derived from Human Induced Pluripotent Stem Cells

scientific article published on 10 October 2015

Transduction of the human gene FAM8A1 by endogenous retrovirus during primate evolution

scientific article published in November 2001

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations

scientific article (publication date: 4 March 2011)

Vitamin d in the general population of young adults with autism in the faroe islands

scientific article

Y chromosome and spermatogenesis

scientific article published in July 1997

Y chromosome haplogroups in autistic subjects

scientific article published in January 2002

[Genetic control of spermatogenesis: Y chromosome and male infertility]

scientific article published on 01 May 1999

[The Human Genome Project and the genetics of infertility]

scientific article published on 01 March 2000

Paulina is supported by:

About Paulina

Help