Thomas Bourgeron
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French scientist & scholar
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Biology
Thomas Bourgeron's Degrees
- PhD Genetics Université Paris Cité
- Masters Molecular and Cellular Biology Université Paris Cité
- Bachelors Biochemistry Université Paris Cité
Why Is Thomas Bourgeron Influential?
(Suggest an Edit or Addition)According to Wikipedia, Thomas Bourgeron is a French scientist working at the Institut Pasteur. His group discovered the first monogenic mutations involved in autism. He is a member of the French Academy of sciences. He works on genes, changes in synapse properties and changes in circadian rhythm in autism-spectrum disorders.
Thomas Bourgeron's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Functional impact of global rare copy number variation in autism spectrum disorders (2010) (1891)
- Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism (2003) (1739)
- Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders (2007) (1397)
- Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007) (1382)
- Biochemical and molecular investigations in respiratory chain deficiencies. (1994) (1201)
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders (2014) (814)
- From the genetic architecture to synaptic plasticity in autism spectrum disorder (2015) (704)
- Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency (1995) (684)
- A synaptic trek to autism (2009) (620)
- Searching for ways out of the autism maze: genetic, epigenetic and environmental clues (2006) (588)
- A genome-wide scan for common alleles affecting risk for autism (2010) (567)
- Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2 (2012) (536)
- Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism (2008) (504)
- Abnormal melatonin synthesis in autism spectrum disorders (2008) (460)
- Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) (452)
- The genetic landscapes of autism spectrum disorders. (2013) (377)
- Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) (371)
- Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) (346)
- Fragile X syndrome and autism at the intersection of genetic and neural networks (2006) (320)
- Linkage and association of the glutamate receptor 6 gene with autism (2002) (319)
- Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. (2010) (317)
- 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 (2017) (301)
- SHANK1 Deletions in Males with Autism Spectrum Disorder. (2012) (284)
- SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism (2011) (277)
- The emerging role of SHANK genes in neuropsychiatric disorders (2014) (219)
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2011) (186)
- Progress toward treatments for synaptic defects in autism (2013) (184)
- The possible interplay of synaptic and clock genes in autism spectrum disorders. (2007) (176)
- The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders (2017) (171)
- Genetic Variants of FOXP2 and KIAA0319/TTRAP/THEM2 Locus Are Associated with Altered Brain Activation in Distinct Language-Related Regions (2012) (157)
- Behavioral profiles of mouse models for autism spectrum disorders (2011) (149)
- Adult Male Mice Emit Context-Specific Ultrasonic Vocalizations That Are Modulated by Prior Isolation or Group Rearing Environment (2012) (140)
- Cntnap4/Caspr4 Differentially Contributes to GABAergic and Dopaminergic Synaptic Transmission (2014) (132)
- Reference charts for respiratory chain activities in human tissues. (1994) (130)
- Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. (1997) (126)
- Clinical presentation of mitochondrial disorders in childhood (1996) (125)
- The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations (2013) (121)
- Identification and validation of biomarkers for autism spectrum disorders (2015) (119)
- The serotonin-N-acetylserotonin–melatonin pathway as a biomarker for autism spectrum disorders (2014) (117)
- Gender differences in autism spectrum disorders: Divergence among specific core symptoms (2017) (113)
- The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation (2017) (113)
- Gene sequence, localization, and evolutionary conservation of DAZLA, a candidate male sterility gene. (1997) (106)
- A high frequency of Y chromosome deletions in males with nonidiopathic infertility. (1999) (105)
- Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE (2012) (104)
- Differentiation from human pluripotent stem cells of cortical neurons of the superficial layers amenable to psychiatric disease modeling and high-throughput drug screening (2013) (102)
- Neuroanatomical Diversity of Corpus Callosum and Brain Volume in Autism: Meta-analysis, Analysis of the Autism Brain Imaging Data Exchange Project, and Simulation (2015) (101)
- Genome-wide meta-analysis of cognitive empathy: heritability, and correlates with sex, neuropsychiatric conditions and cognition (2018) (101)
- Significant correlation between a set of genetic polymorphisms and a functional brain network revealed by feature selection and sparse Partial Least Squares (2012) (100)
- Current knowledge on the genetics of autism and propositions for future research. (2016) (98)
- Assessment of the mitochondrial respiratory chain (1991) (94)
- Identification of Pathway-Biased and Deleterious Melatonin Receptor Mutants in Autism Spectrum Disorders and in the General Population (2010) (93)
- Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder. (2012) (93)
- Development of an autism severity score for mice using Nlgn4 null mutants as a construct-valid model of heritable monogenic autism (2013) (91)
- Altered Connectivity Between Cerebellum, Visual, and Sensory-Motor Networks in Autism Spectrum Disorder: Results from the EU-AIMS Longitudinal European Autism Project. (2019) (87)
- Genome-wide analyses of self-reported empathy: correlations with autism, schizophrenia, and anorexia nervosa (2017) (84)
- Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 (2019) (84)
- Frequency and transmission of glutamate receptors GRIK2 and GRIK3 polymorphisms in patients with obsessive compulsive disorder (2004) (82)
- An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle. (1995) (79)
- Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levels in patients with autism spectrum disorders (2017) (78)
- 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 (2006) (77)
- Insufficient Evidence for “Autism-Specific” Genes (2020) (75)
- Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome (2016) (73)
- Disentangling the Myriad Genomics of Complex Disorders, Specifically Focusing on Autism, Epilepsy, and Schizophrenia (2011) (73)
- Real-time analysis of the behaviour of groups of mice via a depth-sensing camera and machine learning (2019) (72)
- Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4 (2012) (72)
- Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples (2018) (72)
- Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia (2018) (67)
- 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. (1998) (65)
- Neurobiology of autism gene products: towards pathogenesis and drug targets (2014) (65)
- The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle. (1990) (63)
- Association of modifiers and other genetic factors explain Marfan syndrome clinical variability (2018) (62)
- Vitamin D in the General Population of Young Adults with Autism in the Faroe Islands (2014) (62)
- Genetic variations of the melatonin pathway in patients with attention‐deficit and hyperactivity disorders (2011) (61)
- Recording Mouse Ultrasonic Vocalizations to Evaluate Social Communication (2016) (61)
- Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders (2014) (59)
- Fluxes of Nicotinamide Adenine Dinucleotides through Mitochondrial Membranes in Human Cultured Cells* (1996) (58)
- No Human Tryptophan Hydroxylase-2 Gene R441H Mutation in a Large Cohort of Psychiatric Patients and Control Subjects (2006) (55)
- Genomic architecture of human neuroanatomical diversity (2013) (55)
- Genetic and Environmental Influences on the Visual Word Form and Fusiform Face Areas. (2015) (55)
- The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism (2014) (54)
- Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders (2006) (54)
- CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders (2016) (54)
- Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway (2013) (53)
- Cerebellar Volume in Autism: Literature Meta-analysis and Analysis of the Autism Brain Imaging Data Exchange Cohort (2017) (52)
- Y chromosome haplogroups in autistic subjects (2002) (51)
- A framework to identify contributing genes in patients with Phelan-McDermid syndrome (2017) (49)
- Analysis of X chromosome inactivation in autism spectrum disorders (2008) (49)
- Dynamics in enzymatic protein complexes offer a novel principle for the regulation of melatonin synthesis in the human pineal gland (2011) (49)
- Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder (2005) (49)
- Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. (2019) (48)
- The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders: A hypothesis paper (2017) (48)
- Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3 (2017) (47)
- Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia (2020) (45)
- Atypical brain asymmetry in autism – a candidate for clinically meaningful stratification (2020) (45)
- Both rare and common genetic variants contribute to autism in the Faroe Islands (2018) (45)
- Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations (2019) (42)
- Sequencing ASMT Identifies Rare Mutations in Chinese Han Patients with Autism (2013) (39)
- Contactin 4, -5 and -6 differentially regulate neuritogenesis while they display identical PTPRG binding sites (2013) (37)
- Social and non-social autism symptoms and trait domains are genetically dissociable (2019) (37)
- Alpha Waves as a Neuromarker of Autism Spectrum Disorder: The Challenge of Reproducibility and Heterogeneity (2018) (35)
- Maternal transmission disequilibrium of the glutamate receptor GRIK2 in schizophrenia (2004) (35)
- Transduction of the human gene FAM8A1 by endogenous retrovirus during primate evolution. (2001) (34)
- Variations of the Candidate SEZ6L2 Gene on Chromosome 16p11.2 in Patients with Autism Spectrum Disorders and in Human Populations (2011) (34)
- Lack of replication of previous autism spectrum disorder GWAS hits in European populations (2017) (33)
- Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls (2010) (33)
- Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome. (2020) (31)
- The Genetics of Autism Spectrum Disorders (2016) (31)
- Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability (2011) (31)
- Operative list of genes associated with autism and neurodevelopmental disorders based on database review (2021) (30)
- The Neurobiology of Autism (2019) (30)
- A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability (2015) (30)
- HyPyP: a Hyperscanning Python Pipeline for inter-brain connectivity analysis (2020) (29)
- An investigation of ribosomal protein L10 gene in autism spectrum disorders (2009) (29)
- Expression of respiratory chain deficiencies in human cultured cells (1993) (28)
- Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles (2020) (28)
- Mitochondrial function and male infertility. (2000) (27)
- Social and non-social autism symptoms and trait domains are genetically dissociable (2019) (27)
- Genetic correlates of phenotypic heterogeneity in autism (2020) (26)
- Live Mouse Tracker: real-time behavioral analysis of groups of mice (2018) (25)
- Fractionating autism based on neuroanatomical normative modeling (2020) (25)
- Dissecting the phenotypic heterogeneity in sensory features in autism spectrum disorder: a factor mixture modelling approach (2020) (24)
- Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia (2020) (24)
- Phelan-McDermid syndrome: a classification system after 30 years of experience (2022) (22)
- Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability (2021) (22)
- Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts (1993) (22)
- Kidney involvement in mitochondrial disorders. (1995) (21)
- mouseTube – a database to collaboratively unravel mouse ultrasonic communication (2016) (21)
- 11q24.2‐25 micro‐rearrangements in autism spectrum disorders: Relation to brain structures (2015) (20)
- Dlx5 and Dlx6 expression in GABAergic neurons controls behavior, metabolism, healthy aging and lifespan (2019) (20)
- Temporal Profiles of Social Attention Are Different Across Development in Autistic and Neurotypical People. (2020) (19)
- Heritability of the melatonin synthesis variability in autism spectrum disorders (2017) (19)
- Morning Plasma Melatonin Differences in Autism: Beyond the Impact of Pineal Gland Volume (2019) (19)
- Identification of the human KIF13A gene homologous to Drosophila kinesin-73 and candidate for schizophrenia. (2001) (18)
- The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture (2015) (17)
- Screening, Intervention and Outcome in Autism and Other Developmental Disorders: The Role of Randomized Controlled Trials (2014) (17)
- Systematic detection of brain protein-coding genes under positive selection during primate evolution and their roles in cognition (2019) (17)
- Investigation of respiratory chain activity in human heart. (1993) (17)
- Increased risk of ADHD in families with ASD (2018) (17)
- Shank2 Mutant Mice Display Hyperactivity Insensitive to Methylphenidate and Reduced Flexibility in Social Motivation, but Normal Social Recognition (2018) (17)
- Polygenic architecture of human neuroanatomical diversity (2019) (16)
- Interindividual Differences in Cortical Thickness and Their Genomic Underpinnings in Autism Spectrum Disorder. (2021) (15)
- The meaning of significant mean group differences for biomarker discovery (2021) (15)
- Behavioural Phenotypes and Neural Circuit Dysfunctions in Mouse Models of Autism Spectrum Disorder. (2017) (15)
- Social Communication in Mice – Are There Optimal Cage Conditions? (2014) (14)
- Insights from an autism imaging biomarker challenge: Promises and threats to biomarker discovery (2021) (14)
- High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters (2012) (14)
- Production of soluble, active acetyl serotonin methyl transferase in Leishmania tarentolae. (2011) (13)
- LMT USV Toolbox, a Novel Methodological Approach to Place Mouse Ultrasonic Vocalizations in Their Behavioral Contexts—A Study in Female and Male C57BL/6J Mice and in Shank3 Mutant Females (2021) (13)
- Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders (2014) (13)
- Against le packing: a consensus statement. (2011) (12)
- [Genetics of autism: from genome scans to candidate genes]. (2003) (12)
- [Autism: more evidence of a genetic cause]. (2009) (12)
- Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous (1992) (11)
- Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein–Barr virus–transformed lymphocytes in Pearson syndrome (1995) (11)
- Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology (2018) (11)
- Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry (2021) (11)
- Anatomy and Cell Biology of Autism Spectrum Disorder: Lessons from Human Genetics. (2017) (11)
- Resting state EEG power spectrum and functional connectivity in autism: a cross-sectional analysis (2022) (10)
- Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people (2022) (10)
- Viva Europa, a Land of Excellence in Research and Innovation for Health and Wellbeing (2017) (10)
- Editorial: Shankopathies: Shank Protein Deficiency-Induced Synaptic Diseases (2020) (9)
- Genetic Causes of Autism Spectrum Disorders (2016) (9)
- Animal Models of Autism (2006) (8)
- Genome-wide association analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people (2021) (7)
- SHANK2 Mutations Result in Dysregulation of the ERK1/2 Pathway in Human Induced Pluripotent Stem Cells-Derived Neurons and Shank2(−/−) Mice (2021) (7)
- Interactive Psychometrics for Autism With the Human Dynamic Clamp: Interpersonal Synchrony From Sensorimotor to Sociocognitive Domains (2020) (7)
- Mitochondrial DNA inheritance in patients with deleted mtDNA (2001) (7)
- Heterozygous FA2H mutations in autism spectrum disorders (2013) (7)
- Neurobiological Correlates of Change in Adaptive Behavior in Autism. (2022) (7)
- Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders (2021) (7)
- Attenuated Anticipation of Social and Monetary Rewards in Autism Spectrum Disorders (2020) (7)
- Improving heritability estimation by a variable selection approach in sparse high dimensional linear mixed models (2015) (6)
- Spontaneous social communication in laboratory mice - placing ultrasonic vocalizations in their behavioral context (2020) (6)
- Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome. (2023) (6)
- The Link Between Autism and Sex-Related Neuroanatomy, and Associated Cognition and Gene Expression. (2022) (6)
- Three-dimensional Quantification of Dendritic Spines from Pyramidal Neurons Derived from Human Induced Pluripotent Stem Cells. (2015) (6)
- Neuroanatomical diversity of corpus callosum and brain volume in the Autism Brain Imaging Data Exchange (Abide) project (2014) (6)
- Genetic markers in psychiatric genetics. (2003) (6)
- Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication (2017) (5)
- Reduced 3‐O‐methyl‐dopa levels in OCD patients and their unaffected parents is associated with the low activity M158 COMT allele (2010) (5)
- A chimeric mouse model to study human iPSC-derived neurons: the case of a truncating SHANK3 mutation (2020) (5)
- Cerebellar volume in autism: Meta-analysis and analysis of the ABIDE cohort (2017) (5)
- Synesthesia & autistic features in a large family: Evidence for spatial imagery as a common factor (2019) (5)
- Genome-wide association study of social relationship satisfaction: significant loci and correlations with psychiatric conditions (2017) (5)
- Systemizing is genetically correlated with autism and is genetically distinct from social autistic traits (2017) (5)
- Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome. (2023) (5)
- Interactive Psychometrics for Autism with the Human Dynamic Clamp: Interpersonal Synchrony from Sensory-motor to Socio-cognitive Domains (2019) (4)
- Genetic Heterogeneity Shapes Brain Connectivity in Psychiatry (2022) (4)
- Testosterone Increases the Emission of Ultrasonic Vocalizations With Different Acoustic Characteristics in Mice (2021) (4)
- Genome-wide meta-analysis of cognitive empathy: heritability, and correlates with sex, neuropsychiatric conditions and brain anatomy (2016) (4)
- Genome-wide analyses of empathy and systemizing: heritability and correlates with sex, education, and psychiatric risk (2016) (4)
- A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder (2021) (4)
- Neuropsychiatric mutations delineate functional brain connectivity dimensions contributing to autism and schizophrenia (2019) (4)
- Genetics and Epigenetics of Autism Spectrum Disorders (2012) (4)
- The functional database of the ARCHI project: Potential and perspectives (2019) (4)
- Effects-sizes of deletions and duplications on autism risk across the genome (2020) (4)
- Estimating the effect-size of gene dosage on cognitive ability across the coding genome (2020) (3)
- Increased contrast of the grey-white matter boundary in the motor, visual and auditory areas in Autism Spectrum Disorders (2019) (3)
- Stratifying the autistic phenotype using electrophysiological indices of social perception (2022) (3)
- The EU-AIMS Longitudinal European Autism Project (LEAP) (2017) (3)
- Arrythmogenic Right Ventricular Dysplasia (2016) (3)
- Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome (2019) (3)
- [Alterations in synapsis formation and function in autism disorders]. (2008) (3)
- Excitatory/inhibitory imbalance in autism: the role of glutamate and GABA gene-sets in symptoms and cortical brain structure (2021) (2)
- Unbiased analysis of mouse social behaviour using unsupervised machine learning (2017) (2)
- Consensus recommendations on Epilepsy in Phelan-McDermid syndrome. (2023) (2)
- Polygenic scores for intelligence, educational attainment and schizophrenia are differentially associated with core autism features, IQ, and adaptive behaviour in autistic individuals (2020) (2)
- Systematic detection of divergent brain proteins in human evolution and their roles in cognition (2019) (2)
- [The Human Genome Project and the genetics of infertility]. (2000) (2)
- Genes, Synapses and Autism Spectrum Disorders (2008) (2)
- Discriminant value of repetitive behaviors in families with autism spectrum disorder and obsessional compulsive disorder probands (2021) (2)
- Brain functional connectivity mirrors genetic pleiotropy in psychiatric conditions. (2022) (2)
- Atlas of functional connectivity relationships across rare and common genetic variants, traits, and psychiatric conditions (2021) (2)
- Excessive self-grooming of Shank3 mutant mice is associated with gene dysregulation and imbalance between the striosome and matrix compartments in the striatum (2022) (2)
- A framework to identify modifier genes in patients with Phelan-McDermid syndrome (2017) (2)
- Mass‐spectrometry analysis of the human pineal proteome during night and day and in autism (2020) (2)
- A Meta-Analysis of Cognitive Empathy: Heritability and Correlates of the ‘Reading the Mind in the Eyes’ Test with Psychiatric Conditions, Psychological Traits and Subcortical Volumes (2017) (2)
- [Genetics and business: in defence of free speech!]. (2007) (2)
- Mutations of the X-linked neuroligins NLGN3 and NLGN4 are associated with autism (2007) (2)
- [Y chromosome and spermatogenesis]. (1997) (1)
- [Genetic control of spermatogenesis: Y chromosome and male infertility]. (1999) (1)
- Fine-grained topographic organization within somatosensory cortex during resting-state and emotional face-matching task and its association with ASD traits (2022) (1)
- Genome wide analysis of gene dosage in 24,092 individuals shows that 10,000 genes modulate cognitive ability (2020) (1)
- Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3 (2019) (1)
- Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells (2009) (1)
- Measuring and Estimating the Effect Size of Rare Non-Recurrent Deletions and Duplications on General Intelligence (2020) (1)
- Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways (2022) (1)
- Genome-wide analyses of empathy and systemizing: correlations with psychiatric conditions, psychological traits, and education (2017) (1)
- Qualitative differences in the spatiotemporal brain states supporting configural face processing emerge in adolescence in autism (2022) (1)
- Autism spectrum disorders: heterogeneous genetic etiologies (2015) (1)
- GENETIC CORRELATES AND CONSEQUENCES OF PHENOTYPIC HETEROGENEITY IN AUTISM (2021) (1)
- The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions (2022) (1)
- 6 DIFFERENTIAL EFFECTS OF DELETIONS AND DUPLICATIONS ON AUTISM RISK ACROSS THE GENOME (2019) (1)
- Hypo- and hyper- sensory processing heterogeneity in Autism Spectrum Disorder (2021) (1)
- Processing of social and monetary rewards in autism spectrum disorders (2023) (1)
- Towards a gene-level map of resilience to genetic variants associated with autism (2021) (1)
- Association of TCF7L2 variation with single islet autoantibody expression in children (2002) (1)
- Cell Adhesion Molecules in Synaptopathies (2009) (1)
- Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities (2022) (1)
- LifeTime and improving European healthcare through cell-based interceptive medicine (2020) (1)
- Fronto-occipital Structural Disconnectivity as an Endophenotype of ASD (2015) (0)
- S.12.02 A human pluripotent stem cell-derived neuronal model for characterisation of pathways regulating the autism and schizophrenia-related gene SHANK-3 (2015) (0)
- A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder (2021) (0)
- S.01.02 Genetics of autism spectrum disorder: impact on neuroanatomy and synaptic plasticity (2017) (0)
- P.3.009 Exploration of biological circadian rhythms in a patient with autism and a loss-of-function mutation of melatonin receptor type I (2012) (0)
- Screening, Intervention and Outcome in Autism and Other Developmental Disorders: The Role of Randomized Controlled Trials (2014) (0)
- Heterozygous FA 2 H mutations in autism spectrum disorders (2013) (0)
- Scientific Summaries for Families with ASD (2017) (0)
- Supplementary Materials: Genomic architecture of human neuroanatomical diversity (2014) (0)
- The Human Genome Diversity and the Susceptibility to Autism Spectrum Disorders (2013) (0)
- Identification and validation of biomarkers for Autism Spectrum Disorders: towards a shared understanding between academia, industry and regulatory authorities (2015) (0)
- Differential neural circuitry behind autism subtypes with imbalanced social-communicative and restricted repetitive behavior symptoms (2020) (0)
- Patterns of connectome variability in autism across five functional activation tasks: findings from the LEAP project (2022) (0)
- 50. Brain Abnormalities in Children With Early-Onset Anorexia (2023) (0)
- SA47 QUANTIFYING THE EFFECT OF COPY-NUMBER VARIANTS ON GENERAL INTELLIGENCE IN UNSELECTED POPULATIONS (2019) (0)
- Vitamin D in the General Population of Young Adults with Autism in the Faroe Islands (2014) (0)
- Both rare and common genetic variants contribute to autism in the Faroe Islands (2019) (0)
- What Do We Know about Early Onset Neurodevelopmental Disorders (2015) (0)
- Contents Vol. 135, 2011 (2011) (0)
- The role of rare compound heterozygous events in autism spectrum disorder (2020) (0)
- The link between autism and sex-specific neuroanatomy, and associated cognition and gene expression (2022) (0)
- Unsupervised analysis of mouse social behaviour reveals how hyperactivity impacts social aspects in a mouse model of autism (2018) (0)
- 40 MAPPING THE EFFECT-SIZE OF GENE DOSAGE ON GENERAL INTELLIGENCE ACROSS THE GENOME (2019) (0)
- 4 Neurodevelopmental Disorders What Is to Be Done ? (2015) (0)
- Meta-analysis is Consistent With Dopaminergic Perceptual and Cognitive Prediction Errors (2020) (0)
- 5 DIFFERENCES IN THE GENETIC BACKGROUND CONTRIBUTE TO RISK AND RESILIENCE TO AUTISM (2019) (0)
- P.125 Attention deficit hyperactivity disorder modulates the association between genetic liability to autism and subcortical structure (2020) (0)
- Scientific Summaries for Families with ASD (2017) (0)
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2011) (0)
- Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levels in patients with autism spectrum disorders (2017) (0)
- Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome (2019) (0)
- No evidence for differences in contrast of the grey-white matter boundary in Autism Spectrum Disorders: An open replication (2023) (0)
- We conducted a genome-wide meta-analysis of cognitive empathy using the ‘ Reading the Mind in the Eyes ’ Test ( Eyes (2016) (0)
- Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders (2014) (0)
- Adenomatous Polyposis, Familial (2009) (0)
- Identification of genetic interactions involved in dyslexia pathogenesis (2017) (0)
- Bilateral inferior fronto occipital and pyramidal fasciculus disconnectivity in autistic patients and their relatives: a whole brain tractography study (2014) (0)
- INCF Workshop on Genetic Disease Models of Psychiatric and Neurological Diseases (2018) (0)
- F72MEASURING AND ESTIMATING THE EFFECT SIZE OF RARE NON-RECURRENT DELETIONS AND DUPLICATIONS ON GENERAL INTELLIGENCE (2019) (0)
- Real-time analysis of the behaviour of groups of mice via a depth-sensing camera and machine learning (2019) (0)
- Publisher Correction: LifeTime and improving European healthcare through cell-based interceptive medicine (2021) (0)
- Cross-sectional and longitudinal neuroanatomical profiles of distinct clinical (adaptive) outcomes in autism. (2023) (0)
- Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations (2019) (0)
- A framework to identify contributing genes in patients with Phelan-McDermid syndrome (2017) (0)
- Genetic and Functional ascertainment of the Melatonin Pathway in Patients with Attention Deficit and Hyperactivity Disorders (2018) (0)
- Association of modifiers and other genetic factors explain Marfan syndrome clinical variability (2018) (0)
- SA19SOCIAL AND NON-SOCIAL DOMAINS OF AUTISM ARE GENETICALLY DISSOCIABLE (2019) (0)
- Andersen disease (2019) (0)
- Chapeau UK Biobank! A revolution for integrated research on humans and large-scale data sharing. (2022) (0)
- Aortic Root to Right Heart Shunts (2009) (0)
- Corrigendum: Polygenic Architecture of Human Neuroanatomical Diversity. (2020) (0)
- [The gnomAD project and the importance of having more than only one reference human genome!] (2020) (0)
- Heritability of the melatonin synthesis variability in autism spectrum disorders (2017) (0)
- Speaker 4: Noboru Hiroi, USA (2016) (0)
- Cortico-Cerebellar Neurodynamics during Social Interaction in Autism Spectrum Disorder (2022) (0)
- P.0351 Amygdala connectivity as a mediator between common genetic background for autism and social functioning (2021) (0)
- Title : Differential functional neural circuitry behind autism subtypes with marked imbalance between social-communicative and restricted repetitive behavior symptom domains (2020) (0)
- Contents page + Editorial Board (2006) (0)
- Neurobiology of autism gene products: towards pathogenesis and drug targets (2014) (0)
- SUB-DIAGNOSTIC EFFECTS OF GENETIC VARIANTS ASSOCIATED WITH AUTISM (2022) (0)
- Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology (2018) (0)
- 251. Measuring and Estimating the Effects of Rare Variants, Genome-Wide, on Cognition (2019) (0)
- Speaker 3: Elodie Ey, France (2016) (0)
- Sensory salience processing moderates attenuated gazes on faces in autism spectrum disorder: a case–control study (2023) (0)
- Sib-pair study of early onset bipolar affective disorder: Preliminary results of a genome scan (2004) (0)
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