Search Results - "BOURGERON, Thomas"
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From the genetic architecture to synaptic plasticity in autism spectrum disorder
Published in Nature reviews. Neuroscience (01-09-2015)“…Key Points Twin and familial studies reveal that autism spectrum disorder (ASD) traits are highly heritable. The genetic landscape of ASD is made of common and…”
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Current knowledge on the genetics of autism and propositions for future research
Published in Comptes rendus. Biologies (01-07-2016)“…Autism spectrum disorders (ASD) are a heterogeneous group of neuropsychiatric disorders characterized by problems in social communication, as well as by the…”
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The emerging role of SHANK genes in neuropsychiatric disorders
Published in Developmental neurobiology (Hoboken, N.J.) (01-02-2014)“…ABSTRACT The genetic heterogeneity of neuropsychiatric disorders is high, but some pathways emerged, notably synaptic functioning. A large number of mutations…”
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The Genetic Landscapes of Autism Spectrum Disorders
Published in Annual review of genomics and human genetics (01-01-2013)“…The autism spectrum disorders (ASD) are characterized by impairments in social interaction and stereotyped behaviors. For the majority of individuals with ASD,…”
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Progress toward treatments for synaptic defects in autism
Published in Nature Medicine (01-06-2013)“…Autism spectrum disorders (ASDs) are a clinically heterogeneous group of neurodevelopmental disorders characterized by social and communication deficits and…”
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Searching for ways out of the autism maze : genetic, epigenetic and environmental clues
Published in Trends in neurosciences (Regular ed.) (01-07-2006)“…Our understanding of human disorders that affect higher cognitive functions has greatly advanced in recent decades, and over 20 genes associated with…”
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HyPyP: a Hyperscanning Python Pipeline for inter-brain connectivity analysis
Published in Social cognitive and affective neuroscience (18-01-2021)“…Abstract The bulk of social neuroscience takes a ‘stimulus-brain’ approach, typically comparing brain responses to different types of social stimuli, but most…”
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Cerebellar Volume in Autism: Literature Meta-analysis and Analysis of the Autism Brain Imaging Data Exchange Cohort
Published in Biological psychiatry (1969) (01-04-2018)“…The neuroanatomical bases of autism spectrum disorder remain largely unknown. Among the most widely discussed candidate endophenotypes, differences in…”
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Adult male mice emit context-specific ultrasonic vocalizations that are modulated by prior isolation or group rearing environment
Published in PloS one (06-01-2012)“…Social interactions in mice are frequently analysed in genetically modified strains in order to get insight of disorders affecting social interactions such as…”
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Fragile X syndrome and autism at the intersection of genetic and neural networks
Published in Nature neuroscience (01-10-2006)“…Autism, an entirely behavioral diagnosis with no largely understood etiologies and no population-wide biomarkers, contrasts with fragile X syndrome (FXS), a…”
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Gender differences in autism spectrum disorders: Divergence among specific core symptoms
Published in Autism research (01-04-2017)“…Community‐based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this…”
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Insights from an autism imaging biomarker challenge: Promises and threats to biomarker discovery
Published in NeuroImage (Orlando, Fla.) (15-07-2022)“…MRI has been extensively used to identify anatomical and functional differences in Autism Spectrum Disorder (ASD). Yet, many of these findings have proven…”
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Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levels in patients with autism spectrum disorders
Published in Scientific reports (18-05-2017)“…Autism spectrum disorders (ASD) are characterized by a wide genetic and clinical heterogeneity. However, some biochemical impairments, including decreased…”
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Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism
Published in Proceedings of the National Academy of Sciences - PNAS (05-02-2008)“…Autism spectrum conditions (ASCs) are heritable conditions characterized by impaired reciprocal social interactions, deficits in language acquisition, and…”
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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
Published in Frontiers in behavioral neuroscience (13-10-2021)“…Ultrasonic vocalizations (USVs) are used as a phenotypic marker in mouse models of neuropsychiatric disorders. Nevertheless, current methodologies still…”
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Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Published in European journal of human genetics : EJHG (01-12-2018)“…Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder related to variants in the FBN1 gene. Prognosis is related to aortic risk of…”
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Phelan-McDermid syndrome: a classification system after 30 years of experience
Published in Orphanet journal of rare diseases (29-01-2022)“…Phelan-McDermid syndrome (PMS) was initially called the 22q13 deletion syndrome based on its etiology as a deletion of the distal long arm of chromosome 22…”
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Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia
Published in Nature communications (19-10-2020)“…16p11.2 and 22q11.2 Copy Number Variants (CNVs) confer high risk for Autism Spectrum Disorder (ASD), schizophrenia (SZ), and…”
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Behavioral profiles of mouse models for autism spectrum disorders
Published in Autism research (01-02-2011)“…Autism spectrum disorders (ASD) are characterized by impairments in reciprocal social communication, and stereotyped verbal and nonverbal behaviors. In…”
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Development of an autism severity score for mice using Nlgn4 null mutants as a construct-valid model of heritable monogenic autism
Published in Behavioural brain research (15-08-2013)“…► Loss-of-function mutations of NLGN4X are the most frequent monogenic autism cause. ► Nlgn4KO mice show reduced social functions/communication and increased…”
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