A5031975358- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genomics and Rare Diseases
- Child Development and Digital Technology
- Circadian rhythm and melatonin
- Attention Deficit Hyperactivity Disorder
- Face Recognition and Perception
- Chromosomal and Genetic Variations
- Animal Genetics and Reproduction
- Biochemical and Molecular Research
- Cognitive Abilities and Testing
- Neuroscience and Neural Engineering
- Genomics and Chromatin Dynamics
- Family and Disability Support Research
- Pluripotent Stem Cells Research
- Advanced biosensing and bioanalysis techniques
- Obsessive-Compulsive Spectrum Disorders
- Amyotrophic Lateral Sclerosis Research
- Public Health and Nutrition
- GDF15 and Related Biomarkers
- Biochemical and Structural Characterization
- Neurogenetic and Muscular Disorders Research
- Genetic Associations and Epidemiology
Institut Pasteur
2014-2024
Centre National de la Recherche Scientifique
2014-2024
Université Paris Cité
2012-2024
Institut Universitaire de France
2024
Goethe University Frankfurt
2021-2022
University Hospital Frankfurt
2022
University of Trento
2022
Sorbonne Paris Cité
2012-2021
Délégation Paris 7
2012-2020
Laboratoire de Neurosciences Cognitives
2019
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental with complex inheritance pattern. While many rare variants in synaptic proteins have been identified patients ASD, little is known about their effects at the synapse and interactions other genetic variations. Here, following discovery two de novo SHANK2 deletions by Genome Project, we novel 421 kb deletion patient autism. We then sequenced 455 ASD 431 controls integrated these results those reported Berkel et al....
The substantial phenotypic heterogeneity in autism limits our understanding of its genetic etiology. To address this gap, here we investigated differences between autistic individuals (n
Abstract While over 100 genes have been associated with autism, little is known about the prevalence of variants affecting them in individuals without a diagnosis autism. Nor do we fully appreciate phenotypic diversity beyond formal autism diagnosis. Based on data from more than 13,000 and 210,000 undiagnosed individuals, estimated odds ratios for to rare loss-of-function (LoF) 185 alongside 2,492 displaying intolerance LoF variants. In contrast autism-centric approaches, investigated...
Abstract Autism spectrum disorders (ASD) are characterized by impairments in reciprocal social communication, and stereotyped verbal nonverbal behaviors. In approximately 10–25% of the affected individuals, a genetic mutation associated with condition can be identified. Recently, mutations altering synapse formation, cellular/synaptic growth rate regulation excitatory inhibitory currents were identified patients intellectual disability, typical autism, Asperger syndrome or neurological...
High level of organisation in sequences ultrasonic vocalisations.• Very limited sex-related variations
Abstract The core diagnostic criteria for autism comprise two symptom domains – social and communication difficulties, unusually repetitive restricted behaviour, interests activities. There is some evidence to suggest that these are dissociable, though this hypothesis has not yet been tested using molecular genetics. We test a genome-wide association study ( N = 51,564) of non-social trait related autism, systemising, defined as the drive analyse build systems. demonstrate systemising...
Mutations in NLGN4X have been identified individuals with autism spectrum disorders and other neurodevelopmental disorders. A previous study reported that adult male mice lacking neuroligin4 (Nlgn4) displayed social approach deficits the three-chambered test, altered aggressive behaviors reduced ultrasonic vocalizations. To replicate extend these findings, independent comprehensive analyses of autism-relevant behavioral phenotypes were conducted later generations same line Nlgn4 mutant at...
The number of genes associated with autism is increasing, but few studies have been performed on epidemiological cohorts and in isolated populations. Here, we investigated 357 individuals from the Faroe Islands including 36 autism, 136 their relatives 185 non-autism controls. Data SNP array whole exome sequencing revealed that had a higher burden rare exonic copy-number variants altering (deletions (p = 0.0352) or duplications 0.0352)), inbreeding status 0.023) load homozygous deleterious...
Abstract The synaptic protein SHANK3 encodes a multidomain scaffold expressed at the postsynaptic density of neuronal excitatory synapses. We previously identified de novo mutations in patients with autism spectrum disorders (ASD) and showed that represents one major genes for ASD. Here, we analyzed pyramidal cortical neurons derived from induced pluripotent stem cells four ASD carrying truncating mutations. At 40–45 days after differentiation neural cells, dendritic spines presented...
Objective: Autism spectrum disorder (ASD) is accompanied by highly individualized neuroanatomical deviations that potentially map onto distinct genotypes and clinical phenotypes. This study aimed to link differences in brain anatomy specific biological pathways pave the way toward targeted therapeutic interventions. Methods: The authors examined neurodevelopmental cortical thickness their genomic underpinnings a large clinically diverse sample of 360 individuals with ASD 279 typically...
Melatonin is a powerful antioxidant and synchronizer of many physiological processes. Alteration in melatonin signaling has been reported broad range diseases, but little known about the genetic variability this pathway humans. Here, we sequenced all genes -AA-NAT, ASMT, MTNR1A, MTNR1B GPR50 - 321 individuals from Sweden including 101 patients with attention-deficit/hyperactivity disorder (ADHD) 220 controls general population. We could find several damaging mutations ADHD, no significant...
Objective: Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition that associated with significant difficulties in adaptive behavior and variation clinical outcomes across the life span. Some individuals ASD improve, whereas others may not change significantly, or regress. Hence, development of “personalized medicine” approaches essential. However, this requires an understanding biological processes underpinning differences outcome, at both individual subgroup levels,...
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by difficulties in social communication, but also great heterogeneity. To offer individualized medicine approaches, we need to better target interventions stratifying autistic people into subgroups with different biological profiles and/or prognoses. We sought validate neural responses faces as potential stratification factor ASD measuring (electroencephalography) (critical interaction) N = 436 children and adults...
Abstract Autism Spectrum Disorders (ASD) are heterogeneous neurodevelopmental disorders with a complex genetic architecture. They characterized by impaired social communication, stereotyped behaviors and restricted interests frequently associated comorbidities such as intellectual disability, epilepsy severe sleep disorders. Hyperserotonemia low melatonin levels among the most replicated endophenotypes reported in ASD, but their causes remain largely unknown. Based on biochemical profile of...
Abstract Individuals with autism spectrum disorder (henceforth referred to as autism) display significant variation in clinical outcome. For instance, across age, some individuals’ adaptive skills naturally improve or remain stable, while others’ decrease. To pave the way for ‘precision-medicine’ approaches, it is crucial identify cross-sectional and, given developmental nature of autism, longitudinal neurobiological (including neuroanatomical and linked genetic) correlates this variation....
Background Autism spectrum disorders (ASD) are a group of severe childhood neurodevelopmental with still unknown etiology. One the most frequently reported associations is presence recurrent de novo or inherited microdeletions and microduplications on chromosome 16p11.2. The analysis rare variations 8 candidate genes among 27 located in this region suggested SEZ6L2 as compelling candidate. Methodology/Principal Findings We further explored role by screening its coding part 452 individuals,...
Jacobsen syndrome (JS) is characterized by intellectual disability and higher risk for autism spectrum disorders (ASD). All patients with JS are carriers of contiguous de novo deletions 11q24.2‐25, but the causative genes remain unknown. Within critical interval, we hypothesized that haploinsufficiency neuronal cell adhesion molecule Neurotrimin (NTM) might increase ASD could affect brain structure volumes. We searched deleterious mutations affecting NTM in 1256 1287 controls, using SNP...
Abstract Hyperserotonemia is the most replicated biochemical abnormality associated with autism spectrum disorders (ASD). However, previous studies of serotonin synthesis, catabolism, and transport have not elucidated mechanisms underlying this hyperserotonemia. Here we investigated sulfation by phenol sulfotransferases (PST) in blood samples from 97 individuals ASD their first-degree relatives (138 parents 56 siblings), compared 106 controls. We report a deficient activity both PST isoforms...
Autism is a common neurodevelopmental condition with complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs could be served by genomics-informed research clinical trials. The primary aim of the European GEnomics Registry (EAGER) to establish registry participants diagnosis autism or an associated rare who undergone whole-genome sequencing. can facilitate recruitment for future trials studies, based on...