A5086487327- Autism Spectrum Disorder Research
- Functional Brain Connectivity Studies
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Medical Image Segmentation Techniques
- Evolution and Paleontology Studies
- Health, Environment, Cognitive Aging
- Genetics, Bioinformatics, and Biomedical Research
- Obsessive-Compulsive Spectrum Disorders
- Radiomics and Machine Learning in Medical Imaging
- Morphological variations and asymmetry
- Comparative Animal Anatomy Studies
- Hearing, Cochlea, Tinnitus, Genetics
- Biomedical and Engineering Education
- Genomics and Phylogenetic Studies
- Birth, Development, and Health
- Child Nutrition and Feeding Issues
- Genomics and Rare Diseases
- Neonatal and fetal brain pathology
- Circadian rhythm and melatonin
- Genetic and phenotypic traits in livestock
- Williams Syndrome Research
- Child Abuse and Trauma
- Gene expression and cancer classification
Institut Pasteur
2017-2024
Université Paris Cité
2019-2024
Centre National de la Recherche Scientifique
2017-2024
Foundation for Human Potential
2023
Roche (Switzerland)
2023
Center for Research and Interdisciplinarity
2021-2022
Institut des Sciences Cognitives Marc Jeannerod
2021
Sorbonne Paris Cité
2019
Délégation Paris 7
2019
Institut de Biologie Paris-Seine
2017
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...
MRI has been extensively used to identify anatomical and functional differences in Autism Spectrum Disorder (ASD). Yet, many of these findings have proven difficult replicate because studies rely on small cohorts are built complex, undisclosed, analytic choices. We conducted an international challenge predict ASD diagnosis from data, where we provided preprocessed data > 2,000 individuals. Evaluation the predictions was rigorously blinded. 146 challengers submitted prediction algorithms,...
The process of brain folding is thought to play an important role in the development and organisation cerebrum cerebellum. study cerebellar challenging due small size abundance its folia. In consequence, little known about anatomical diversity evolution. We constituted open collection histological data from 56 mammalian species manually segmented developed methods measure geometry folia estimate thickness molecular layer. used phylogenetic comparative evolution relationship with anatomy...
While low plasma melatonin, a neuro-hormone synthesized in the pineal gland, has been frequently associated with autism, our understanding of mechanisms behind it have remained unclear. In this exploratory study, we hypothesized that melatonin levels ASD could be linked to decrease gland volume (PGV). PGV estimates magnetic resonance imaging (MRI) voxel-based volumetric measurement method and early morning were evaluated for 215 participants, including 78 individuals ASD, 90 unaffected...
We analyzed the genomic architecture of neuroanatomical diversity using magnetic resonance imaging and single nucleotide polymorphism (SNP) data from >26 000 individuals UK Biobank project 5 other projects that had previously participated in ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) consortium. Our results confirm polygenic diversity, with SNPs capturing 40% to 54% regional brain volume variance. Chromosomal length correlated amount phenotypic variance captured, r ~ 0.64...
Abstract Background Repetitive and restricted behaviors interests (RRBI) are core symptoms of autism with a complex entity commonly categorized into ‘motor-driven’ ‘cognitively driven’. RRBI symptomatology depends on the individual’s clinical environment limiting understanding physiology, particularly their associated neuroanatomical structures. The heterogeneity needs to explore whole spectrum by integrating context [autistic individuals, relatives typical developing (TD) individuals]. We...
Abstract Background Early-onset restrictive eating disorders (rEO-ED) encompass a heterogeneous group of conditions, including early-onset anorexia nervosa (EO-AN) and avoidant food intake (ARFID). Almost nothing is known about the consequences rEO-ED on brain development. Methods We performed largest comparison MRI-derived features in children early adolescents (<13 years) with EO-AN (n=124), ARFID (n=50), typically developing individuals (TD, n=112). Results Despite similar body mass...
Bioinformatics is a field known for the numerous standards and formats that have been developed over years. This plethora of formats, sometimes complementary, often redundant, poses many challenges to bioinformatics data analysts. They constantly need find best tool convert their into suitable format, which complex, technical time consuming task. Moreover, these small yet important tasks are difficult make reproducible. To overcome difficulties, we initiated BioConvert, collaborative project...
Abstract Cerebellar volume abnormalities have been often suggested as a possible endophenotype for autism spectrum disorder (ASD). We aimed at objectifying this alteration by performing systematic meta-analysis of the literature, and an analysis Autism Brain Imaging Data Exchange (ABIDE) cohort. Our sought to determine combined effect size ASD diagnosis on different measures cerebellar anatomy, well factors variability across studies. then analysed 328 patients 353 controls from ABIDE...
Abstract We analysed the genomic architecture of neuroanatomical diversity using magnetic resonance imaging and single nucleotide polymorphism (SNP) data from >26,000 individuals UK Biobank project 5 other projects that had previously participated in ENIGMA consortium. Our results confirm polygenic diversity, with SNPs capturing 40% to 54% regional brain volume variance. Chromosomal length correlated amount phenotypic variance captured, r∼0.64 on average, suggesting at a global scale...
Abstract The contrast of the interface between cortical grey matter and white is emerging as an important neuroimaging biomarker for several brain disorders. Differences in to could be related abnormalities neuronal migration or intra-cortical myelination, are appealing ASD. Two previous studies have reported differences patients with autism spectrum disorder non-autistic controls. We aimed at replicating this finding using open data from ABIDE initiative, phases 1 2, gathering 2,148...
Abstract The process of brain folding is thought to play an important role in the development and organisation cerebrum cerebellum. study cerebellar challenging due small size abundance its folia. In consequence, little known about anatomical diversity evolution. We constituted open collection histological data from 56 mammalian species manually segmented developed methods measure geometry folia estimate thickness molecular layer. used phylogenetic comparative evolution relationship with...
Brain extraction and segmentation are the first step for most neuroimaging analyses.Automatic methods work well in adult human brains, but produce unreliable results non-human data, due to muscle tissue, skull, luminosity gradients.Thresholdmann (https://neuroanatomy.github.io/thresholdmann) is an open source Web tool interactive application of spacevarying thresholds Nifti volumes.No download or installation required all processing done on user's computer.Nifti volumes dragged dropped onto...
Abstract Background. Repetitive and restricted behaviors interests (RRBI) are core symptoms of autism with a complex entity commonly categorized into ‘motor-driven’ ‘cognitively-driven’. RRBI symptomatology depends on the individual’s clinical environment limiting understanding physiology, particularly their associated neuroanatomical structures. The heterogeneity needs to explore whole spectrum by integrating context (autistic individuals, relatives typical developing (TD) individuals). We...
Introduction The most commonly used effect size when using meta-analysis to compare a measurement of interest in two different populations is the standardised mean difference. This difference divided by pooled standard deviation groups. usually supposed be same for both groups, although this assumption often made without any particular evidence. It possible, however, that resides precisely their deviations. could case, example, if population patients exhibited more “abnormal” values than...
ABSTRACT While over a hundred genes are significantly associated with autism, little is known about the prevalence of variants affecting them in general population. Nor do we fully appreciate phenotypic diversity beyond formal autism diagnosis. Using data from more than 13,000 autistic individuals and 210,000 undiagnosed individuals, provide gene-level map odds ratio for to rare loss-of-function (LoF) 185 robustly alongside 2,492 displaying intolerance LoF variants. In contrast...
Abstract MRI has been extensively used to identify anatomical and functional differences in Autism Spectrum Disorder (ASD). Yet, many of these findings have proven difficult replicate because studies rely on small cohorts are built complex, undisclosed, analytic choices. We conducted an international challenge predict ASD diagnosis from data, where we provided preprocessed data > 2,000 individuals. Evaluation the predictions was rigorously blinded. 146 challengers submitted prediction...
A bstract Bioinformatics is a field known for the numerous standards and formats that have been developed over years. This plethora of formats, sometimes complementary, often redundant, poses many challenges to bioinformatics data analysts. They constantly need find best tool convert their into suitable format, which complex, technical time consuming task. Moreover, these small yet important tasks are difficult make reproducible. To over-come difficulties, we initiated BioConvert ,...
Abstract There is increasing evidence of shared genetic factors between psychiatric disorders and brain magnetic resonance imaging (MRI) phenotypes. However, deciphering the joint architecture these outcomes has proven challenging, new approaches are needed to infer potential structure underlying those Here, we demonstrate how multivariate analyses can help reveal links MRI phenotypes missed by univariate approaches. We first conducted genome-wide association studies (GWAS) for eight...