Claire S. Leblond
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View article: LEAP-InovAND a multiscale resource to explore genetics, brain imaging and clinical data in autism
LEAP-InovAND a multiscale resource to explore genetics, brain imaging and clinical data in autism Open
Most current autism research focuses on categorical comparisons (e.g., autistic vs. neurotypical people) and usually examines only one biological domain (e.g., cognition, genetics, or brain imaging). Here, we present a comprehensive resour…
View article: A Genetic Bridge Between Medicine and Neurodiversity for Autism
A Genetic Bridge Between Medicine and Neurodiversity for Autism Open
Autism represents a large spectrum of diverse individuals with varying underlying genetic architectures and needs. For some individuals, a single de novo or ultrarare genetic variant has a large effect on the intensity of specific dimensio…
View article: European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry Open
Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomi…
View article: Phenotypic effects of genetic variants associated with autism
Phenotypic effects of genetic variants associated with autism Open
View article: Cross-sectional and longitudinal neuroanatomical profiles of distinct clinical (adaptive) outcomes in autism
Cross-sectional and longitudinal neuroanatomical profiles of distinct clinical (adaptive) outcomes in autism Open
View article: Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome Open
View article: Stratifying the autistic phenotype using electrophysiological indices of social perception
Stratifying the autistic phenotype using electrophysiological indices of social perception Open
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 by st…
View article: Qualitative differences in the spatiotemporal brain states supporting configural face processing emerge in adolescence in autism
Qualitative differences in the spatiotemporal brain states supporting configural face processing emerge in adolescence in autism Open
View article: Genetic correlates of phenotypic heterogeneity in autism
Genetic correlates of phenotypic heterogeneity in autism Open
The substantial phenotypic heterogeneity in autism limits our understanding of its genetic etiology. To address this gap, here we investigated genetic differences between autistic individuals ( n max = 12,893) based on core and associated …
View article: Neurobiological Correlates of Change in Adaptive Behavior in Autism
Neurobiological Correlates of Change in Adaptive Behavior in Autism Open
This study demonstrates, for the first time, that variation in clinical (adaptive) outcome is associated with both group- and individual-level variation in anatomy of brain regions enriched for genes relevant to ASD. This may facilitate th…
View article: Hypo- and hyper- sensory processing heterogeneity in Autism Spectrum Disorder
Hypo- and hyper- sensory processing heterogeneity in Autism Spectrum Disorder Open
Background. Sensory processing atypicalities are part of the core symptoms of autism spectrum disorder (ASD) and could result from an excitation/inhibition imbalance. Yet, the convergence level of phenotypic sensory processing atypicalitie…
View article: GENETIC CORRELATES AND CONSEQUENCES OF PHENOTYPIC HETEROGENEITY IN AUTISM
GENETIC CORRELATES AND CONSEQUENCES OF PHENOTYPIC HETEROGENEITY IN AUTISM Open
View article: Interindividual Differences in Cortical Thickness and Their Genomic Underpinnings in Autism Spectrum Disorder
Interindividual Differences in Cortical Thickness and Their Genomic Underpinnings in Autism Spectrum Disorder Open
The study findings corroborate the link between macroscopic differences in brain anatomy and the molecular mechanisms underpinning heterogeneity in ASD, and provide future targets for stratification and subtyping.
View article: Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders
Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders Open
View article: Genetic correlates of phenotypic heterogeneity in autism
Genetic correlates of phenotypic heterogeneity in autism Open
The substantial phenotypic heterogeneity in autism limits our understanding of its genetic aetiology. To address this gap, we investigated genetic differences between autistic individuals (N max = 12,893) based on core (i.e., social commun…
View article: Social and non-social autism symptoms and trait domains are genetically dissociable
Social and non-social autism symptoms and trait domains are genetically dissociable Open
View article: Social and non-social autism symptoms and trait domains are genetically dissociable
Social and non-social autism symptoms and trait domains are genetically dissociable Open
The results leading to this publication have received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 777394 for the project AIMS-2-TRIALS. This Joint Undertaking receives support from the Euro…
View article: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome Open
View article: Both rare and common genetic variants contribute to autism in the Faroe Islands
Both rare and common genetic variants contribute to autism in the Faroe Islands Open
View article: Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations
Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations Open
View article: Genetic and Functional ascertainment of the Melatonin Pathway in Patients with Attention Deficit and Hyperactivity Disorders
Genetic and Functional ascertainment of the Melatonin Pathway in Patients with Attention Deficit and Hyperactivity Disorders Open
Sleep wake cycles are frequently disturbed in patients with Attention Deficit and Hyperactivity Disorders. We hypothesized that the origin of the sleep problems may be the consequence of an abnormal circadian clock setting regulated by the…
View article: Both rare and common genetic variants contribute to autism in the Faroe Islands
Both rare and common genetic variants contribute to autism in the Faroe Islands Open
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 individuals wit…
View article: Heritability of the melatonin synthesis variability in autism spectrum disorders
Heritability of the melatonin synthesis variability in autism spectrum disorders Open
View article: Social and non-social autism symptom and trait domains are genetically dissociable
Social and non-social autism symptom and trait domains are genetically dissociable Open
The core diagnostic criteria for autism comprise two symptom domains – social and communication difficulties, and unusually repetitive and restricted behaviour, interests and activities. There is some evidence to suggest that these two dom…
View article: 11q24.2‐25 micro‐rearrangements in autism spectrum disorders: Relation to brain structures
11q24.2‐25 micro‐rearrangements in autism spectrum disorders: Relation to brain structures Open
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 of 11q24.2‐25, but the causative genes remain unknown…