Charles-Olivier Martin
A5032826629- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genomics and Rare Diseases
- Functional Brain Connectivity Studies
- Fetal and Pediatric Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Hemispheric Asymmetry in Neuroscience
- Gene expression and cancer classification
- Fractal and DNA sequence analysis
- Genetic Associations and Epidemiology
- Autism Spectrum Disorder Research
- Morphological variations and asymmetry
- Neurobiology of Language and Bilingualism
- Advanced MRI Techniques and Applications
- BRCA gene mutations in cancer
- Medical and Biological Sciences
- Cognitive Abilities and Testing
- Advanced Battery Technologies Research
- Congenital Heart Disease Studies
- Reading and Literacy Development
- Advanced Neuroimaging Techniques and Applications
- Machine Learning in Healthcare
- Coronary Artery Anomalies
- Aging and Gerontology Research
Centre Hospitalier Universitaire Sainte-Justine
2020-2025
University of California, San Diego
2023
Maastricht University
2023
University of California, Los Angeles
2023
California University of Pennsylvania
2023
Cardiff University
2023
Université de Montréal
2018-2023
Institut Universitaire de Gériatrie de Montréal
2018
Abstract Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs large effects on brain anatomy. Here, we aimed characterize quantify distinct morphometry latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically non-clinically ascertained CNV...
Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for multiple neurodevelopmental and psychiatric disorders (NPDs), including autism (ASD) schizophrenia. Little is known about how different CNVs conferring the same condition may affect subcortical brain structures these alterations relate to level of disease conferred by CNVs. To fill this gap, authors investigated gross volume, vertex-level thickness, surface maps in 11 six NPDs.
Abstract Research has shown that many copy number variations (CNVs) increase the risk of neurodevelopmental disorders (e.g., autism, ADHD, schizophrenia). However, little is known about effects CNVs on brain development and function. Resting-state electroencephalography (EEG) a suitable method to study disturbances neuronal functioning in CNVs. We aimed determine whether there are resting-state EEG signatures characteristic children with pathogenic activity 109 CNV carriers (66 deletion...
Genetic studies have identified common and rare variants increasing the risk for neurodevelopmental psychiatric disorders (NPDs). These also been shown to influence structure of cerebral cortex. However, it is unknown whether cortical differences associated with genetic are linked they confer NPDs. To answer this question, we analyzed thickness (CT) surface area (SA) NPDs, in ~33000 individuals from general population clinical cohorts, as well ENIGMA summary statistics 8 Rare NPDs were...
Abstract Asymmetry between the left and right hemisphere is a key feature of brain organization. Hemispheric functional specialization underlies some most advanced human-defining cognitive operations, such as articulated language, perspective taking, or rapid detection facial cues. Yet, genetic investigations into asymmetry have mostly relied on common variants, which typically exert small effects brain-related phenotypes. Here, we leverage rare genomic deletions duplications to study how...
Abstract There is a growing interest in using machine learning (ML) models to perform automatic diagnosis of psychiatric conditions; however, generalising the prediction ML completely independent data can lead sharp decrease performance. Patients with different diagnoses have traditionally been studied independently, yet there recognition neuroimaging signatures shared across them as well rare genetic copy number variants (CNVs). In this work, we assess potential multi-task (MTL) improve...
Discourse comprehension is at the core of communication capabilities, making it an important component elderly populations' quality life. The aim this study to evaluate changes in discourse and underlying brain activity. Thirty-six participants read short stories answered related probes three conditions: micropropositions, macropropositions situation models. Using NIRS, variation HbO2 HbR concentrations was assessed throughout task. results revealed that older adults performed with...
Introduction: Fragile X syndrome (FXS) is a genetic disorder caused by mutation of the fragile mental retardation 1 gene ( FMR1 ). FXS associated with neurophysiological abnormalities, including cortical hyperexcitability. Alterations in electroencephalogram (EEG) resting-state power spectral density (PSD) are well-defined and were found to be linked neurodevelopmental delays. Whether non-linear dynamics brain signal also altered remains studied. Methods: In this study, EEG power, alpha peak...
Investigating the relationships between two sets of variables helps to understand their interactions and can be done with canonical correlation analysis (CCA). However, sometimes depend on a third set covariates, often subject-related ones such as age, gender or other clinical measures. In this case, applying CCA whole population is not optimal methods estimate conditional CCA, given useful.We propose new method called Random Forest Canonical Correlation Analysis (RFCCA) correlations...
Abstract Asymmetry between the left and right brain is a key feature of organization. Hemispheric functional specialization underlies some most advanced human-defining cognitive operations, such as articulated language, perspective taking, or rapid detection facial cues. Yet, genetic investigations into asymmetry have mostly relied on common variant studies, which typically exert small effects phenotypes. Here, we leverage rare genomic deletions duplications to study how alterations...
Rare recurrent copy number variants (CNVs) at chromosomal loci 22q11.2 and 16p11.2 are among the most common rare genetic disorders associated with significant risk for neuropsychiatric across lifespan. Microdeletions duplications in these neurocognitive deficits, yet there few studies comparing groups using same measures. We address this gap a prospective international collaboration applying computerized assessment. The Penn Computerized Neurocognitive Battery (CNB) was administered...
Abstract Polygenicity and pleiotropy are key properties of the genomic architecture psychiatric disorders. An optimistic interpretation polygenicity is that variants converge on a limited set mechanisms at some level from genes to behavior. Alternatively, convergence may be minimal or absent. We took advantage brain connectivity, measured by resting-state functional MRI (rs- fMRI), as well rare common understand effects large-scale networks, distal step processed ten rs-fMRI datasets...
Abstract Copy number variations (CNVs) are rare genomic deletions and duplications that can exert profound effects on brain behavior. Previous reports of pleiotropy in CNVs imply they converge shared mechanisms at some level pathway cascades, from genes to large-scale neural circuits the phenome. However, studies date have primarily examined single CNV loci small clinical cohorts. It remains unknown how distinct escalate risk for same developmental psychiatric disorders. Here, we...
Abstract Background: Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning quality of life. FXS is the most common cause inherited intellectual disability (ID) monogenetic ASD. Previous literature has shown electrophysiological activity measured by electroencephalogram (EEG) during resting state perturbated in However, whether profiles participants with ASD similar remains unclear. The aim this...
Abstract Background Copy Number Variants (CNVs) associated with autism and schizophrenia have large effects on brain anatomy. Yet, neuroimaging studies been conducted one mutation at a time. We hypothesize that neuropsychiatric CNVs may exert general morphometry because they confer risk for overlapping psychiatric conditions. Methods analyzed T1-weighted MRIs characterized shared patterns anatomy across 8 CNVs. Clinically ascertained samples included 1q21.1 (n=48), 16p11.2 (n=156), or...
ABSTRACT Genomic Copy Number Variants (CNVs) are routinely identified and reported back to patients with neuropsychiatric disorders, but their quantitative effects on essential traits such as cognitive ability poorly documented. We have recently shown that the effect-size of deletions can be statistically predicted using measures intolerance haploinsufficiency. However, effect-sizes duplications remain unknown. It is also unknown if effect multigenic CNVs driven by a few genes intolerant...
Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for multiple neurodevelopmental and psychiatric disorders (NPDs) including autism (ASD) schizophrenia (SZ). Overall, little is known about how different CNVs conferring the same condition may affect subcortical brain structures these alterations relate to level of disease conferred by CNVs. To fill this gap, we investigated gross volume, vertex thickness surface maps in 11 6 NPDs.
Abstract Research has shown that many copy number variations (CNVs) increase the risk of neurodevelopmental disorders (e.g., autism, ADHD, schizophrenia). However, little is known about effects CNVs on brain development and function. Resting-state electroencephalography (EEG) a suitable method to study disturbances neuronal functioning in CNVs. We aimed determine whether there are resting-state EEG signatures characteristic children with pathogenic activity 109 carriers (66 deletion...