User profiles for Elise Douard
Douard Elise AlixPh.D. Neurosciences Verified email at umontreal.ca Cited by 576 |
A framework for the investigation of rare genetic disorders in neuropsychiatry
De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity,
frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies …
frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies …
Measuring and estimating the effect sizes of copy number variants on general intelligence in community-based samples
G Huguet, C Schramm, E Douard, L Jiang… - JAMA …, 2018 - jamanetwork.com
Importance; Copy number variants (CNVs) classified as pathogenic are identified in 10% to
15% of patients referred for neurodevelopmental disorders. However, their effect sizes on …
15% of patients referred for neurodevelopmental disorders. However, their effect sizes on …
Effect sizes of deletions and duplications on autism risk across the genome
E Douard, A Zeribi, C Schramm… - American Journal of …, 2021 - Am Psychiatric Assoc
Objective: Deleterious copy number variants (CNVs) are identified in up to 20% of individuals
with autism. However, levels of autism risk conferred by most rare CNVs remain unknown. …
with autism. However, levels of autism risk conferred by most rare CNVs remain unknown. …
Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability
G Huguet, C Schramm, E Douard, P Tamer… - Molecular …, 2021 - nature.com
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 …
with neuropsychiatric disorders, but their quantitative effects on essential traits such as …
[HTML][HTML] Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia
16p11.2 and 22q11.2 Copy Number Variants (CNVs) confer high risk for Autism Spectrum
Disorder (ASD), schizophrenia (SZ), and Attention-Deficit-Hyperactivity-Disorder (ADHD), but …
Disorder (ASD), schizophrenia (SZ), and Attention-Deficit-Hyperactivity-Disorder (ADHD), but …
[HTML][HTML] Bayonet-shaped language development in autism with regression: a retrospective study
Background Language delay is one of the major referral criteria for an autism evaluation.
Once an autism spectrum diagnosis is established, the language prognosis is among the main …
Once an autism spectrum diagnosis is established, the language prognosis is among the main …
Estimating the effect size of the 15Q11. 2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
Background The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic.
Case–control studies have associated the 15q11.2 deletion with neurodevelopmental …
Case–control studies have associated the 15q11.2 deletion with neurodevelopmental …
[HTML][HTML] Effects of eight neuropsychiatric copy number variants on human brain structure
…, CO Martin, N Younis, P Tamer, E Douard… - Translational …, 2021 - nature.com
Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental
symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date …
symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date …
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence
…, Z Saci, N Younis, P Tamer, E Douard… - Nature human …, 2023 - nature.com
Copy number variations (CNVs) are rare genomic deletions and duplications that can affect
brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared …
brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared …
Similar rates of deleterious copy number variants in early-onset psychosis and autism spectrum disorder
Objective: Copy number variants (CNVs) are strongly associated with neurodevelopmental
and psychotic disorders. Early-onset psychosis (EOP), where symptoms appear before 18 …
and psychotic disorders. Early-onset psychosis (EOP), where symptoms appear before 18 …