Harnessing rare variants in neuropsychiatric and neurodevelopment disorders—a Keystone Symposia report
J Cable, RH Purcell, E Robinson… - Annals of the New …, 2021 - Wiley Online Library
Neurodevelopmental neuropsychiatric disorders, such as autism spectrum disorder and
schizophrenia, have strong genetic risk components, but the underlying mechanisms have …
schizophrenia, have strong genetic risk components, but the underlying mechanisms have …
High-effect gene-coding variants impact cognition, mental well-being, and neighborhood safety substrates in brain morphology
J Kopal, G Huguet, J Marotta, S Aggarwal, N Osayande… - medRxiv, 2024 - medrxiv.org
Our genetic makeup, together with environmental and social influences, shape our brain's
development. Yet, the imaging genetics field has struggled to integrate all these modalities …
development. Yet, the imaging genetics field has struggled to integrate all these modalities …
Psychometric perspectives on developmental outcome and endpoint selection in treatment trials for genetic conditions associated with neurodevelopmental disorder
Abstract Development in domains like motor ability, thinking and learning, social abilities,
and communication are important areas of concern for individuals affected by genetic …
and communication are important areas of concern for individuals affected by genetic …
Unraveling the Link between CNVs, General Cognition, and Individual Neuroimaging Deviation Scores from a Reference Cohort
Copy number variations (CNVs) are genetic variants that can have a substantial influence
on neurodevelopment, neuropsychiatric traits, and morphometric brain changes, yet their …
on neurodevelopment, neuropsychiatric traits, and morphometric brain changes, yet their …
Neuroligins in neurodevelopmental conditions: how mouse models of de novo mutations can help us link synaptic function to social behavior
TT Pohl, H Hörnberg - Neuronal Signaling, 2022 - portlandpress.com
Neurodevelopmental conditions (or neurodevelopmental disorders, NDDs) are highly
heterogeneous with overlapping characteristics and shared genetic etiology. The large …
heterogeneous with overlapping characteristics and shared genetic etiology. The large …
Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions
Although rare neurodevelopmental conditions have a large Mendelian component, common
genetic variants also contribute to risk. However, little is known about how this polygenic risk …
genetic variants also contribute to risk. However, little is known about how this polygenic risk …
Rapid assessment of the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in Caenorhabditis elegans
LD Kepler, TA McDiarmid… - Disease models & …, 2022 - journals.biologists.com
Recent studies have indicated that some phenotypes caused by decreased function of
select neurodevelopmental disorder (NDD) risk genes can be reversed by restoring gene …
select neurodevelopmental disorder (NDD) risk genes can be reversed by restoring gene …
Early-Onset Psychosis and Autism Spectrum Disorder: Similar Rates of Deleterious Copy Number Variants, Yet Diverse Phenotypic Manifestations
DH Skuse - American Journal of Psychiatry, 2022 - Am Psychiatric Assoc
There is long-standing evidence that in adults a genetic overlap exists in risk between
autism spectrum disorder (ASD), schizophrenia, and intellectual disability (1, 2). A range of …
autism spectrum disorder (ASD), schizophrenia, and intellectual disability (1, 2). A range of …
[HTML][HTML] X-vs. Y-Chromosome Influences on Human Behavior: A Deep Phenotypic Comparison of Psychopathology in XXY and XYY Syndromes
L Schaffer, S Rau, L Clasen, A Warling, ET Whitman… - medRxiv, 2023 - ncbi.nlm.nih.gov
Do different genetic disorders impart different psychiatric risk profiles? This question has
major implications for biological and translational aspects of psychiatry, but has been difficult …
major implications for biological and translational aspects of psychiatry, but has been difficult …
Challenges in Multi-Task Learning for fMRI-Based Diagnosis: Benefits for Psychiatric Conditions and CNVs Would Likely Require Thousands of Patients
There is a growing interest in using machine learning (ML) models to perform automatic
diagnosis of psychiatric conditions; however, generalising the prediction of ML models to …
diagnosis of psychiatric conditions; however, generalising the prediction of ML models to …