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 …

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 …

Psychometric perspectives on developmental outcome and endpoint selection in treatment trials for genetic conditions associated with neurodevelopmental disorder

C Farmer, AJ Kaat, E Berry-Kravis, A Thurm - International review of …, 2022 - Elsevier
Abstract Development in domains like motor ability, thinking and learning, social abilities,
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

C Fraza, IE Sønderby, R Boen, Y Shi, CF Beckmann… - medRxiv, 2023 - medrxiv.org
Copy number variations (CNVs) are genetic variants that can have a substantial influence
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 …

Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions

QQ Huang, EM Wigdor, P Campbell, DS Malawsky… - medRxiv, 2024 - medrxiv.org
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 …

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 …

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 …

[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 …

Challenges in Multi-Task Learning for fMRI-Based Diagnosis: Benefits for Psychiatric Conditions and CNVs Would Likely Require Thousands of Patients

A Harvey, CA Moreau, K Kumar, G Huguet… - Imaging …, 2024 - direct.mit.edu
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 …