Neuroimaging genomic studies of autism spectrum disorder and schizophrenia have mainly
adopted a 'top-down'approach, beginning with the behavioural diagnosis, and moving down …

In the last decade there has been a revolution in terms of genetic findings in
neurodevelopmental disorders (NDDs), with many discoveries critical for understanding …

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 …

Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders
(NDDs) often carry disruptive mutations in genes that are depleted of functional variation in …

Pathogenic copy number variants (CNVs) and aneuploidies alter gene dosage and are
associated with neurodevelopmental psychiatric disorders such as autism spectrum disorder …

Background Recent large‐scale initiatives have led to systematically collected phenotypic
data for several rare genetic conditions implicated in autism spectrum disorder (ASD). The …

Alexandre Dumas' famous phrase All for One and One for All recapitulates our current
understanding of the genomic architecture of neurodevelopmental psychiatric disorders …

Among medical disciplines, diagnosis in psychiatry depends highly upon descriptive signs
and symptoms, rather than biomarkers. Clear descriptions of specific genetic etiologies have …

Rare genetic diseases preponderantly affect the nervous system causing
neurodegeneration to neurodevelopmental disorders. This is the case for both Menkes and …

Here, we describe a dataset with information about monogenic, rare diseases with a known
genetic background, supplemented with manually extracted provenance for the disease …