[HTML][HTML] Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
Treatment resistant depression: a multi-scale, systems biology approach
An estimated 50% of depressed patients are inadequately treated by available interventions.
Even with an eventual recovery, many patients require a trial and error approach, as there …
Even with an eventual recovery, many patients require a trial and error approach, as there …
Brain disorders? Not really: Why network structures block reductionism in psychopathology research
D Borsboom, AOJ Cramer, A Kalis - Behavioral and Brain Sciences, 2019 - cambridge.org
In the past decades, reductionism has dominated both research directions and funding
policies in clinical psychology and psychiatry. The intense search for the biological basis of …
policies in clinical psychology and psychiatry. The intense search for the biological basis of …
Psychiatric genetics and the structure of psychopathology
For over a century, psychiatric disorders have been defined by expert opinion and clinical
observation. The modern DSM has relied on a consensus of experts to define categorical …
observation. The modern DSM has relied on a consensus of experts to define categorical …
[HTML][HTML] State of the field: Differentiating intellectual disability from autism spectrum disorder
The topic of this special issue on secondary versus idiopathic autism allows for discussion of
how different groups may come to manifest autism spectrum disorder (ASD) or ASD-like …
how different groups may come to manifest autism spectrum disorder (ASD) or ASD-like …
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …
coding genetic variants. However, patients with the same genetic defect can have different …
[HTML][HTML] New insights into the generation and role of de novo mutations in health and disease
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
Genetic and genomic approaches have implicated hundreds of genetic loci in
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …
De novo variants in neurodevelopmental disorders with epilepsy
Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …
[HTML][HTML] Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …