[HTML][HTML] Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in Pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Treatment resistant depression: a multi-scale, systems biology approach

H Akil, J Gordon, R Hen, J Javitch, H Mayberg… - Neuroscience & …, 2018 - Elsevier
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 …

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 …

Psychiatric genetics and the structure of psychopathology

JW Smoller, OA Andreassen, HJ Edenberg… - Molecular …, 2019 - nature.com
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 …

[HTML][HTML] State of the field: Differentiating intellectual disability from autism spectrum disorder

A Thurm, C Farmer, E Salzman, C Lord… - Frontiers in …, 2019 - frontiersin.org
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 …

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon… - Nature, 2018 - nature.com
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 …

[HTML][HTML] New insights into the generation and role of de novo mutations in health and disease

R Acuna-Hidalgo, JA Veltman, A Hoischen - Genome biology, 2016 - Springer
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 …

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

NN Parikshak, MJ Gandal, DH Geschwind - Nature Reviews Genetics, 2015 - nature.com
Genetic and genomic approaches have implicated hundreds of genetic loci in
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …

De novo variants in neurodevelopmental disorders with epilepsy

HO Heyne, T Singh, H Stamberger, R Abou Jamra… - Nature …, 2018 - nature.com
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 …

[HTML][HTML] Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

X Zhu, S Petrovski, P Xie, EK Ruzzo, YF Lu… - Genetics in …, 2015 - nature.com
Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …