Candidate biomarkers in psychiatric disorders: state of the field
The field of psychiatry is hampered by a lack of robust, reliable and valid biomarkers that can
aid in objectively diagnosing patients and providing individualized treatment …
aid in objectively diagnosing patients and providing individualized treatment …
Neurodevelopmental disorders: from genetics to functional pathways
I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …
and function and are characterized by wide genetic and clinical variability. In this review, we …
Autism genes converge on asynchronous development of shared neuron classes
B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
[HTML][HTML] Single-cell epigenomics reveals mechanisms of human cortical development
During mammalian development, differences in chromatin state coincide with cellular
differentiation and reflect changes in the gene regulatory landscape. In the developing brain …
differentiation and reflect changes in the gene regulatory landscape. In the developing brain …
The contributions of rare inherited and polygenic risk to ASD in multiplex families
M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - National Acad Sciences
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …
from both de novo and inherited variation. Few studies have been designed to address the …
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
AJM Dingemans, M Hinne, KMG Truijen, L Goltstein… - Nature Genetics, 2023 - nature.com
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …
correlations, including facial recognition tools. However, no unified framework that …
Genetic causes and modifiers of autism spectrum disorder
L Rylaarsdam, A Guemez-Gamboa - Frontiers in cellular …, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
Macroautophagy in CNS health and disease
CJ Griffey, A Yamamoto - Nature Reviews Neuroscience, 2022 - nature.com
Macroautophagy is an evolutionarily conserved process that delivers diverse cellular
contents to lysosomes for degradation. As our understanding of this pathway grows, so does …
contents to lysosomes for degradation. As our understanding of this pathway grows, so does …
Establishing cerebral organoids as models of human-specific brain evolution
Direct comparisons of human and non-human primate brains can reveal molecular
pathways underlying remarkable specializations of the human brain. However, chimpanzee …
pathways underlying remarkable specializations of the human brain. However, chimpanzee …
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
Humans vary substantially in their willingness to take risks. In a combined sample of over 1
million individuals, we conducted genome-wide association studies (GWAS) of general risk …
million individuals, we conducted genome-wide association studies (GWAS) of general risk …