From basic science to clinical application of polygenic risk scores: a primer
Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibilities of
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …
[PDF][PDF] Human brain organogenesis: Toward a cellular understanding of development and disease
The construction of the human nervous system is a distinctly complex although highly
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …
[HTML][HTML] Multi-level analysis of the gut–brain axis shows autism spectrum disorder-associated molecular and microbial profiles
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut …
heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut …
Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …
historically difficult due to limitations inherent to available genome technologies. Detection …
Could polygenic risk scores be useful in psychiatry?: a review
Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibility to
diseases, calculated for individuals as weighted counts of thousands of risk variants in which …
diseases, calculated for individuals as weighted counts of thousands of risk variants in which …
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
New insights into the development of the human cerebral cortex
The cerebral cortex constitutes more than half the volume of the human brain and is
presumed to be responsible for the neuronal computations underlying complex phenomena …
presumed to be responsible for the neuronal computations underlying complex phenomena …
[HTML][HTML] ESCAP practice guidance for autism: a summary of evidence-based recommendations for diagnosis and treatment
J Fuentes, A Hervás, P Howlin… - European child & …, 2021 - Springer
Across Europe, there is increased awareness of the frequency and importance of autism
spectrum disorder (ASD), which is now recognised not only as a childhood disorder but as a …
spectrum disorder (ASD), which is now recognised not only as a childhood disorder but as a …
The polygenic architecture of schizophrenia—rethinking pathogenesis and nosology
Schizophrenia is a severe psychiatric disorder with considerable morbidity and mortality.
Although the past two decades have seen limited improvement in the treatment of …
Although the past two decades have seen limited improvement in the treatment of …
New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …