Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
Genomic findings in schizophrenia and their implications
There has been substantial progress in understanding the genetics of schizophrenia over
the past 15 years. This has revealed a highly polygenic condition with the majority of the …
the past 15 years. This has revealed a highly polygenic condition with the majority of the …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
A concerted neuron–astrocyte program declines in ageing and schizophrenia
E Ling, J Nemesh, M Goldman, N Kamitaki, N Reed… - Nature, 2024 - nature.com
Human brains vary across people and over time; such variation is not yet understood in
cellular terms. Here we describe a relationship between people's cortical neurons and …
cellular terms. Here we describe a relationship between people's cortical neurons and …
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 …
A structural variation reference for medical and population genetics
Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …
consequences in evolution and human disease,. As national biobanks, disease-association …
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
DL Fehlings, M Zarrei, W Engchuan, N Sondheimer… - Nature …, 2024 - nature.com
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having …
and their biological parents. We classified 37 of 327 (11.3%) children as having …
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 …
Glutamatergic dysfunction in Schizophrenia
AO Kruse, JR Bustillo - Translational Psychiatry, 2022 - nature.com
The NMDA-R hypofunction model of schizophrenia started with the clinical observation of
the precipitation of psychotic symptoms in patients with schizophrenia exposed to PCP or …
the precipitation of psychotic symptoms in patients with schizophrenia exposed to PCP or …
The schizophrenia syndrome, circa 2024: What we know and how that informs its nature
R Tandon, H Nasrallah, S Akbarian… - Schizophrenia …, 2024 - Elsevier
With new data about different aspects of schizophrenia being continually generated, it
becomes necessary to periodically revisit exactly what we know. Along with a need to review …
becomes necessary to periodically revisit exactly what we know. Along with a need to review …