Single-cell genomics meets human genetics
Single-cell genomic technologies are revealing the cellular composition, identities and
states in tissues at unprecedented resolution. They have now scaled to the point that it is …
states in tissues at unprecedented resolution. They have now scaled to the point that it is …
The microbiota–gut–brain axis and neurodevelopmental disorders
The gut microbiota has been found to interact with the brain through the microbiota–gut–
brain axis, regulating various physiological processes. In recent years, the impacts of the gut …
brain axis, regulating various physiological processes. In recent years, the impacts of the gut …
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 …
A full semantic toolbox is essential for autism research and practice to thrive
A Singer, A Lutz, J Escher, A Halladay - Autism Research, 2023 - Wiley Online Library
Individuals diagnosed with autism spectrum disorder (ASD) present with a highly diverse set
of challenges, disabilities, impairments and strengths. Recently, it has been suggested that …
of challenges, disabilities, impairments and strengths. Recently, it has been suggested that …
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
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 …
Longitudinal analysis of cancer risk in children and adults with germline PTEN variants
Importance Identifying hereditary cancer predisposition facilitates high-risk organ-specific
cancer surveillance and prevention. InPTENhamartoma tumor syndrome (PHTS) …
cancer surveillance and prevention. InPTENhamartoma tumor syndrome (PHTS) …
Gene copy number variation and pediatric mental health/neurodevelopment in a general population
We assessed the relationship of gene copy number variation (CNV) in mental health/
neurodevelopmental traits and diagnoses, physical health and cognition in a community …
neurodevelopmental traits and diagnoses, physical health and cognition in a community …
Mitochondrial DNA haplogroup K is protective against autism spectrum disorder risk in populations of European ancestry
Objective Accumulative evidence indicates a critical role of mitochondrial function in autism
spectrum disorders (ASD), implying that ASD risk may be linked to mitochondrial dysfunction …
spectrum disorders (ASD), implying that ASD risk may be linked to mitochondrial dysfunction …
[HTML][HTML] CTNNB1 in neurodevelopmental disorders
CTNNB1 is the gene that encodes β-catenin which acts as a key player in the Wnt signaling
pathway and regulates cellular homeostasis. Most CTNNB1-related studies have been …
pathway and regulates cellular homeostasis. Most CTNNB1-related studies have been …
[HTML][HTML] A systematic review of non-coding RNA genes with differential expression profiles associated with autism spectrum disorders
Aims To identify differential expression of shorter non-coding RNA (ncRNA) genes
associated with autism spectrum disorders (ASD). Background ncRNA are functional …
associated with autism spectrum disorders (ASD). Background ncRNA are functional …