A framework for an evidence-based gene list relevant to autism spectrum disorder

CP Schaaf, C Betancur, RKC Yuen, JR Parr… - Nature Reviews …, 2020 - nature.com
Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a
broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers …

Mechanisms underlying circuit dysfunction in neurodevelopmental disorders

D Exposito-Alonso, B Rico - Annual Review of Genetics, 2022 - annualreviews.org
Recent advances in genomics have revealed a wide spectrum of genetic variants
associated with neurodevelopmental disorders at an unprecedented scale. An increasing …

RNA splicing regulators play critical roles in neurogenesis

E Fisher, J Feng - Wiley Interdisciplinary Reviews: RNA, 2022 - Wiley Online Library
Alternative RNA splicing increases transcript diversity in different cell types and under
varying conditions. It is executed with the help of RNA splicing regulators (RSRs), which are …

[HTML][HTML] Evaluating the potential use of serotonergic psychedelics in autism spectrum disorder

A Markopoulos, A Inserra, D De Gregorio… - Frontiers in …, 2022 - frontiersin.org
Recent clinical and preclinical evidence points towards empathogenic and prosocial effects
elicited by psychedelic compounds, notably the serotonin 5-HT 2A agonists lysergic acid …

[PDF][PDF] Shifts in ribosome engagement impact key gene sets in neurodevelopment and ubiquitination in Rett syndrome

DC Rodrigues, M Mufteev, RJ Weatheritt, U Djuric… - Cell reports, 2020 - cell.com
Regulation of translation during human development is poorly understood, and its
dysregulation is associated with Rett syndrome (RTT). To discover shifts in mRNA ribosomal …

[HTML][HTML] Targeting NMDA receptors in neuropsychiatric disorders by drug screening on human neurons derived from pluripotent stem cells

W Zhang, PJ Ross, J Ellis, MW Salter - Translational psychiatry, 2022 - nature.com
NMDA receptors (NMDARs), a prominent subtype of glutamatergic receptors, are implicated
in the pathogenesis and development of neuropsychiatric disorders such as epilepsy …

Invariant synapse density and neuronal connectivity scaling in primate neocortical evolution

CC Sherwood, SB Miller, M Karl, CD Stimpson… - Cerebral …, 2020 - academic.oup.com
Synapses are involved in the communication of information from one neuron to another.
However, a systematic analysis of synapse density in the neocortex from a diversity of …

[HTML][HTML] Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

E D'haene, S Vergult - Genetics in Medicine, 2021 - Elsevier
The emergence of novel sequencing technologies has greatly improved the identification of
structural variation, revealing that a human genome harbors tens of thousands of structural …

[HTML][HTML] Human pluripotent stem cell (hPSC) and organoid models of autism: opportunities and limitations

S Kilpatrick, C Irwin, KK Singh - Translational Psychiatry, 2023 - nature.com
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder caused by
genetic or environmental perturbations during early development. Diagnoses are dependent …

[HTML][HTML] Neurodevelopmental disorders in patients with complex phenotypes and potential complex genetic basis involving non-coding genes, and double CNVs

M Servetti, L Pisciotta, E Tassano, M Cerminara… - Frontiers in …, 2021 - frontiersin.org
Neurodevelopmental disorders (NDDs) are a heterogeneous class of brain diseases, with a
complex genetic basis estimated to account for up to 50% of cases. Nevertheless, genetic …