Structure, function, and pharmacology of glutamate receptor ion channels

KB Hansen, LP Wollmuth, D Bowie, H Furukawa… - Pharmacological …, 2021‏ - Elsevier
Many physiologic effects of l-glutamate, the major excitatory neurotransmitter in the
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …

Annual Research Review: The transdiagnostic revolution in neurodevelopmental disorders

DE Astle, J Holmes, R Kievit… - Journal of Child …, 2022‏ - Wiley Online Library
Practitioners frequently use diagnostic criteria to identify children with neurodevelopmental
disorders and to guide intervention decisions. These criteria also provide the organising …

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins… - Nature …, 2022‏ - nature.com
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

[HTML][HTML] Single-cell brain organoid screening identifies developmental defects in autism

C Li, JS Fleck, C Martins-Costa, TR Burkard… - Nature, 2023‏ - nature.com
The development of the human brain involves unique processes (not observed in many
other species) that can contribute to neurodevelopmental disorders,,–. Cerebral organoids …

[HTML][HTML] 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 …

[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome

RL Collins, JT Glessner, E Porcu, M Lepamets… - Cell, 2022‏ - cell.com
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

[HTML][HTML] Clinical assessment, genetics, and treatment approaches in autism spectrum disorder (ASD)

A Genovese, MG Butler - International journal of molecular sciences, 2020‏ - mdpi.com
Autism spectrum disorder (ASD) consists of a genetically heterogenous group of
neurobehavioral disorders characterized by impairment in three behavioral domains …

Inherited and de novo genetic risk for autism impacts shared networks

EK Ruzzo, L Pérez-Cano, JY Jung, L Wang… - Cell, 2019‏ - cell.com
We performed a comprehensive assessment of rare inherited variation in autism spectrum
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

MJ Gandal, JR Haney, NN Parikshak, V Leppa… - Science, 2018‏ - science.org
The predisposition to neuropsychiatric disease involves a complex, polygenic, and
pleiotropic genetic architecture. However, little is known about how genetic variants impart …

Use of race, ethnicity, and ancestry data in health research

C Lu, R Ahmed, A Lamri, SS Anand - PLOS Global Public Health, 2022‏ - journals.plos.org
Race, ethnicity, and ancestry are common classification variables used in health research.
However, there has been no formal agreement on the definitions of these terms, resulting in …