Neurodevelopmental disorders: from genetics to functional pathways

I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …

Neurexins: molecular codes for sha** neuronal synapses

AM Gomez, L Traunmüller, P Scheiffele - Nature Reviews …, 2021 - nature.com
The function of neuronal circuits relies on the properties of individual neuronal cells and
their synapses. We propose that a substantial degree of synapse formation and function is …

Multi-omic profiling of the develo** human cerebral cortex at the single-cell level

K Zhu, J Bendl, S Rahman, JM Vicari, C Coleman… - Science …, 2023 - science.org
The cellular complexity of the human brain is established via dynamic changes in gene
expression throughout development that is mediated, in part, by the spatiotemporal activity …

Modeling gene× environment interactions in PTSD using human neurons reveals diagnosis-specific glucocorticoid-induced gene expression

C Seah, MS Breen, T Rusielewicz, HN Bader… - Nature …, 2022 - nature.com
Post-traumatic stress disorder (PTSD) can develop following severe trauma, but the extent to
which genetic and environmental risk factors contribute to individual clinical outcomes is …

Schizophrenia genomics: genetic complexity and functional insights

PF Sullivan, S Yao, J Hjerling-Leffler - Nature Reviews Neuroscience, 2024 - nature.com
Determining the causes of schizophrenia has been a notoriously intractable problem,
resistant to a multitude of investigative approaches over centuries. In recent decades …

The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research

T Nakamura, A Takata - Molecular psychiatry, 2023 - nature.com
Despite enormous efforts employing various approaches, the molecular pathology in the
schizophrenia brain remains elusive. On the other hand, the knowledge of the association …

[HTML][HTML] Copy number variation and neuropsychiatric illness

E Rees, G Kirov - Current Opinion in Genetics & Development, 2021 - Elsevier
Copy number variants (CNVs) at specific loci have been identified as important risk factors
for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder …

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 …

Neurexins in autism and schizophrenia—a review of patient mutations, mouse models and potential future directions

A Tromp, B Mowry, J Giacomotto - Molecular psychiatry, 2021 - nature.com
Mutations in the family of neurexins (NRXN1, NRXN2 and NRXN3) have been repeatedly
identified in patients with autism spectrum disorder (ASD) and schizophrenia (SCZ) …

MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention

B Weigel, JF Tegethoff, SD Grieder, B Lim… - Molecular …, 2023 - nature.com
MYT1L is an autism spectrum disorder (ASD)-associated transcription factor that is
expressed in virtually all neurons throughout life. How MYT1L mutations cause neurological …