Dendritic structural plasticity and neuropsychiatric disease

MP Forrest, E Parnell, P Penzes - Nature Reviews Neuroscience, 2018 - nature.com
The structure of neuronal circuits that subserve cognitive functions in the brain is shaped
and refined throughout development and into adulthood. Evidence from human and animal …

[HTML][HTML] Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

AB Wilfert, A Sulovari, TN Turner, BP Coe, EE Eichler - Genome Medicine, 2017 - Springer
Next-generation sequencing (NGS) is now more accessible to clinicians and researchers.
As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has …

[HTML][HTML] Pharmacogenomics of GPCR drug targets

AS Hauser, S Chavali, I Masuho, LJ Jahn… - Cell, 2018 - cell.com
Natural genetic variation in the human genome is a cause of individual differences in
responses to medications and is an underappreciated burden on public health. Although …

[HTML][HTML] Comparative genetic architectures of schizophrenia in East Asian and European populations

M Lam, CY Chen, Z Li, AR Martin, J Bryois, X Ma… - Nature …, 2019 - nature.com
Schizophrenia is a debilitating psychiatric disorder with approximately 1% lifetime risk
globally. Large-scale schizophrenia genetic studies have reported primarily on European …

[HTML][HTML] Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

T Wang, K Hoekzema, D Vecchio, H Wu… - Nature …, 2020 - nature.com
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …

[HTML][HTML] Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

HAF Stessman, BO Xiong, BP Coe, T Wang… - Nature …, 2017 - nature.com
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …

RMVar: an updated database of functional variants involved in RNA modifications

X Luo, H Li, J Liang, Q Zhao, Y Xie, J Ren… - Nucleic acids …, 2021 - academic.oup.com
Distinguishing the few disease-related variants from a massive number of passenger
variants is a major challenge. Variants affecting RNA modifications that play critical roles in …

Transcriptome and epigenome landscape of human cortical development modeled in organoids

A Amiri, G Coppola, S Scuderi, F Wu, T Roychowdhury… - Science, 2018 - science.org
INTRODUCTION The human cerebral cortex has undergone an extraordinary increase in
size and complexity during mammalian evolution. Cortical cell lineages are specified in the …

POSTAR3: an updated platform for exploring post-transcriptional regulation coordinated by RNA-binding proteins

W Zhao, S Zhang, Y Zhu, X Xi, P Bao, Z Ma… - Nucleic Acids …, 2022 - academic.oup.com
RNA-binding proteins (RBPs) play key roles in post-transcriptional regulation. Accurate
identification of RBP binding sites in multiple cell lines and tissue types from diverse species …

[HTML][HTML] Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

BP Coe, HAF Stessman, A Sulovari, MR Geisheker… - Nature …, 2019 - nature.com
We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …