MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling

N Mellios, DA Feldman, SD Sheridan, JPK Ip… - Molecular …, 2018 - nature.com
Rett syndrome (RTT) is an X-linked, neurodevelopmental disorder caused primarily by
mutations in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a …

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

SE McCarthy, J Gillis, M Kramer, J Lihm, S Yoon… - Molecular …, 2014 - nature.com
Schizophrenia is a serious psychiatric disorder with a broadly undiscovered genetic
etiology. Recent studies of de novo mutations (DNMs) in schizophrenia and autism have …

Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations

DP Howrigan, SA Rose, KE Samocha, M Fromer… - Nature …, 2020 - nature.com
Protein-coding de novo mutations (DNMs) are significant risk factors in many
neurodevelopmental disorders, whereas schizophrenia (SCZ) risk associated with DNMs …

Hominini-specific regulation of CBLN2 increases prefrontal spinogenesis

M Shibata, K Pattabiraman, SK Muchnik, N Kaur… - Nature, 2021 - nature.com
The similarities and differences between nervous systems of various species result from
developmental constraints and specific adaptations,,–. Comparative analyses of the …

The road to precision psychiatry: translating genetics into disease mechanisms

MJ Gandal, V Leppa, H Won, NN Parikshak… - Nature …, 2016 - nature.com
Hundreds of genetic loci increasing risk for neuropsychiatric disorders have recently been
identified. This success, perhaps paradoxically, has posed challenges for therapeutic …

[PDF][PDF] De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

S Appenzeller, R Balling, N Barisic, S Baulac… - The American Journal of …, 2014 - cell.com
Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …

[HTML][HTML] Cortical organoids model early brain development disrupted by 16p11. 2 copy number variants in autism

J Urresti, P Zhang, P Moran-Losada, NK Yu… - Molecular …, 2021 - nature.com
Reciprocal deletion and duplication of the 16p11. 2 region is the most common copy number
variation (CNV) associated with autism spectrum disorders. We generated cortical organoids …

De novo mutations in synaptic transmission genes including DNM1 cause epileptic

EuroEPINOMICS-RES Consortium - American journal of human …, 2014 - escholarship.org
Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …

Genetic relationships between schizophrenia, bipolar disorder, and schizoaffective disorder

AG Cardno, MJ Owen - Schizophrenia bulletin, 2014 - academic.oup.com
There is substantial evidence for partial overlap of genetic influences on schizophrenia and
bipolar disorder, with family, twin, and adoption studies showing a genetic correlation …

A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data

Q Wang, R Chen, F Cheng, Q Wei, Y Ji, H Yang… - Nature …, 2019 - nature.com
Genome-wide association studies (GWAS) have identified more than 100 schizophrenia
(SCZ)-associated loci, but using these findings to illuminate disease biology remains a …