Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon… - Nature …, 2014 - nature.com
Copy number variants (CNVs) are associated with many neurocognitive disorders; however,
these events are typically large, and the underlying causative genes are unclear. We …
these events are typically large, and the underlying causative genes are unclear. We …
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
By analyzing the whole-exome sequences of 4,264 schizophrenia cases, 9,343 controls and
1,077 trios, we identified a genome-wide significant association between rare loss-of …
1,077 trios, we identified a genome-wide significant association between rare loss-of …
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
Genetic and genomic approaches have implicated hundreds of genetic loci in
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …
Synaptic dysregulation in a human iPS cell model of mental disorders
Dysregulated neurodevelopment with altered structural and functional connectivity is
believed to underlie many neuropsychiatric disorders, and 'a disease of synapses' is the …
believed to underlie many neuropsychiatric disorders, and 'a disease of synapses' is the …
[HTML][HTML] Genetic control of expression and splicing in developing human brain informs disease mechanisms
Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
We report germline missense mutations in ETV6 segregating with the dominant transmission
of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a …
of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a …
Neuron-specific signatures in the chromosomal connectome associated with schizophrenia risk
INTRODUCTION Chromosomal conformations, topologically associated chromatin domains
(TADs) assembling in nested fashion across hundreds of kilobases, and other “three …
(TADs) assembling in nested fashion across hundreds of kilobases, and other “three …
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …
Phenotypic differences in hiPSC NPCs derived from patients with schizophrenia
Consistent with recent reports indicating that neurons differentiated in vitro from human-
induced pluripotent stem cells (hiPSCs) are immature relative to those in the human brain …
induced pluripotent stem cells (hiPSCs) are immature relative to those in the human brain …
Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations
Protein-coding de novo mutations (DNMs) are significant risk factors in many
neurodevelopmental disorders, whereas schizophrenia (SCZ) risk associated with DNMs …
neurodevelopmental disorders, whereas schizophrenia (SCZ) risk associated with DNMs …