Scholarly Works - Preprints
Preprint
·
June 10, 2026
INTRODUCTION: Genetic variants within the APOE-TOMM40 locus are associated with Alzheimer's disease (AD). A specific role for TOMM40 is indicated by the finding that '523' poly-T variants are associated with AD risk, but the mechanism for this effect has n ...
Full text
Link to item
Cite
Preprint
·
May 5, 2026
BACKGROUND: The current biomarker framework for the diagnosis and staging of Alzheimer's disease (AD) relies mainly on neuropathological features; thus, its performance for diagnosis is limited prior to the initiation of neurodegeneration. Here, we leverag ...
Full text
Link to item
Cite
Preprint
·
2023
ABSTRACTBackground The genetic underpinnings of late-onset Alzheimer’s disease (LOAD) are yet to be fully elucidated. Although numerous LOAD-associated loci have been discovered, the causal variants and their target genes remain largel ...
Full text
Cite
Preprint
·
2021
In the post-GWAS era, there is an unmet need to decode the underpinning genetic etiologies of late-onset Alzheimer’s disease (LOAD) and translate the associations to causation. Toward that goal, we conducted ATAC-seq profiling using neuronal nuclear protei ...
Full text
Cite
Preprint
·
2020
Background Cognitive traits demonstrate significant genetic correlations with many psychiatric disorders and other health-related traits. Many neuropsychiatric and neurodegenerative disorders are marked by cognitive deficits. Therefore, genome-wi ...
Full text
Cite
Preprint
·
2019
Liability to schizophrenia is inversely correlated with general cognitive ability at both the phenotypic and genetic level. Paradoxically, a modest but consistent positive genetic correlation has been reported between schizophrenia and educational attainme ...
Full text
Cite
Preprint
·
2019
Dysregulation of alpha-synuclein expression has been implicated in the pathogenesis of synucleinopathies, in particular Parkinson’s Disease (PD) and Dementia with Lewy bodies (DLB). Previous studies have shown that the alternatively spliced isoforms of the ...
Full text
Cite
Preprint
·
2017
Neurocognitive ability is a fundamental readout of brain function, and cognitive deficits are a critical component of neuropsychiatric disorders, yet neurocognition is poorly understood at the molecular level. In the present report, we present the largest ...
Full text
Cite
Preprint
·
2017
General cognitive function is a prominent human trait associated with many important life outcomes 1,2 , including longevity 3 . The substantial heritability of general cognitive function is known to be polygenic, but it has had little explication in ter ...
Full text
Cite
Preprint
·
2017
Intelligence is highly heritable 1 and a major determinant of human health and well-being 2 . Recent genome-wide meta-analyses have identified 24 genomic loci linked to intelligence 3–7 , but much about its genetic underpinnings remains to be discovered ...
Full text
Cite