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Article
Open AccessReply to: Genome-wide association studies of polygenic risk score-derived phenotypes may lead to inflated false positive rates
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Chapter and Conference Paper
Bat Algorithm for Discrete Optimization Problems: An Analysis
In this article the application of the discrete version of the bat algorithm to flowshop scheduling problems is presented and compared with Simulated Annealing, Local Search, as well as versions of each that s...
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Article
Open AccessExome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease
Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do n...
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Article
Open AccessCorrection: Challenge accepted: Uncovering the role of rare genetic variants in Alzheimer’s disease
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Article
Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation
Dementia with Lewy bodies is a neurodegenerative disease, sharing features with Parkinson’s and Alzheimer’s diseases. We report a case of a patient dementia with Lewy bodies carrying combined PSEN1 and ATP7B mut...
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Article
Open AccessIndependent phenotypic plasticity axes define distinct obesity sub-types
Studies in genetically ‘identical’ individuals indicate that as much as 50% of complex trait variation cannot be traced to genetics or to the environment. The mechanisms that generate this ‘unexplained’ phenot...
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Article
Open AccessGenome-wide association of polygenic risk extremes for Alzheimer's disease in the UK Biobank
In just over a decade, advances in genome-wide association studies (GWAS) have offered an approach to stratify individuals based on genetic risk for disease. Using recent Alzheimer's disease (AD) GWAS results ...
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Article
Open AccessChallenge accepted: uncovering the role of rare genetic variants in Alzheimer’s disease
The search for rare variants in Alzheimer’s disease (AD) is usually deemed a high-risk - high-reward situation. The challenges associated with this endeavor are real. Still, the application of genome-wide tech...
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Article
Open AccessA comprehensive analysis of copy number variation in a Turkish dementia cohort
Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases. As examples, duplications and tr...
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Article
Genetics of synucleins in neurodegenerative diseases
The SNCA locus currently has an indisputable role in Parkinson’s disease and other synucleinopathies. The role of genetic variability in the other members of the synuclein family (SNCB and SNCG) in disease is far...
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Article
Open AccessPHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice
Recently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hy...
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Article
Alzheimer’s Disease Genetics: Review of Novel Loci Associated with Disease
The amyloid cascade hypothesis has shaped the Alzheimer’s disease (AD) research field for the last 30 years. Originally hinged on mutations in the APP pathway, its linearity has become limited to explain all the ...
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Article
Open AccessA rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease
Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS). However, there is still a large proportion of heritability that might be ex...
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Article
Open AccessAnalysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other...
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Article
Open AccessAn AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids
Swedish type Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS-S) is a severe adult-onset leukoencephalopathy with the histopathological hallmark of neuraxonal degeneration with spheroids, described ...
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Article
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessCorrection: Alzheimer’s disease polygenic risk score as a predictor of conversion from mild-cognitive impairment
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessAlzheimer’s disease polygenic risk score as a predictor of conversion from mild-cognitive impairment
Mild-cognitive impairment (MCI) occurs in up to one-fifth of individuals over the age of 65, with approximately a third of MCI individuals converting to dementia in later life. There is a growing necessity for...
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Article
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Risk for late-onset Alzheimer’s disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinicall...
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Article
Open AccessThe Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions
Dementia with Lewy bodies (DLB) is a neurodegenerative disease that can be clinically and pathologically similar to Parkinson’s disease (PD) and Alzheimer’s disease (AD). Current understanding of DLB genetics ...
