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Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression

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Long-read sequencing in human genetics

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Emerging Role of ABC Transporters in Glia Cells in Health and Diseases of the Central Nervous System

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Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humansPreprint

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Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing

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Potential applications of nanopore sequencing for forensic analysis.

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Variable number tandem repeats – Their emerging role in sickness and health

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The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases

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Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain

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Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeatsPreprint

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A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits

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Rare missense mutations in ABCA7 might increase Alzheimer’s disease risk by plasma membrane exclusion

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ABCA7-Associated Clinical Features and Molecular Mechanisms in Alzheimer’s Disease

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Revisiting tandem repeats in psychiatric disorders from perspectives of genetics, physiology, and brain evolution

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A comprehensive tandem repeat catalog of the human genome

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Pharmacogenomics of Alzheimer’s Disease: Novel Strategies for Drug Utilization and Development

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Genome-Wide Meta-Analysis of Late-Onset Alzheimer’s Disease Using Rare Variant Imputation in 65,602 Subjects Identifies Novel Rare Variant Locus NCK2 : The International Genomics of Alzheimer’s Project (IGAP)Preprint

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ABCA7 genotype altered Aβ levels in cerebrospinal fluid in Alzheimer’s disease without dementia

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Searching the Dark Genome for Alzheimer’s Disease Risk Variants

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Premature termination codon mutations in ABCA7 contribute to Alzheimer's disease risk in Belgian patients

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Mutated Toll-like receptor 9 increases Alzheimer’s disease risk by compromising innate immunity protection

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Multi-omic quantitative trait loci link tandem repeat size variation to gene regulation in human brain

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A landscape of complex tandem repeats within individual human genomes

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Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus

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Decomposing mosaic tandem repeats accurately from long reads

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Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT and otterPreprint

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Unlocking Implantation: The Role of Nitric Oxide, NO2-NO3, and eNOS in Endometrial Receptivity and IVF Success—A Systematic Review

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Genetic architecture of neurodegenerative dementias

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ABCA7 Loss-of-Function Variants Impact Phosphatidylcholine Metabolism in the Human BrainPreprint

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Long‐read sequencing reveals genomic and epigenomic variation in the dark genome of human Alzheimer's disease

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Aberrant DNA Methylation, Expression, and Occurrence of Transcript Variants of the ABC Transporter ABCA7 in Breast Cancer

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CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response

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Analysis of targeted and whole genome sequencing of PacBio HiFi reads for a comprehensive genotyping of gene-proximal and phenotype-associated Variable Number Tandem Repeats

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Expression of ABCA7 in Alzheimer’s disease

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Intronic VNTRs downregulate expression of HSF1 and confer genetic risk of essential tremor

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SNP-by-CpG Site Interactions in ABCA7 Are Associated with Cognition in Older African Americans

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Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG

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Association between ABCA7 gene polymorphisms and Parkinson’s disease susceptibility in a northern Chinese Han population

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Multisample motif discovery and visualization for tandem repeatsPreprint

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Exploring potential mechanisms of an African protective locus for Alzheimer's disease in APOEε4 carriers

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Structure of a polymorphic repeat at the CACNA1C schizophrenia locus

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Tandem repeats in human brain evolution and disease susceptibility

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A novel hypervariable variable number tandem repeat in the dopamine transporter gene ( SLC6A3 )

Apsley, A. T., Domico, E. R., Verbiest, M. A., Brogan, C. A., Buck, E. R., Burich, A. J., Cardone, K. M., Stone, W. J., Anisimova, M. O., & Vandenbergh, D. J. (2023) · Life Science Alliance · doi:10.26508/lsa.202201677 · Cited by 4 · see citing works

vamos: VNTR annotation using efficient motif setsPreprint

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African origin haplotype protective for Alzheimer’s disease in APOE ε4 carriers: exploring potential mechanismsPreprint

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Understanding Neurodegenerative Diseases From the −Omics Perspective: Lessons Learnt

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Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease

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Evaluating the Contribution of Cell Type–Specific Alternative Splicing to Variation in Lipid Levels

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Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otterPreprint

Tesi, N., Salazar, A., Zhang, Y., van der Lee, S. J., Hulsman, M., Knoop, L., Wijesekera, S., Křížová, J., Schneider, A.-F. E., Pennings, M., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.03.15.585288 · Cited by 3 · see citing works

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions

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Toward understanding the role of genomic repeat elements in neurodegenerative diseases

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Very low levels of ABCA7 in the cerebrum and Alzheimer’s disease onset between the ages of 60 and 80 independently of APOE

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Faculty Opinions recommendation of Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

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Accurate detection of tandem repeats from error-prone sequences with EquiRepPreprint

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Long-Read Sequencing and Analysis of Variable Number Tandem Repeats

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A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression

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Exploring the Relationship between CLPTM1L-MS2 Variants and Susceptibility to Bladder Cancer

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trfermikit: a tool to discover VNTR-associated deletions

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A cystic fibrosis lung disease modifier locus harbors tandem repeats associated with gene expressionPreprint

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Structural characterization of a polymorphic repeat at the CACNA1C schizophrenia locusPreprint

Moya, R., Wang, X., Tsien, R. W., & Maurano, M. T. (2024) · medRxiv · doi:10.1101/2024.03.05.24303780

Additional file 1 of CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response

Duchateau, L., Küҫükali, F., Roeck, A. D., Wittens, M. M. J., Temmerman, J., Weets, I., Timmers, M., Engelborghs, S., Bjerke, M., & Sleegers, K. (2023) · Figshare · doi:10.6084/m9.figshare.24540665

Accurate Detection of Tandem Repeats from Error-Prone Sequences with EquiRepPreprint

Song, Z., Zahin, T., Li, X., & Shao, M. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.11.05.621953

Variations and Polymorphisms: The Human Pangenome Project

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Approximating edit distances between complex tandem repeats efficiently

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Novel insight into genetic impacts on neurodegenerative dementia

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Additional file 2 of CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response

Duchateau, L., Küҫükali, F., Roeck, A. D., Wittens, M. M. J., Temmerman, J., Weets, I., Timmers, M., Engelborghs, S., Bjerke, M., & Sleegers, K. (2024) · Figshare · doi:10.6084/m9.figshare.24540868

Additional file 4 of Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences

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Additional file 1 of Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences

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The Alzheimer’s disease risk gene ABCA7 regulates microglial lysosomal and lipid homeostasis and promotes phagocytosis to maintain neuronal healthPreprint

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O4‐01‐01: IN‐DEPTH ANALYSIS OF AN ABCA7 VNTR IN ALZHEIMER'S DISEASE

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Biomarker‐informed characterization of an ABCA7 tandem repeat expansion in a family with early‐onset Alzheimer’s Disease

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Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease

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Alzheimer’s Disease Genetics and ABCA7 Splicing

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Transcript analysis using long‐read sequencing reveals the complex splicing profile of AD‐associated gene ABCA7

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