The links below are to publications on PubMed referring to NIAGADS - NIA Genetics of Alzheimer's Disease Data Storage Site. This list is gathered weekly from PubMed automatically.

Publication/References
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
Description: Zou, Fanggeng, et al. Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. ''PLoS Genet''. 2012; '''8''' (6):e1002707
Genomics in neurological disorders.
Description: Han, Guangchun, et al. Genomics in neurological disorders. ''Genomics Proteomics Bioinformatics''. 2014 Aug; '''12''' (4):156-63
Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases.
Description: Allen, Mariet, et al. Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases. ''Sci Data''. 2016 Oct 11; '''3''': 160089
ANK1 is up-regulated in laser captured microglia in Alzheimer's brain; the importance of addressing cellular heterogeneity.
Description: Mastroeni, Diego, et al. ANK1 is up-regulated in laser captured microglia in Alzheimer's brain; the importance of addressing cellular heterogeneity. ''PLoS One''. 2017; '''12''' (7):e0177814
Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score.
Description: Desikan, Rahul S, et al. Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score. ''PLoS Med''. 2017 Mar; '''14''' (3):e1002258
Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.
Description: Broce, Iris, et al. Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. ''PLoS Med''. 2018 Jan; '''15''' (1):e1002487
Targeted Sequencing of Alzheimer Disease Genes in African Americans Implicates Novel Risk Variants.
Description: Logue, Mark W, et al. Targeted Sequencing of Alzheimer Disease Genes in African Americans Implicates Novel Risk Variants. ''Front Neurosci''. 2018; '''12''': 592
Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease.
Description: Chung, Jaeyoon, et al. Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease. ''Alzheimers Res Ther''. 2018 Feb 20; '''10''' (1):22
Brain APOE expression quantitative trait loci-based association study identified one susceptibility locus for Alzheimer's disease by interacting with APOE epsilon4.
Description: Zhang, Aiqian, et al. Brain APOE expression quantitative trait loci-based association study identified one susceptibility locus for Alzheimer's disease by interacting with APOE epsilon4. ''Sci Rep''. 2018 May 23; '''8''' (1):8068
Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci.
Description: Sanchez-Contreras, Monica Y, et al. Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci. ''Mol Neurodegener''. 2018 Jul 9; '''13''' (1):37
Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.
Description: Chen, Jason A, et al. Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases. ''Mol Neurodegener''. 2018 Aug 8; '''13''' (1):41
Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels.
Description: Maxwell, Taylor J, et al. Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels. ''Alzheimers Res Ther''. 2018 Aug 28; '''10''' (1):86
Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease.
Description: Beecham, Gary W, et al. Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease. ''Neurol Genet''. 2018 Dec; '''4''' (6):e286
Comparison of methods for multivariate gene-based association tests for complex diseases using common variants.
Description: Chung, Jaeyoon, et al. Comparison of methods for multivariate gene-based association tests for complex diseases using common variants. ''Eur J Hum Genet''. 2019 May; '''27''' (5):811-823
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Description: Cochran, J Nicholas, et al. Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles. ''Cold Spring Harb Mol Case Stud''. 2019 Dec; '''5''' (6):
A Coordinated Approach by Public Domain Bioinformatics Resources to Aid the Fight Against Alzheimer's Disease Through Expert Curation of Key Protein Targets.
Description: Breuza, Lionel, et al. A Coordinated Approach by Public Domain Bioinformatics Resources to Aid the Fight Against Alzheimer's Disease Through Expert Curation of Key Protein Targets. ''J Alzheimers Dis''. 2020; '''77''' (1):257-273
Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study.
Description: Reiman, Eric M, et al. Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study. ''Nat Commun''. 2020 Feb 3; '''11''' (1):667
Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Description: Bai, Bing, et al. Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression. ''Neuron''. 2020 Mar 18; '''105''' (6):975-991.e7
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.
Description: Cochran, J Nicholas, et al. Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases. ''Am J Hum Genet''. 2020 May 7; '''106''' (5):632-645
Synonymous variants associated with Alzheimer disease in multiplex families.
Description: Tang, Min, et al. Synonymous variants associated with Alzheimer disease in multiplex families. ''Neurol Genet''. 2020 Aug; '''6''' (4):e450
PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection.
Description: Tang, Zheng-Zheng, et al. PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection. ''Genome Biol''. 2020 Aug 26; '''21''' (1):217
Analysis of brain region-specific co-expression networks reveals clustering of established and novel genes associated with Alzheimer disease.
Description: Lancour, Daniel, et al. Analysis of brain region-specific co-expression networks reveals clustering of established and novel genes associated with Alzheimer disease. ''Alzheimers Res Ther''. 2020 Sep 2; '''12''' (1):103
Evolution of a Human-Specific Tandem Repeat Associated with ALS.
Description: Course, Meredith M, et al. Evolution of a Human-Specific Tandem Repeat Associated with ALS. ''Am J Hum Genet''. 2020 Sep 3; '''107''' (3):445-460
Tau Pathology Drives Dementia Risk-Associated Gene Networks toward Chronic Inflammatory States and Immunosuppression.
Description: Rexach, Jessica E, et al. Tau Pathology Drives Dementia Risk-Associated Gene Networks toward Chronic Inflammatory States and Immunosuppression. ''Cell Rep''. 2020 Nov 17; '''33''' (7):108398
The Application of Artificial Intelligence in the Genetic Study of Alzheimer's Disease.
Description: Mishra, Rohan, et al. The Application of Artificial Intelligence in the Genetic Study of Alzheimer's Disease. ''Aging Dis''. 2020 Dec; '''11''' (6):1567-1584
A Machine Learning Method to Identify Genetic Variants Potentially Associated With Alzheimer's Disease.
Description: Monk, Bradley, et al. A Machine Learning Method to Identify Genetic Variants Potentially Associated With Alzheimer's Disease. ''Front Genet''. 2021; '''12''': 647436
Apolipoprotein E epsilon4 Allele-Based Differences in Brain Volumes Are Largely Uniform Across Late Middle Aged and Older Hispanic/Latino- and Non-Hispanic/Latino Whites Without Dementia.
Description: Stickel, Ariana M, et al. Apolipoprotein E epsilon4 Allele-Based Differences in Brain Volumes Are Largely Uniform Across Late Middle Aged and Older Hispanic/Latino- and Non-Hispanic/Latino Whites Without Dementia. ''Front Aging Neurosci''. 2021; '''13''': 627322
Cryo-EM structures of tau filaments from Alzheimer's disease with PET ligand APN-1607.
Description: Shi, Yang, et al. Cryo-EM structures of tau filaments from Alzheimer's disease with PET ligand APN-1607. ''Acta Neuropathol''. 2021 May; '''141''' (5):697-708
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
Description: de Rojas, Itziar, et al. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. ''Nat Commun''. 2021 Jun 7; '''12''' (1):3417
Structure of Tau filaments in Prion protein amyloidoses.
Description: Hallinan, Grace I, et al. Structure of Tau filaments in Prion protein amyloidoses. ''Acta Neuropathol''. 2021 Aug; '''142''' (2):227-241
Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.
Description: Schmidt, Amand F, et al. Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease. ''Nat Commun''. 2021 Sep 24; '''12''' (1):5640
Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping.
Description: Belloy, Michael E, et al. Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping. ''Alzheimers Res Ther''. 2022 Feb 4; '''14''' (1):22
Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.
Description: Prokopenko, Dmitry, et al. Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2. ''Mol Psychiatry''. 2022 Apr; '''27''' (4):1963-1969
FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer's disease.
Description: Lee, Annie J, et al. FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer's disease. ''Acta Neuropathol''. 2022 Jul; '''144''' (1):59-79
Working status and risk of Alzheimer's disease: A Mendelian randomization study.
Description: Zhao, Jiaxi, et al. Working status and risk of Alzheimer's disease: A Mendelian randomization study. ''Brain Behav''. 2023 Jan; '''13''' (1):e2834
Cross-beta helical filaments of Tau and TMEM106B in gray and white matter of multiple system tauopathy with presenile dementia.
Description: Hoq, Md Rejaul, et al. Cross-beta helical filaments of Tau and TMEM106B in gray and white matter of multiple system tauopathy with presenile dementia. ''Acta Neuropathol''. 2023 May; '''145''' (5):707-710
A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores.
Description: Kang, Moonil, et al. A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores. ''Mol Neurodegener''. 2023 Jun 22; '''18''' (1):40
Clonal hematopoiesis is associated with protection from Alzheimer's disease.
Description: Bouzid, Hind, et al. Clonal hematopoiesis is associated with protection from Alzheimer's disease. ''Nat Med''. 2023 Jul; '''29''' (7):1662-1670
Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease.
Description: Lake, Julie, et al. Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease. ''Mol Psychiatry''. 2023 Jul; '''28''' (7):3121-3132
Founder population-specific weights yield improvements in performance of polygenic risk scores for Alzheimer's disease in the Midwestern Amish.
Description: Osterman, Michael D, et al. Founder population-specific weights yield improvements in performance of polygenic risk scores for Alzheimer's disease in the Midwestern Amish. ''HGG Adv''. 2023 Sep 22; '''4''' (4):100241
New directions for Alzheimer's disease research from the Jackson Laboratory Center for Alzheimer's and Dementia Research 2022 workshop.
Description: Telpoukhovskaia, Maria A, et al. New directions for Alzheimer's disease research from the Jackson Laboratory Center for Alzheimer's and Dementia Research 2022 workshop. ''Alzheimers Dement (N Y)''. 2024 Jan-Mar; '''10''' (1):e12458
The power of representation: Statistical analysis of diversity in US Alzheimer's disease genetics data.
Description: Xue, Diane, et al. The power of representation: Statistical analysis of diversity in US Alzheimer's disease genetics data. ''Alzheimers Dement (N Y)''. 2024 Jan-Mar; '''10''' (1):e12462
The ROSMAP project: aging and neurodegenerative diseases through omic sciences.
Description: Perez-Gonzalez, Alejandra P, et al. The ROSMAP project: aging and neurodegenerative diseases through omic sciences. ''Front Neuroinform''. 2024; '''18''': 1443865
Artificial intelligence and open science in discovery of disease-modifying medicines for Alzheimer's disease.
Description: Cheng, Feixiong, et al. Artificial intelligence and open science in discovery of disease-modifying medicines for Alzheimer's disease. ''Cell Rep Med''. 2024 Feb 20; '''5''' (2):101379
Genome-wide association studies identify novel loci in rapidly progressive Alzheimer's disease.
Description: Wang, Ping, et al. Genome-wide association studies identify novel loci in rapidly progressive Alzheimer's disease. ''Alzheimers Dement''. 2024 Mar; '''20''' (3):2034-2046
The Role of X Chromosome in Alzheimer's Disease Genetics.
Description: Belloy, Michael E, et al. The Role of X Chromosome in Alzheimer's Disease Genetics. ''medRxiv''. 2024 Apr 23;
Genetic evidence for serum amyloid P component as a drug target in neurodegenerative disorders.
Description: Schmidt, A Floriaan, et al. Genetic evidence for serum amyloid P component as a drug target in neurodegenerative disorders. ''Open Biol''. 2024 Jul; '''14''' (7):230419
Integrative Network Analysis Reveals Novel Moderators of Abeta-Tau Interaction in Alzheimer's Disease.
Description: Kitani, Akihiro, et al. Integrative Network Analysis Reveals Novel Moderators of Abeta-Tau Interaction in Alzheimer's Disease. ''bioRxiv''. 2024 Oct 28;
Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer's disease.
Description: Kang, Moonil, et al. Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer's disease. ''Alzheimers Dement''. 2024 Dec; '''20''' (12):8246-8262
Drug repurposing for Alzheimer's disease and other neurodegenerative disorders.
Description: Cummings, Jeffrey L, et al. Drug repurposing for Alzheimer's disease and other neurodegenerative disorders. ''Nat Commun''. 2025 Feb 19; '''16''' (1):1755
Design and methodology of the harmonized diagnostic assessment of dementia for the longitudinal aging study in India: Wave 2.
Description: Khobragade, Pranali Y, et al. Design and methodology of the harmonized diagnostic assessment of dementia for the longitudinal aging study in India: Wave 2. ''J Am Geriatr Soc''. 2025 Mar; '''73''' (3):685-696
APOE and Alzheimer's disease and related dementias risk among 12,221 Hispanics/Latinos.
Description: Barral, Sandra, et al. APOE and Alzheimer's disease and related dementias risk among 12,221 Hispanics/Latinos. ''Alzheimers Dement''. 2025 Apr; '''21''' (4):e70138
Utilization of precision medicine digital twins for drug discovery in Alzheimer's disease.
Description: Ren, Yunxiao, et al. Utilization of precision medicine digital twins for drug discovery in Alzheimer's disease. ''Neurotherapeutics''. 2025 Apr; '''22''' (3):e00553
Integrative network analysis reveals novel moderators of Abeta-Tau interaction in Alzheimer's disease.
Description: Kitani, Akihiro, et al. Integrative network analysis reveals novel moderators of Abeta-Tau interaction in Alzheimer's disease. ''Alzheimers Res Ther''. 2025 Apr 2; '''17''' (1):70
Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.
Description: Wang, Hui, et al. Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells. ''Mov Disord''. 2025 May; '''40''' (5):950-961