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Home › Research › Topics › genetics

genetics

346 studies tagged genetics, dated 1992-10-01 to 2026-10-26. Bibliography: BibTeX (.bib) · RIS (.ris)

Newest in this topic

  1. A family-aware All of Us benchmark for polygenic prediction and genomic machine learning 2026-10-26
  2. Genetic susceptibility to Lewy body disease and the distribution of Lewy pathology 2026-10-24
  3. Genetic Modifiers of Age at Onset for Parkinson’s Disease in European Populations 2026-10-22

Studies

346 studies carry this tag.

Date range

1992 to 2026

Top journals

  • Alzheimer's & dementia : the journal of the Alzheimer's Association 29
  • Neurobiology of aging 18
  • Journal of Alzheimer's disease : JAD 16
  • Molecular psychiatry 12
  • medRxiv 11

137 journals in all.

Newest first, then by address. Each study has a usefulness score out of 100 (rubric version 4.0); tap a score to see what makes it up. Tags were assigned automatically from each study's title and summary. The same studies as a filter in the library.

  1. [Genetic Background for Alzheimer's Disease: Knowledge Accumulated from AD GWAS]

    ✓ Peer-reviewed alzhub usefulness score 68 out of 100. Brain and nerve = Shinkei kenkyu no shinpo 2019-10 Genetics

    Dementia is a leading cause of death in many countries.

  2. APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease

    ✓ Peer-reviewed alzhub usefulness score 46 out of 100. International journal of molecular sciences 2019-09-25 Risk genes beyond APOE

    The number of patients with Alzheimer's disease (AD) is rapidly increasing in Asia.

  3. Atrial Fibrillation Genetics Update: Toward Clinical Implementation

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Frontiers in cardiovascular medicine 2019-09-06 Genetics

    Atrial fibrillation (AF) is the most common heart rhythm disorder worldwide and may have serious cardiovascular health consequences.

  4. Sex differences in the genetic predictors of Alzheimer's pathology

    ✓ Peer-reviewed alzhub usefulness score 82 out of 100. Brain : a journal of neurology 2019-09-01 Genetics

    Autopsy measures of Alzheimer's disease neuropathology have been leveraged as endophenotypes in previous genome-wide association studies (GWAS).

  5. A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 45 out of 100. BMC neurology 2019-08-07 Risk genes beyond APOE

    We report a case of EOAD having a pathogenic PSEN1 (Trp165Cys) confirmed with in silico and in vitro predictions.

  6. Handedness, language areas and neuropsychiatric diseases: insights from brain imaging and genetics

    ✓ Peer-reviewed alzhub usefulness score 45 out of 100. Brain 2019-08-07 Genetics

    Ninety per cent of the human population has been right-handed since the Paleolithic, yet the brain signature and genetic basis of handedness remain poorly characterized.

  7. Genetic analyses of early-onset Alzheimer's disease using next generation sequencing

    ✓ Peer-reviewed alzhub usefulness score 46 out of 100. Scientific reports 2019-06-10 Risk genes beyond APOE

    Alzheimer's disease (AD) is the most common type of neurodegenerative dementia, but the cause of AD remained poorly understood.

  8. Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. American journal of human genetics 2019-06-06 Genetics

    Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative disease characterized by eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs.

  9. Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment

    ✓ Peer-reviewed alzhub usefulness score 55 out of 100. Translational psychiatry 2019-05-24 Genetics

    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.

  10. Structured Genome-Wide Association Studies with Bayesian Hierarchical Variable Selection

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Genetics 2019-04-22 Genetics

    It becomes increasingly important in using genome-wide association studies (GWAS) to select important genetic information associated with qualitative or quantitative traits.

  11. The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics

    ✓ Peer-reviewed alzhub usefulness score 45 out of 100. Acta neuropathologica 2019-03-22 Genetics

    Genome-wide association studies (GWAS) originally identified ATP-binding cassette, sub-family A, member 7 (ABCA7), as a novel risk gene of Alzheimer's disease (AD).

  12. Polygenic risk and hazard scores for Alzheimer's disease prediction

    ✓ Peer-reviewed alzhub usefulness score 61 out of 100. Annals of clinical and translational neurology 2019-02-18 Genetics

    Polygenic Risk Score significantly predicted the risk associated with age at AD onset when SNPs were preselected for association to AD at P ≤ 0.001.

  13. GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Current genetic medicine reports 2019-02-14 Genetics

    Neurodegenerative diseases, neuropsychiatric disorders, and related traits have highly complex etiologies but are also highly heritable and identifying the causal genes and biological pathways underlying these traits may advance the development of treatments and preventive strategies.

  14. Benefits and Challenges of Rare Genetic Variation in Alzheimer's Disease

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Current genetic medicine reports 2019-02-01 Genetics

    It is well established that sporadic Alzheimer's disease (AD) is polygenic with common and rare genetic variation alongside environmental factors contributing to disease.

  15. Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Neurobiology of aging 2019-01-31 Risk genes beyond APOE

    Causative mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1), or presenilin 2 (PSEN2) account for a majority of cases of familial Alzheimer disease (FAD) inherited in an autosomal-dominant pattern.

  16. Genetic screening in early-onset Alzheimer's disease identified three novel presenilin mutations

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. Neurobiology of aging 2019-01-29 Risk genes beyond APOE

    Mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) are major genetic causes of early-onset Alzheimer's disease (EOAD).

  17. Identification of Alzheimer's Disease-Related Genes Based on Data Integration Method

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Frontiers in genetics 2019-01-25 Genetics

    Alzheimer disease (AD) is the fourth major cause of death in the elderly following cancer, heart disease and cerebrovascular disease.

  18. Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances

    ✓ Peer-reviewed alzhub usefulness score 45 out of 100. eLife 2019-01-15 Genetics

    We use a genome-wide association of 1 million parental lifespans of genotyped subjects and data on mortality risk factors to validate previously unreplicated findings near CDKN2B-AS1 , ATXN2/BRAP , FURIN/FES , ZW10 , PSORS1C3 , and 13q21.31, and identify and replicate novel findings near ABO , ZC3HC1 , and IGF2R .

  19. A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 57 out of 100. Alzheimer's & dementia : the journal of the Alzheimer's Association 2019-01-03 Genetics

    We identified associations in EAs with variants in 12 novel loci.

  20. Leukocyte Telomere Length Shortening and Alzheimer's Disease Etiology

    ✓ Peer-reviewed alzhub usefulness score 45 out of 100. Journal of Alzheimer's disease : JAD 2019 Genetics

    The genetic risk score for TL was associated with higher risk of AD [log-odds ratio (OR) = 0.003 for per TL-decreasing allele; 95% confidence interval (CI): 0.001, 0.005, p = 0.005].

  21. Polygenic Risk Score Analysis of Alzheimer's Disease in Cases without APOE4 or APOE2 Alleles

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. The journal of prevention of Alzheimer's disease 2019 Genetics

    The We and others have previously shown that polygenic risk score analysis (PRS) has considerable predictive utility for identifying those at high risk of developing Alzheimer's disease (AD) with an area under the curve (AUC) of >0.8.

  22. Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. Neurobiology of aging 2018-12-06 Risk genes beyond APOE

    Familial Alzheimer's disease (FAD) is characterized by a positive family history of dementia and typically occurs at an early age with an autosomal dominant pattern of inheritance.

  23. Genetic effects and gene-by-education interactions on episodic memory performance and decline in an aging population

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Social science & medicine (1982) 2018-11-10 Genetics

    Both social and genetic factors contribute to cognitive impairment and decline, yet genetic factors identified through genome-wide association studies (GWAS) explain only a small portion of trait variability.

  24. Neurogenetic contributions to amyloid beta and tau spreading in the human cortex

    ✓ Peer-reviewed alzhub usefulness score 59 out of 100. Nature medicine 2018-10-29 Brain scans and imaging

    Tau and amyloid beta (Aβ) proteins accumulate along neuronal circuits in Alzheimer's disease.

  25. DNA Hypomethylation in Blood Links B3GALT4 and ZADH2 to Alzheimer’s Disease

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Journal of Alzheimer s Disease 2018-10-22 Biomarkers

    Differentially methylated positions (DMPs) between persons with and without late-onset Alzheimer's disease (LOAD) were observed at 477 of 769,190 loci in a plurality of genes.

  26. Alzheimer's Disease and Rheumatoid Arthritis: A Mendelian Randomization Study

    ✓ Peer-reviewed alzhub usefulness score 80 out of 100. Frontiers in neuroscience 2018-09-12 Genetics

    Alzheimer's disease (AD) is the most common neurodegenerative disease.

  27. A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 45 out of 100. Clinical interventions in aging 2018-07-31 Risk genes beyond APOE

    A pathogenic mutation in the PSEN2 gene in a Korean patient associated with EOAD was identified.

  28. Discovery and validation of autosomal dominant Alzheimer's disease mutations

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Alzheimer's research & therapy 2018-07-18 Risk genes beyond APOE

    We propose that PSEN1 M84V, PSEN1 A396T, PSEN2 R284G, and APP T719N are likely pathogenic mutations, whereas PSEN1 c.379_382delXXXXinsG and PSEN2 L238F have uncertain pathogenicity.

  29. A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Molecular psychiatry 2018-07-09 Genetics

    Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS).

  30. A decade in psychiatric GWAS research

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Molecular psychiatry 2018-06-25 Genetics

    After more than 10 years of accumulated efforts, genome-wide association studies (GWAS) have led to many findings, most of which have been deposited into the GWAS Catalog.

  31. Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

    ✓ Peer-reviewed alzhub usefulness score 81 out of 100. Nature genetics 2018-06-25 Genetics

    Intelligence is highly heritable 1 and a major determinant of human health and well-being 2 .

  32. Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE

    ✓ Peer-reviewed alzhub usefulness score 79 out of 100. International journal of obesity (2005) 2018-06-13 Genetics

    These results provide new insight into the genetic basis of habitual PA, and the genetic links connecting PA with other traits and diseases.

  33. Pharmacogenetic studies in Alzheimer disease

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Neurologia 2018-06-10 Treatments

    Potential pharmacogenetic biomarkers for AD have been identified; however, it is still necessary to conduct further research into other populations and to identify new biomarkers.

  34. Using High-Throughput Animal or Cell-Based Models to Functionally Characterize GWAS Signals

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Current genetic medicine reports 2018-05-29 Genetics

    The advent of genome-wide association studies (GWASs) constituted a breakthrough in our understanding of the genetic architecture of multifactorial diseases.

  35. Human brain arousal in the resting state: a genome-wide association study

    ✓ Peer-reviewed alzhub usefulness score 57 out of 100. Molecular psychiatry 2018-04-27 Genetics

    Arousal affects cognition, emotion, and behavior and has been implicated in the etiology of psychiatric disorders.

  36. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

    ✓ Peer-reviewed alzhub usefulness score 45 out of 100. Nature Genetics 2018-04-01 Genetics

    Genetics can provide a systematic approach to discovering the tissues and cell types relevant for a complex disease or trait.

  37. Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 59 out of 100. Annals of clinical and translational neurology 2018-03-13 Genetics

    A variant in AKAP9, p.R434W, segregated significantly with LOAD in two large families (OR = 5.77, 95% CI: 1.07-30.9, P = 0.041).

  38. Lack of association between triggering receptor expressed on myeloid cells 2 polymorphism rs75932628 and late-onset Alzheimer's disease in a Chinese Han population

    ✓ Peer-reviewed alzhub usefulness score 52 out of 100. Psychiatric genetics 2018-02 TREM2 and immune genetics

    Recently, several studies have investigated the association between the rare mutation of triggering receptor expressed on myeloid cells 2 (TREM2) gene (rs75932628-T) and the risk of late-onset Alzheimer's disease (LOAD), but they did not draw the same conclusion.

  39. Causal associations between risk factors and common diseases inferred from GWAS summary data

    ✓ Peer-reviewed alzhub usefulness score 45 out of 100. Nature communications 2018-01-15 Genetics

    Health risk factors such as body mass index (BMI) and serum cholesterol are associated with many common diseases.

  40. Genotyping of the Alzheimer's Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort

    ✓ Peer-reviewed alzhub usefulness score 68 out of 100. Journal of Alzheimer's disease : JAD 2018 Genetics

    The Brains for Dementia Research project is a recently established longitudinal cohort which aims to provide brain tissue for research purposes from neuropathologically defined samples.

  41. Polygenic risk for Alzheimer's disease influences precuneal volume in two independent general populations

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Neurobiology of aging 2017-12-30 Genetics

    Alzheimer's disease (AD) is heritable with complex genetic underpinnings.

  42. Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

    ✓ Peer-reviewed alzhub usefulness score 79 out of 100. The Lancet. Neurology 2017-12-16 Genetics

    In the replication stage, we performed genotyping of significant and suggestive results from the discovery stage.

  43. Human longevity: 25 genetic loci associated in 389,166 UK biobank participants

    ✓ Peer-reviewed alzhub usefulness score 67 out of 100. Aging 2017-12-01 Genetics

    We undertook a genome-wide association study (GWAS) of parental longevity in European descent UK Biobank participants.

  44. Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Genome medicine 2017-11-29 Biomarkers

    Our results suggest that RAB10 could be a promising therapeutic target for AD prevention.

  45. Genetics of Alzheimer's Disease: the Importance of Polygenic and Epistatic Components

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Current neurology and neuroscience reports 2017-08-21 Genetics

    We aimed to summarize the recent advances in genetic findings of Alzheimer's disease (AD), focusing on traditional single-marker and gene approaches and non-traditional ones, i.e., polygenic and epistatic components.

  46. Alzheimer's disease genetic risk variants beyond APOE ε4 predict mortality

    ✓ Peer-reviewed alzhub usefulness score 57 out of 100. Alzheimer's & dementia (Amsterdam, Netherlands) 2017-08-14 Genetics

    Higher GRS predicted mortality (hazard ratio = 1.05; 95% confidence interval: 1.00-1.10, P = .04).

  47. FGWAS: Functional genome wide association analysis

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. NeuroImage 2017-07-20 Genetics

    Functional phenotypes (e.g., subcortical surface representation), which commonly arise in imaging genetic studies, have been used to detect putative genes for complexly inherited neuropsychiatric and neurodegenerative disorders.

  48. Genome-wide association study of language performance in Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. Brain and language 2017-05-31 Genetics

    Language impairment is common in prodromal stages of Alzheimer's disease (AD) and progresses over time.

  49. Untangling Genetic Risk for Alzheimer's Disease

    ✓ Peer-reviewed alzhub usefulness score 38 out of 100. Biological psychiatry 2017-05-22 Genetics

    Alzheimer's disease (AD) is a genetically heterogeneous neurodegenerative disorder caused by fully penetrant single gene mutations in a minority of cases, while the majority of cases are sporadic or show modest familial clustering.

  50. Genome-wide association and interaction studies of CSF T-tau/Aβ42 ratio in ADNI cohort

    ✓ Peer-reviewed alzhub usefulness score 52 out of 100. Neurobiology of aging 2017-05-15 Genetics

    The pathogenic relevance in Alzheimer's disease (AD) presents a decrease of cerebrospinal fluid amyloid-ß42 (Aß42) burden and an increase in cerebrospinal fluid total tau (T-tau) levels.

From across this tag

9 of the 346 studies in this tag, picked by a fixed rule (a hash of each study's address), not by score or date; each page of this list shows a different 9. The same 9 appear here every time.

All topic tags with their study counts