منابع

GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21
PMID: 29348612

Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes
PMID: 36273105

A genome-wide association study of susceptibility to acute lymphoblastic leukemia in adolescents and young adults
PMID: 25468567

Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks
PMID: 32991828

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma
PMID: 24403052

Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits
PMID: 18849993

Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort
PMID: 34995502

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
PMID: 39024449

A generalized linear mixed model association tool for biobank-scale data
PMID: 34737426

A cross-population atlas of genetic associations for 220 human phenotypes
PMID: 34594039

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers
PMID: 32273609

Supervariants identification for breast cancer
PMID: 32808324

GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer
PMID: 36929174 

Considering hormone-sensitive cancers as a single disease in the UK biobank reveals shared aetiology
PMID: 35729236

Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts
PMID: 32887889

Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia
PMID: 26956414

Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia
PMID: 22700719

Genetic architectures of proximal and distal colorectal cancer are partly distinct
PMID: 33632709

Meta-analysis of new genome-wide association studies of colorectal cancer risk
PMID: 21761138

Using clinical and genetic risk factors for risk prediction of 8 cancers in the UK Biobank
PMID: 38366150

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
PMID: 32341527

Common Germline Risk Variants Impact Somatic Alterations and Clinical Features across Cancers
PMID: 36286845

GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer
PMID: 27008869

Five endometrial cancer risk loci identified through genome-wide association analysis
PMID: 27135401

Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach
PMID: 35554533

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
PMID: 27117709

Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women
PMID: 34234117

A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry
PMID: 37559094

A Genome-Wide Association Study Identifies Two Novel Susceptible Regions for Squamous Cell Carcinoma of the Head and Neck
PMID: 32276964

A Genome-Wide Association Study Identifies Two Novel Susceptible Regions for Squamous Cell Carcinoma of the Head and Neck
PMID: 32276964

Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer
PMID: 38832928

Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility
PMID: 29196614

Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma
PMID: 24149102

Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma
PMID: 30194254

A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus
PMID: 24920014

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma
PMID: 19836008

Polygenic inheritance and its interplay with smoking history in predicting lung cancer diagnosis: a French-Canadian case-control cohort
PMID: 38970920

Common 5p15.33 and 6p21.33 variants influence lung cancer risk
PMID: 18978787

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
PMID: 30104761

Genome-wide association study identifies three new melanoma susceptibility loci
PMID: 21983787

Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma
PMID: 28212542

The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma
PMID: 23502783

Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma
PMID: 26007630

Deciphering the genetics and mechanisms of predisposition to multiple myeloma
PMID: 39103364

Common variants at 19p13 are associated with susceptibility to ovarian cancer
PMID: 20852633

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer
PMID: 23535730

Pooling-based genome-wide association study implicates gamma-glutamyltransferase 1 (GGT1) gene in pancreatic carcinogenesis
PMID: 20484958

A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer
PMID: 33517887

Assessment of polygenic risk score performance in East Asian populations for ten common diseases
PMID: 40045046

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer
PMID: 23104005

Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study
PMID: 21743467

Sequence variants at 22q13 are associated with prostate cancer risk
PMID: 19117981

Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14
PMID: 23666240

The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl
PMID: 20350937

Association Between Genetic Risk, Adherence to Healthy Lifestyle Behavior, and Thyroid Cancer Risk
PMID: 36508215

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
PMID: 24325915

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer
PMID: 18794855

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer
PMID: 20348956

Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts
PMID: 36777179

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• Yoshida, Tadashi, and Patrice Delafontaine. "Mechanisms of IGF-1-mediated regulation of skeletal muscle hypertrophy and atrophy." Cells9 (2020): 1970.
• Ginevičienė, Valentina, et al. "Variants in the Myostatin Gene and Physical Performance Phenotype of Elite Athletes." Genes5 (2021): 757.
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• Nie, Guanghua, et al. "Additional evidence supports association of common genetic variants in MMP3 and TIMP2 with increased risk of chronic Achilles tendinopathy susceptibility." Journal of Science and Medicine in Sport10 (2019): 1074-1078.
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ExPRSweb: An online repository with polygenic risk scores for common health-related exposures
PMID: 36152628

Genome-wide association study of height and body mass index in Australian twin families
PMID: 20397748

FTO genotype is associated with phenotypic variability of body mass index
PMID: 22982992

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course
PMID: 23669352

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
PMID: 20935630

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children
PMID: 24348519

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
PMID: 26426971

CLOCK gene is implicated in weight reduction in obese patients participating in a dietary programme based on the Mediterranean diet
PMID: 20065968

A genome-wide association study of bitter and sweet beverage consumption
PMID: 31046077

Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations
PMID: 32193382

Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption
PMID: 25288136

Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption
PMID: 21357676

Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM
PMID: 21876539

Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption
PMID: 21490707

The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12
PMID: 20675712

GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics
PMID: 23966204

GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics
PMID: 23966204

A generalized linear mixed model association tool for biobank-scale data
PMID: 34737426

Genetic analysis of dietary intake identifies new loci and functional links with metabolic traits
PMID: 34426670

Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium
PMID: 29988085

Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior
PMID: 27702941

Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens
PMID: 24962563

Whole-genome sequencing of 490,640 UK Biobank participants
PMID: 40770095

Genome-wide association study of circulating retinol levels
PMID: 21878437

Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study
PMID: 19185284

Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations
PMID: 19303062

Common variants of FUT2 are associated with plasma vitamin B12 levels
PMID: 18776911

Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets
PMID: 23754956

Genome-wide association study of circulating vitamin D levels
PMID: 20418485

Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study
PMID: 25208829

Genetic Risk Score for Serum 25-Hydroxyvitamin D Concentration Helps to Guide Personalized Vitamin D Supplementation in Healthy Finnish Adults
PMID: 33382404

Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels
PMID: 29343764

Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels
PMID: 35050183

Meta-analysis of genome-wide association studies for circulating phylloquinone concentrations
PMID: 25411281

Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction
PMID: 38351177

Genome-wide association study of serum minerals levels in children of different ethnic background
PMID: 25886283

Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations
PMID: 24068962

Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels
PMID: 20705733

Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank
PMID: 33887147

Genome-wide association study identifies loci affecting blood copper, selenium and zinc
PMID: 23720494

Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans
PMID: 35501403

Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children
PMID: 26685716

Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels
PMID: 20700443

Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes
PMID: 29093028

Genome-wide association study of selenium concentrations
PMID: 25343990

Genome-Wide Association Study of Response to Selenium Supplementation and Circulating Selenium Concentrations in Adults of European Descent
PMID: 33382417

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
PMID: 39024449

Common genetic variants associate with serum phosphorus concentration
PMID: 20558539

Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases
PMID: 27149984

A Common Variant in the SETD7 Gene Predicts Serum Lycopene Concentrations
PMID: 26861389

A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population
PMID: 26584805

A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis
PMID: 33536631

Characterising the genetic architecture of changes in adiposity during adulthood using electronic health records
PMID: 38987242

Genome wide association study identifies KCNMA1 contributing to human obesity
PMID: 21708048

Genome-wide population-based association study of extremely overweight young adults--the GOYA study
PMID: 21935397

A genome-wide association study on obesity and obesity-related traits
PMID: 21552555

A genome-wide association meta-analysis identifies new childhood obesity loci
PMID: 22484627

Genome-wide association studies and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating polyunsaturated, monounsaturated, and saturated fatty acids
PMID: 39606376

Genome-Wide Association Study of Obstructive Sleep Apnea and Objective Sleep-related Traits Identifies Novel Risk Loci in Han Chinese Individuals
PMID: 35819321

Genome-wide meta-analysis revealed several genetic loci associated with serum uric acid levels in Korean population: an analysis of Korea Biobank data
PMID: 34719683

Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia
PMID: 22229870

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations
PMID: 19503597

Observational or Genetically Predicted Higher Vegetable Intake and Kidney Function Impairment: An Integrated Population-Scale Cross-Sectional Analysis and Mendelian Randomization Study
PMID: 33693791

Genomic atlas of the human plasma proteome
PMID: 29875488

Mapping the proteo-genomic convergence of human diseases
PMID: 34648354

European and African-specific plasma protein-QTL and metabolite-QTL analyses identify ancestry-specific T2D effector proteins and metabolites
PMID: 39108494

A scalable variational inference approach for increased mixed-model association power
PMID: 39789286

Efficient candidate drug target discovery through proteogenomics in a Scottish cohort
PMID: 40883583

Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing
PMID: 36349687

Genetic determinants of plasma protein levels in the Estonian population
PMID: 38565889

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• Chen, Y., et al. "A genome‐wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans." British Journal of Dermatology5 (2021): 988-998.
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• Schuck, Desirée C., et al. "Unraveling the molecular and cellular mechanisms of stretch marks." Journal of cosmetic dermatology1 (2020): 190-198.
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• Fallahpour, Masoumeh, Rohullah Abdullahpour, and Farkhondeh Nemati. "Association of C677T polymorphism in methylenetetrahydrofolate reductase (MTHFR) with varicose veins in Mazandaran population." Razi Journal of Medical Sciences7 (2018): 18-26.
• Wilmanns, Christoph, et al. "Morphology and progression in primary varicose vein disorder due to 677C> T and 1298A> C variants of MTHFR." EBioMedicine2 (2015): 158-164.
• Mitchell, Brittany L., et al. "Genome-wide association meta-analysis identifies 29 new acne susceptibility loci." Nature communications1 (2022): 1-9.
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• Eck, Peter. "Nutrigenomics of vitamin C absorption and transport." Current Opinion in Food Science 20 (2018): 100-104
• Jones, Patrice, et al. "Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations." Genes & Nutrition1 (2020): 1-11.
• Takeuchi, Masanobu, et al. "CYP2C9, VKORC1, and CYP4F2 polymorphisms and pediatric warfarin maintenance dose: a systematic review and meta-analysis." The Pharmacogenomics Journal2 (2020): 306-319.

• Voigtmann, Franziska, et al. "Identification of a novel leptin receptor (LEPR) variant and proof of functional relevance directing treatment decisions in patients with morbid obesity." Metabolism116 (2021): 154438.
• Namjou, Bahram, et al. "Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants." International Journal of Obesity1 (2021): 155-169.
• Yu, Keping, et al. "Association between MC4R rs17782313 genotype and obesity: A meta-analysis." Gene733 (2020): 144372.
• Horikawa, Yukio. "Maturity‐onset diabetes of the young as a model for elucidating the multifactorial origin of type 2 diabetes mellitus." Journal of diabetes investigation4 (2018): 704-712.
• Yahaya, Tajudeen O., and Titilola F. Salisu. "A review of type 2 diabetes mellitus predisposing genes." Current diabetes reviews1 (2020): 52-61.
• Jiao, Yu-rui, et al. "5-HTT, BMPR2, EDN1, ENG, KCNA5 gene polymorphisms and susceptibility to pulmonary arterial hypertension: A meta-analysis." Gene680 (2019): 34-42.
• Noureldin, Mahmoud, Honghong Chen, and Donglin Bai. "Functional characterization of novel atrial fibrillation-linked GJA5 (Cx40) mutants." International journal of molecular sciences4 (2018): 977.
• Wilde, Arthur AM, and Ahmad S. Amin. "Clinical spectrum of SCN5A mutations: long QT syndrome, Brugada syndrome, and cardiomyopathy." JACC: Clinical Electrophysiology5 (2018): 569-579.
• Carrasquilla, Germán D., Malene Revsbech Christiansen, and Tuomas O. Kilpeläinen. "The Genetic Basis of Hypertriglyceridemia." Current atherosclerosis reports8 (2021): 1-10.
• Esteve-Luque, Virginia, et al. "Implication between Genetic Variants from APOA5 and ZPR1 and NAFLD Severity in Patients with Hypertriglyceridemia." Nutrients2 (2021): 552.
• Kovalic, Alexander J., et al. "Genetic and epigenetic culprits in the pathogenesis of nonalcoholic fatty liver disease." Journal of clinical and experimental hepatology4 (2018): 390-402.
• Kostopoulou, Eirini, Konstantinos Miliordos, and Bessie Spiliotis. "Genetics of primary congenital hypothyroidism—a review." Hormones2 (2021): 225-236.
• Lauffer, Peter, et al. "Mild isolated congenital central hypothyroidism due to a novel homozygous variant in TSHB: a case report." Thyroidja (2022).
• Kaur, Sukhvinder, et al. "Role of single nucleotide polymorphisms (SNPs) in common migraine." The Egyptian Journal of Neurology, Psychiatry and Neurosurgery1 (2019): 1-7.
• Guo, Yanjun, et al. "A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine." Nature communications1 (2020): 1-11.
• Qiu, Shenqiang, et al. "Identification of differentially expressed genes and pathways crosstalk analysis in Rheumatoid and Osteoarthritis using next-generation sequencing and protein-protein networks." Saudi Journal of Biological Sciences8 (2021): 4656-4663.
• Trajanoska, Katerina, and Fernando Rivadeneira. "The genetic architecture of osteoporosis and fracture risk." Bone126 (2019): 2-10.
• Rivadeneira, Fernando, and André G. Uitterlinden. "Osteoporosis genes identified by genome-wide association studies." Genetics of Bone Biology and Skeletal Disease. Academic Press, 2018. 377-395.
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Genome-wide Association Study Shows That Executive Functioning Is Influenced by GABAergic Processes and Is a Neurocognitive Genetic Correlate of Psychiatric Disorders
PMID: 36150907

Significant sparse polygenic risk scores across 813 traits in UK Biobank
PMID: 35324888

Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort
PMID: 34995502

"The Heidelberg Five" personality dimensions: Genome-wide associations, polygenic risk for neuroticism, and psychopathology 20 years after assessment
PMID: 33590662

Hierarchical investigation of genetic influences on response inhibition in healthy young adults
PMID: 29251981

Genome-Wide Association Study of Latent Cognitive Measures in Adolescence: Genetic Overlap with Intelligence and Education
PMID: 31598132

Genome-wide Association Study of Dimensional Psychopathology Using Electronic Health Records
PMID: 29496196

Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151)
PMID: 27046643

Polygenic risk score, genome-wide association, and gene set analyses of cognitive domain deficits in schizophrenia
PMID: 29907492

A general dimension of genetic sharing across diverse cognitive traits inferred from molecular data
PMID: 32895543

Population-based genome-wide association study of cognitive decline in older adults free of dementia: identification of a novel locus for the attention domain
PMID: 30954325

Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline
PMID: 40374629

Exome sequencing and analysis of 454,787 UK Biobank participants
PMID: 34662886

Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
PMID: 40968291

Leveraging fine-mapping and multipopulational training data to improve cross-population polygenic risk scores
PMID: 35393596

Polygenic scoring accuracy varies across the genetic ancestry continuum in all human populations
PMID: 37198491

A Genome-Wide Association Study of Attention Function in a Population-Based Sample of Children
PMID: 27656889

New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder
PMID: 26174813

Meta-analysis of age-related cognitive decline reveals a novel locus for the attention domain and implicates a COVID-19-related gene for global cognitive function
PMID: 37089073

BAIAP2 is related to emotional modulation of human memory strength
PMID: 24392092

Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium
PMID: 25648963

A genome-wide survey and functional brain imaging study identify CTNNBL1 as a memory-related gene
PMID: 22105620

Genetic variants specific to aging-related verbal memory: Insights from GWASs in a population-based cohort
PMID: 28800603

Multi-level genomic analyses suggest new genetic variants involved in human memory
PMID: 29970928

Sex-specific genetic architecture of late-life memory performance
PMID: 37984853

A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores
PMID: 37349795

Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning
PMID: 35974141

Genome-wide interaction study with major depression identifies novel variants associated with cognitive function
PMID: 34782712

Genome-Wide Association Study Identifies SLAMF1 Affecting the Rate of Memory Decline
PMID: 31985465

Genome-wide association study of working memory brain activation
PMID: 27671502

A genome-wide survey of human short-term memory
PMID: 20038948

A genome-wide association study identified new variants associated with mathematical abilities in Chinese children
PMID: 36811322

A genome-wide association study for reading and language abilities in two population cohorts
PMID: 23738518

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia
PMID: 30741946

Association between genes regulating neural pathways for quantitative traits of speech and language disorders
PMID: 34315907

Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
PMID: 35998220

Identification of Genetic Loci Jointly Influencing Schizophrenia Risk and the Cognitive Traits of Verbal-Numerical Reasoning, Reaction Time, and General Cognitive Function
PMID: 28746715

The impact of early adversity and education on genetic and brain morphological predictors of cognitive ability
PMID: 37403260

Genome-wide Association Study of Creativity Reveals Genetic Overlap With Psychiatric Disorders, Risk Tolerance, and Risky Behaviors
PMID: 32133506

Genome-wide association analyses using machine learning-based phenotyping reveal genetic architecture of occupational creativity and overlap with psychiatric disorders
PMID: 38335777

A genome-wide association study of occupational creativity and its relations with well-being and career success
PMID: 39237691

Genome-wide association study of emotional empathy in children
PMID: 32366958

Genome-wide association study of facial emotion recognition in children and association with polygenic risk for mental health disorders
PMID: 28608620

A genome-wide linkage and association study of musical aptitude identifies loci containing genes related to inner ear development and neurocognitive functions
PMID: 24614497

Salt-inducible kinase 3, SIK3, is a new gene associated with hearing
PMID: 25060954

Genome-wide polygenic risk score for retinopathy of type 2 diabetes
PMID: 33704450

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
PMID: 39024449

Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort
PMID: 34995502

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
PMID: 19430480

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci
PMID: 21980299

Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes
PMID: 32005708

Analysis of overlapping genetic association in type 1 and type 2 diabetes
PMID: 33830302

A multi-ancestry genome-wide association study in type 1 diabetes
PMID: 38453145

ExPRSweb: An online repository with polygenic risk scores for common health-related exposures
PMID: 36152628

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
PMID: 17463246

Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes
PMID: 34737425

Variants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population
PMID: 37377600

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
PMID: 22885922

Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes
PMID: 29358691

Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively
PMID: 26961502

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
PMID: 28566273

Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes
PMID: 38182742

GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification
PMID: 37679419

Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases
PMID: 38508198

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways
PMID: 20858683

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis
PMID: 28898252

The trans-ancestral genomic architecture of glycemic traits
PMID: 34059833

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance
PMID: 22581228

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
PMID: 20081858

Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits
PMID: 27329260

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
PMID: 30104761

A generalized linear mixed model association tool for biobank-scale data
PMID: 34737426

Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of type 2 diabetes with cataract
PMID: 20664687

First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes
PMID: 30254083

Aggregation of Genome-Wide Association Data from FinnGen and UK Biobank Replicates Multiple Risk Loci for Pregnancy Complications
PMID: 30254083

Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes
PMID: 35220425

Metabolomic and genetic architecture of gestational diabetes subtypes
PMID: 38367033

SORBS1 gene, a new candidate for diabetic nephropathy: results from a multi-stage genome-wide association study in patients with type 1 diabetes
PMID: 25476525

Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes
PMID: 19252134

New susceptibility loci associated with kidney disease in type 1 diabetes
PMID: 23028342

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes
PMID: 29703844

Nidogen-1 could play a role in diabetic kidney disease development in type 2 diabetes: a genome-wide association meta-analysis
PMID: 36271454

The Genetic Landscape of Renal Complications in Type 1 Diabetes
PMID: 27647854

A genome-wide association study implicates that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity
PMID: 31264924

Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy
PMID: 29739359

Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control
PMID: 30487263

Genomic atlas of the human plasma proteome
PMID: 29875488

Rare variant associations with plasma protein levels in the UK Biobank
PMID: 37794183

Connecting genetic risk to disease end points through the human blood plasma proteome
PMID: 28240269

A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants
PMID: 28490609

Genome-wide association study of fasting proinsulin, fasting insulin, 2-hour postprandial proinsulin, and 2-hour postprandial insulin
PMID: 35971929

Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis
PMID: 36206743

A central role for GRB10 in regulation of islet function in man
PMID: 24699409

Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci
PMID: 27416945

Genomic atlas of the human plasma proteome
PMID: 29875488

Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations
PMID: 36168886

Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction
PMID: 38351177

Reproducible Genetic Risk Loci for Anxiety: Results From ∼200,000 Participants in the Million Veteran Program
PMID: 31906708

A major role for common genetic variation in anxiety disorders
PMID: 31748690

Genome-wide and gene-based association studies of anxiety disorders in European and African American samples
PMID: 25390645

Meta-analysis of genome-wide association studies of anxiety disorders
PMID: 26857599

Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study
PMID: 39294497

Genetic Variants Associated With Anxiety and Stress-Related Disorders: A Genome-Wide Association Study and Mouse-Model Study
PMID: 31116379

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
PMID: 30104761

Testing associations between human anxiety and genes previously implicated by mouse anxiety models
PMID: 37259642

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
PMID: 39024449

Associations of polygenic risk for attention-deficit/hyperactivity disorder with general and specific dimensions of childhood psychological problems and facets of impulsivity
PMID: 35752070

Genome-wide analysis of attention deficit hyperactivity disorder in Norway
PMID: 25875332

Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder
PMID: 25284319

Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder
PMID: 20732625

Family-based genome-wide association scan of attention-deficit/hyperactivity disorder
PMID: 20732626

Case-control genome-wide association study of attention-deficit/hyperactivity disorder
PMID: 20732627

Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits
PMID: 23527680

Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies
PMID: 18839057

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
PMID: 30478444

Sex-specific genetic association between psychiatric disorders and cognition, behavior and brain imaging in children and adults
PMID: 36028495

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
PMID: 25534755

Common genetic variants on 1p13.2 associate with risk of autism
PMID: 24189344

A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale
PMID: 22935194

A genome-wide linkage and association scan reveals novel loci for autism
PMID: 19812673

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1
PMID: 19456320

A genome-wide scan for common alleles affecting risk for autism
PMID: 20663923

Both rare and common genetic variants contribute to autism in the Faroe Islands
PMID: 30675382

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
PMID: 28540026

Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders
PMID: 33479212

Identification of common genetic risk variants for autism spectrum disorder
PMID: 30804558

Genome-wide association study identifies 30 loci associated with bipolar disorder
PMID: 31043756

Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1
PMID: 24387768

A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder
PMID: 22925353

Common and rare variant analysis in early-onset bipolar disorder vulnerability
PMID: 25111785

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
PMID: 21926972

Genome-wide association study reveals two new risk loci for bipolar disorder
PMID: 24618891

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
PMID: 34002096

Patterns of Convergence and Divergence Between Bipolar Disorder Type I and Type II: Evidence From Integrative Genomic Analyses
PMID: 35912095

Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort
PMID: 34995502

Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
PMID: 40968291

Understanding genetic risk factors for common side effects of antidepressant medications
PMID: 35602235

Genome-wide association study of recurrent early-onset major depressive disorder
PMID: 20125088

Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies
PMID: 20038947

Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts
PMID: 19107115

Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies
PMID: 23377640

Genome-wide association-, replication-, and neuroimaging study implicates HOMER1 in the etiology of major depression
PMID: 20673876

Genome-wide association study of major recurrent depression in the U.K. population
PMID: 20516156

A mega-analysis of genome-wide association studies for major depressive disorder
PMID: 22472876

Comparative genetic architectures of schizophrenia in East Asian and European populations
PMID: 31740837

Wnt receptor gene FZD1 was associated with schizophrenia in genome-wide SNP analysis of the Australian Schizophrenia Research Bank cohort
PMID: 31735061

Biological insights from 108 schizophrenia-associated genetic loci
PMID: 25056061

Genome-wide association study identifies five new schizophrenia loci
PMID: 21926974

Two non-synonymous markers in PTPN21, identified by genome-wide association study data-mining and replication, are associated with schizophrenia
PMID: 21752600

Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms
PMID: 23212062

Genetic aetiology of self-harm ideation and behaviour
PMID: 32546850

Investigating evidence for a causal association between inflammation and self-harm: A multivariable Mendelian Randomisation study
PMID: 32473944

Genetic variants associated with disordered eating
PMID: 23568457

Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS
PMID: 24821223

Sex differences in the genetic architecture of obsessive-compulsive disorder
PMID: 30456828

Genome-wide association study of pediatric obsessive-compulsive traits: shared genetic risk between traits and disorder
PMID: 33531474

Identifying risk loci for obsessive-compulsive disorder and shared genetic component with schizophrenia: A large-scale multi-trait association analysis with summary statistics
PMID: 38043635

A genome-wide association study of anorexia nervosa
PMID: 24514567

A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa
PMID: 21079607

Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa
PMID: 28494655

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
PMID: 31308545

Disentangling differing relationships between internalizing disorders and alcohol use
PMID: 38375614

Novel genome-wide associations for anhedonia, genetic correlation with psychiatric disorders, and polygenic association with brain structure
PMID: 31797917

Genes associated with anhedonia: a new analysis in a large clinical trial (GENDEP)
PMID: 30104601

Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene
PMID: 25456346

Genome-wide association study implicates a novel RNA gene, the lincRNA AC068718.1, as a risk factor for post-traumatic stress disorder in women
PMID: 24080187

Using phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder
PMID: 35181757

Genomic risk for post-traumatic stress disorder in families densely affected with alcohol use disorders
PMID: 37344610

Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder
PMID: 38637617

Genome-wide association study of panic disorder reveals genetic overlap with neuroticism and depression
PMID: 31712720

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
PMID: 30104761

Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia
PMID: 28632202

Genome-wide association analysis of insomnia using data from Partners Biobank
PMID: 32332799

Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits
PMID: 28604731

Genome-wide analysis of insomnia disorder
PMID: 29520036

A generalized linear mixed model association tool for biobank-scale data
PMID: 34737426

Genetic associations with psychosis and affective disturbance in Alzheimer's disease
PMID: 38784964

Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning
PMID: 38908374

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease
PMID: 34493870

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
PMID: 28714976

Identification of genetic heterogeneity of Alzheimer's disease across age
PMID: 30979435

Genome-wide analysis of genetic loci associated with Alzheimer disease
PMID: 20460622

Variant of TREM2 associated with the risk of Alzheimer's disease
PMID: 23150908

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
PMID: 24162737

Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans
PMID: 35253861

Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.
PMID: 18941528

MGAT5 alters the severity of multiple sclerosis
PMID: 20117844

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
PMID: 19525955

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
PMID: 21833088

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
PMID: 24076602

A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility
PMID: 35545683

Systematic comparison of family history and polygenic risk across 24 common diseases
PMID: 36347255

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
PMID: 30531953

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
PMID: 37653029

Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy
PMID: 34573423

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies
PMID: 25087078

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
PMID: 22949513

Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases
PMID: 38508198

Genome-wide meta-analysis identifies new susceptibility loci for migraine
PMID: 23793025

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1
PMID: 20802479

Meta-analysis of genome-wide association for migraine in six population-based European cohorts
PMID: 21448238

Genome-wide association study reveals three susceptibility loci for common migraine in the general population
PMID: 21666692

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
PMID: 27322543

New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis
PMID: 34294844

Identification of a novel Parkinson's disease locus via stratified genome-wide association study
PMID: 24511991

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
PMID: 25064009

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
PMID: 21292315

Genome-wide Association Analysis of Parkinson's Disease and Schizophrenia Reveals Shared Genetic Architecture and Identifies Novel Risk Loci
PMID: 32201043

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
PMID: 31701892

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci
PMID: 28892059

Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1
PMID: 20081856