Anubha Mahajan
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Human genetics researcher
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Biology
Anubha Mahajan's Degrees
- PhD Genetics Stanford University
- Masters Biotechnology University of California, San Francisco
- Bachelors Biology University of California, Berkeley
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Why Is Anubha Mahajan Influential?
(Suggest an Edit or Addition)According to Wikipedia, Anubha Mahajan is a human genetics researcher whose career has focused on genetic analysis of complex traits, with an emphasis on type 2 diabetes. Mahajan has co-led and led analysis of high-throughput genetic studies as part of large international consortia, such as DIAGRAM, GoT2D, T2D-GENES, and DIAMANTE, that explore the genetic architecture of type 2 diabetes. More recently, she has moved from genetic discovery to utilizing human genetics research to understand the pathophysiological mechanisms that contribute to type 2 diabetes.
Anubha Mahajan's Published Works
Published Works
- Genetic studies of body mass index yield new insights for obesity biology (2015) (3549)
- Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes (2012) (1839)
- Defining the role of common variation in the genomic and biological architecture of adult human height (2014) (1805)
- New genetic loci link adipose and insulin biology to body fat distribution (2014) (1227)
- Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (1028)
- Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility (2014) (933)
- The genetic architecture of type 2 diabetes (2016) (927)
- Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways (2012) (758)
- Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (659)
- Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases (2019) (553)
- An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans (2017) (547)
- The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2015) (532)
- Rare and low-frequency coding variants alter human adult height (2016) (511)
- Mapping the human genetic architecture of COVID-19 (2021) (455)
- Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk (2017) (428)
- Exome-wide association study of plasma lipids in >300,000 individuals (2017) (428)
- Multi-ethnic genome-wide association study for atrial fibrillation (2018) (425)
- FTO genotype is associated with phenotypic variability of body mass index (2012) (407)
- Loss-of-function mutations in SLC30A8 protect against type 2 diabetes (2014) (405)
- Genome-wide associations for birth weight and correlations with adult disease (2016) (371)
- Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci (2015) (349)
- Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. (2016) (309)
- 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 (2017) (308)
- New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism (2012) (300)
- The impact of low-frequency and rare variants on lipid levels (2015) (300)
- Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2017) (294)
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure (2020) (288)
- PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study (2017) (283)
- Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors (2018) (269)
- New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. (2018) (257)
- Genetic landscape of the people of India: a canvas for disease gene exploration (2008) (254)
- A catalog of genetic loci associated with kidney function from analyses of a million individuals (2019) (252)
- Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. (2016) (245)
- New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk (2016) (242)
- Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria (2018) (241)
- Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension (2016) (234)
- Using human genetics to understand the disease impacts of testosterone in men and women (2020) (228)
- Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. (2018) (221)
- Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease (2017) (204)
- Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity (2017) (193)
- Impact of Common Variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the Risk of Type 2 Diabetes in 5,164 Indians (2010) (188)
- Identification of type 2 diabetes loci in 433,540 East Asian individuals (2019) (188)
- Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels (2019) (183)
- Mining literature for a comprehensive pathway analysis: A case study for retrieval of homocysteine related genes for genetic and epigenetic studies (2006) (169)
- Genome-Wide Association Study for Type 2 Diabetes in Indians Identifies a New Susceptibility Locus at 2q21 (2013) (164)
- Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2017) (153)
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (153)
- The Trans-Ancestral Genomic Architecture of Glycemic Traits (2020) (151)
- Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits (2017) (149)
- Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels (2016) (147)
- Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine (2019) (137)
- Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations (2013) (130)
- The power of genetic diversity in genome-wide association studies of lipids (2021) (129)
- Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution (2017) (122)
- Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition (2018) (121)
- The Indian Genome Variation database (IGVdb): a project overview (2005) (121)
- Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney (2017) (121)
- A novel common variant in DCST2 is associated with length in early life and height in adulthood (2014) (112)
- Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation (2015) (110)
- Genome Wide Association Identifies Common Variants at the SERPINA6/SERPINA1 Locus Influencing Plasma Cortisol and Corticosteroid Binding Globulin (2014) (106)
- Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation (2016) (100)
- A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. (2018) (100)
- Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus (2015) (98)
- Clinical and genetic correlates of growth differentiation factor 15 in the community. (2012) (96)
- Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci (2017) (94)
- Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids (2019) (93)
- Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies (2019) (92)
- Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (91)
- Genome-wide association study of toxic metals and trace elements reveals novel associations (2015) (90)
- Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation (2020) (88)
- Causal relationships between obesity and the leading causes of death in women and men (2019) (86)
- Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria (2019) (86)
- A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants (2017) (85)
- High-sensitivity C-reactive protein levels and type 2 diabetes in urban North Indians. (2009) (83)
- Genetic loci associated with heart rate variability and their effects on cardiac disease risk (2017) (80)
- Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation (2015) (72)
- Association of vitamin D with risk of type 2 diabetes: A Mendelian randomisation study in European and Chinese adults (2018) (69)
- Associations of autozygosity with a broad range of human phenotypes (2019) (68)
- PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION (2018) (67)
- Common variants of FTO and the risk of obesity and type 2 diabetes in Indians (2011) (67)
- Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D (2020) (65)
- A saturated map of common genetic variants associated with human height (2022) (65)
- Genome-Wide and Abdominal MRI Data Provide Evidence That a Genetically Determined Favorable Adiposity Phenotype Is Characterized by Lower Ectopic Liver Fat and Lower Risk of Type 2 Diabetes, Heart Disease, and Hypertension (2018) (63)
- Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity (2016) (62)
- A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape (2016) (59)
- ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response (2019) (59)
- Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2020) (58)
- Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (55)
- Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene. (2015) (53)
- Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (2020) (53)
- Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene. (2016) (52)
- New Blood Pressure–Associated Loci Identified in Meta-Analyses of 475 000 Individuals (2017) (50)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (45)
- A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
- Oligonucleotide properties determination and primer designing: a critical examination of predictions (2005) (43)
- Elevated levels of C-reactive protein as a risk factor for metabolic syndrome in Indians. (2012) (42)
- Genome-wide association study of type 2 diabetes in Africa (2019) (41)
- Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes (2021) (41)
- Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells (2018) (41)
- Predicting and elucidating the etiology of fatty liver disease: A machine learning modeling and validation study in the IMI DIRECT cohorts (2020) (40)
- Association of variants in genes involved in pancreatic β-cell development and function with type 2 diabetes in North Indians (2011) (40)
- Evaluation of type 2 diabetes genetic risk variants in Chinese adults: findings from 93,000 individuals from the China Kadoorie Biobank (2016) (40)
- Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration (2018) (39)
- Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction (2019) (38)
- Consortium IGVThe Indian Genome Variation database (IGVdb): a project overview. Hum Genet 118:1-11 (2005) (38)
- Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2016) (37)
- Integrative network analysis highlights biological processes underlying GLP-1 stimulated insulin secretion: A DIRECT study (2018) (36)
- Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts (2020) (35)
- Obesity-dependent association of TNF-LTA locus with type 2 diabetes in North Indians (2010) (35)
- Habitual coffee consumption and cognitive function: a Mendelian randomization meta-analysis in up to 415,530 participants (2018) (35)
- Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. (2016) (34)
- Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data (2018) (34)
- Guidance for the utility of linear models in meta-analysis of genetic association studies of binary phenotypes (2016) (31)
- Genetic Predisposition to Type 2 Diabetes and Risk of Subclinical Atherosclerosis and Cardiovascular Diseases Among 160,000 Chinese Adults (2019) (31)
- Meta-analysis of exome array data identifies six novel genetic loci for lung function (2017) (31)
- Variation in the Plasma Membrane Monoamine Transporter (PMAT) (Encoded by SLC29A4) and Organic Cation Transporter 1 (OCT1) (Encoded by SLC22A1) and Gastrointestinal Intolerance to Metformin in Type 2 Diabetes: An IMI DIRECT Study (2018) (30)
- Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour (2021) (29)
- Evaluation of DOK5 as a susceptibility gene for type 2 diabetes and obesity in North Indian population (2010) (29)
- Genome-wide DNA methylation study identifies genes associated with the cardiovascular biomarker GDF-15. (2016) (29)
- Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: descriptive characteristics of the epidemiological studies within the IMI DIRECT Consortium (2019) (26)
- Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
- Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9 (2018) (25)
- A Meta-Analysis of Genome-Wide Association Studies of Growth Differentiation Factor-15 Concentration in Blood (2018) (25)
- The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia: design, results and future prospects (2019) (24)
- Effects of apolipoprotein B on lifespan and risks of major diseases including type 2 diabetes: a mendelian randomisation analysis using outcomes in first-degree relatives (2020) (23)
- Genetic Association, Post-translational Modification, and Protein-Protein Interactions in Type 2 Diabetes Mellitus*S (2005) (23)
- Homogeneity in the association of body mass index with type 2 diabetes across the UK Biobank: A Mendelian randomization study (2019) (23)
- Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms (2016) (23)
- Bone mineral density and risk of type 2 diabetes and coronary heart disease: A Mendelian randomization study (2017) (22)
- Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
- Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study (2022) (22)
- Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals (2019) (22)
- Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants (2022) (22)
- Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease (2021) (22)
- Structural Modification of Proteins and Peptides (2014) (21)
- RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro (2020) (21)
- Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation (2020) (20)
- Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2017) (20)
- Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology. (2019) (19)
- Genome-Wide Association Studies of Estimated Fatty Acid Desaturase Activity in Serum and Adipose Tissue in Elderly Individuals: Associations with Insulin Sensitivity (2018) (19)
- Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration (2019) (19)
- Early Metabolic Features of Genetic Liability to Type 2 Diabetes: Cohort Study With Repeated Metabolomics Across Early Life (2019) (18)
- A Multi-omic Integrative Scheme Characterizes Tissues of Action at Loci Associated with Type 2 Diabetes (2020) (17)
- Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (17)
- Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene. (2004) (17)
- Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes (2019) (17)
- Identification and Functional Characterization of G 6 PC 2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G 6 PC 2-ABCB 11 Locus (2015) (16)
- A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies. (2020) (16)
- Association analysis of TNFRSF1B polymorphisms with type 2 diabetes and its related traits in North India (2008) (16)
- The value of genetic risk scores in precision medicine for diabetes (2018) (15)
- Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity (2020) (14)
- Genetic analysis of over one million people identifies 535 novel loci for blood pressure (2017) (14)
- Common variants of SLAMF1 and ITLN1 on 1q21 are associated with type 2 diabetes in Indian population (2012) (14)
- Sex Differences in the Risk of Coronary Heart Disease Associated With Type 2 Diabetes: A Mendelian Randomization Analysis (2020) (14)
- Response to Comment on: Chauhan et al. (2010) Impact of Common Variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the Risk of Type 2 Diabetes in 5,164 Indians. Diabetes;59:2068–2074 (2010) (13)
- Common Variants in CRP and LEPR Influence High Sensitivity C-Reactive Protein Levels in North Indians (2011) (13)
- Analysis of overlapping genetic association in type 1 and type 2 diabetes (2020) (12)
- Identification of type 2 diabetes loci in 433,540 East Asian individuals (2020) (12)
- Fine-scale population structure in the UK Biobank: implications for genome-wide association studies. (2020) (12)
- New genetic signals for lung function highlight pathways and pleiotropy, and chronic obstructive pulmonary disease associations across multiple ancestries (2018) (12)
- Processes Underlying Glycemic Deterioration in Type 2 Diabetes: An IMI DIRECT Study (2020) (11)
- Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample (2015) (10)
- No association of TNFRSF1B variants with type 2 diabetes in Indians of Indo-European origin (2011) (10)
- Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians (2007) (10)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (10)
- Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus (2020) (9)
- Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation (2019) (9)
- Genetic variation in the CYP2B6 Gene is related to circulating 2,2’,4,4’-tetrabromodiphenyl ether (BDE-47) concentrations: an observational population-based study (2014) (9)
- Profiles of Glucose Metabolism in Different Prediabetes Phenotypes, Classified by Fasting Glycemia, 2-Hour OGTT, Glycated Hemoglobin, and 1-Hour OGTT: An IMI DIRECT Study (2021) (9)
- Genome-Wide Association Study of Peripheral Artery Disease (2021) (9)
- Genetic and methylation variation in the CYP2B6 gene is related to circulating p,p′-dde levels in a population-based sample (2017) (9)
- Correction: Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2017) (9)
- Pharmacogenomics of GLP-1 Receptor Agonists: A genome-wide analysis of observational data and large randomized controlled trials (2022) (8)
- Abstract 22: Influence of Smoking and Sex on Genetic Associations of Body Fat Distribution: The Giant (Genetic Investigation of ANthropometric Traits) Consortium (2014) (8)
- Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits : (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x) (2018) (8)
- The role of physical activity in metabolic homeostasis before and after the onset of type 2 diabetes: an IMI DIRECT study (2020) (8)
- Aetiological differences between novel subtypes of diabetes derived from genetic associations (2020) (7)
- Identification of genetic effects underlying type 2 diabetes in South Asian and European populations (2022) (7)
- Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2016) (7)
- Genetic effects on the timing of parturition and links to fetal birth weight (2022) (6)
- Large-Scale Analyses Provide No Evidence for Gene-Gene Interactions Influencing Type 2 Diabetes Risk (2020) (6)
- Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition (2018) (6)
- Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries (2018) (6)
- Erratum: Genetic loci associated with heart rate variability and their effects on cardiac disease risk (2017) (6)
- Whole blood co-expression modules associate with metabolic traits and type 2 diabetes: an IMI-DIRECT study (2020) (6)
- A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids (2021) (6)
- Evaluating human genetic support for hypothesized metabolic disease genes. (2022) (6)
- Multifaceted genome-wide study identifies novel regulatory loci in SLC22A11 and ZNF45 for body mass index in Indians (2020) (5)
- Multifaceted genome-wide study identifies novel regulatory loci in SLC22A11 and ZNF45 for body mass index in Indians (2020) (5)
- Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program (2020) (5)
- Erratum: Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene (American Society for Clinical Investigation (2015)125:4 (1739-1751) DOI 10.1172/JCI74692) (2016) (5)
- Elevated risk of invasive group A streptococcal disease and host genetic variation in the human leucocyte antigen locus (2019) (5)
- Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure (2019) (5)
- Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies (2022) (4)
- Post-load glucose subgroups and associated metabolic traits in individuals with type 2 diabetes: An IMI-DIRECT study (2020) (4)
- Rare Variant Quality Control (2015) (4)
- Correction: Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria (2019) (4)
- Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2018) (4)
- Protein molecular function influences mutation rates in human genetic diseases with allelic heterogeneity. (2011) (4)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (4)
- Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals (2022) (4)
- Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study. (2021) (3)
- The genomics of heart failure: design and rationale of the HERMES consortium (2021) (3)
- Type 2 diabetes sex-specific effects associated with E167K coding variant in TM6SF2 (2021) (3)
- Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: an overview of the data from the epidemiological studies within the IMI DIRECT Consortium (2018) (3)
- Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries (2019) (3)
- Multi-ethnic genome-wide association study for atrial fibrillation (2018) (3)
- Genome-Wide Association Analysis of Pancreatic Beta-Cell Glucose Sensitivity (2020) (3)
- Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies (2019) (3)
- Discovery of drug–omics associations in type 2 diabetes with generative deep-learning models (2023) (2)
- Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk (2023) (2)
- Causal relevance of obesity on the leading causes of death in women and men: A Mendelian randomization study (2019) (2)
- Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids (2019) (2)
- Genome-wide characterization of circulating metabolic biomarkers reveals substantial pleiotropy and novel disease pathways (2022) (2)
- 306-OR: Gene-Environment Interactions for Type 2 Diabetes in UK Biobank (2019) (2)
- Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney (2017) (2)
- The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians (2022) (2)
- Novel missense mutation in the coagulation factor IX catalytic domain associated with severe haemophilia B – Factor IXDelhi (2004) (2)
- A reference map of potential determinants for the human serum metabolome (2020) (1)
- Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (2020) (1)
- Erratum: Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology (The American Journal of Human Genetics (2019) 105(1) (15–28), (S0002929719301880), (10.1016/j.ajhg.2019.05.002)) (2019) (1)
- 3-LB: The Type 2 Diabetes-Associated Transcription Factor RREB1 Affects Beta-Cell Function and Development (2019) (1)
- Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2021) (1)
- 303-OR: ADA Presidents' Select Abstract: Transethnic Association Study of Type 2 Diabetes in More than a Million Individuals (2019) (1)
- RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro (2020) (1)
- Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus (2020) (1)
- Clustering on baseline clinical variables identifies subgroups of type 2 diabetes patients with different rate of progression over 18 months: a DIRECT study (2017) (1)
- Genome-wide physical activity interactions in adiposity (2017) (1)
- Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology. (2019) (1)
- Using human genetics to understand the disease impacts of testosterone in men and women (2020) (1)
- Hair Cortisol in Twins: Heritability and Genetic Overlap with Psychological Variables and Stress-System Genes (2017) (1)
- Dietary metabolite profiling brings new insight into the relationship between nutrition and metabolic risk: An IMI DIRECT study (2020) (1)
- Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution (2019) (1)
- Trans-ethnic genome-wide association study of kidney function provides novel insight into effector genes and causal effects on kidney-specific disease aetiologies (2018) (1)
- Multifaceted genome-wide study identifies novel regulatory loci for body mass index in Indians (2019) (1)
- Discovery and Fine-Mapping of Type 2 Diabetes Susceptibility Loci in Diverse Populations Using More than a Million Individuals (2018) (0)
- Large-scale genome-wide association meta-analysis of the 1000 genomes project imputed data identifies novel susceptibility loci for glycaemic and obesity traits (2013) (0)
- Trans-ancestry meta-analysis improves performance of genetic scores for multiple adiposity-related traits in East Asian populations (2022) (0)
- Multi-ancestry GWAS analysis identifies two novel loci associated with diabetic eye disease and highlights APOL1 as a high risk locus in patients with diabetic macular edema (2023) (0)
- Coding variants in G6PC and G6PC2 identified from large-scale exome array meta-analysis impact on fasting glucose homeostasis through effects on different tissues (2016) (0)
- Copy number variations in “classical” obesity candidate genes are not frequently associated with severe early-onset obesity in children (2017) (0)
- Using genomic information to differentiate diabetes aetiology in young-adult onset diabetes (2015) (0)
- Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (0)
- 1132-P: Genetic Relationships between Birth Weight and Type 2 Diabetes (2021) (0)
- Discovery and fine-mapping of type 2 diabetes susceptibility loci across diverse population (2017) (0)
- Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations (2019) (0)
- Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition (2018) (0)
- Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction (2020) (0)
- 141-OR: Associations between Type 2 Diabetes Partitioned/Process-Specific Polygenic Scores and Metabolic Traits (2022) (0)
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure (2020) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (0)
- Selection of extreme cases and controls as a strategy for efficient whole genome sequencing leads to enriched detection of most known type 2 diabetes susceptibility loci (2011) (0)
- Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels (2019) (0)
- Elevated risk of invasive group A streptococcal disease and host genetic variation in the human leucocyte antigen locus (2019) (0)
- The utility of a type 2 diabetes polygenic score in addition to clinical variables for prediction of type 2 diabetes incidence in birth, youth and adult cohorts in an Indigenous study population (2023) (0)
- Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data (2019) (0)
- Guidance for the utility of linear models in meta-analysis of genetic association studies of binary phenotypes (2016) (0)
- OR05-1 Genetic Discovery and Translational Decision Support from Exome Sequencing of 45,231 Type 2 Diabetes Cases and Controls from Five Ancestries (2019) (0)
- O108 Central adiposity influences serum calcium concentrations and increases risk of kidney stone disease (2022) (0)
- Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
- Author Correction: Discovery of drug-omics associations in type 2 diabetes with generative deep-learning models. (2023) (0)
- Variation in the SERPINA6SERPINA1 locusalters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expressionin peripheral tissues, and risk of cardiovascular disease (2021) (0)
- Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene - eScholarship (2015) (0)
- Evaluation of imputation strategies in Metabochip fine-mapping regions (2012) (0)
- A catalog of genetic loci associated with kidney function from analyses of a million individuals (2019) (0)
- DB120406 977..986 (2013) (0)
- Author Correction: Identification of genetic effects underlying type 2 diabetes in South Asian and European populations (2022) (0)
- Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition (2018) (0)
- 1845-P: Divergent Effects on T2D of Alleles Associated with Increased Liver Fat Reflect Differential Impact on Hepatic Glucose and Lipid Output: An IMI DIRECT Study (2019) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
- The Utility of a Type 2 Diabetes (T2D) Polygenic Score in Addition to Clinical Variables for Prediction of T2D Incidence in Birth, Youth, and Adult Cohorts (2021) (0)
- Fine-mapping type 2 diabetes susceptibility loci with high-density imputation (2014) (0)
- Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
- Discovery and Fine-mapping of Type 2 Diabetes Susceptibility Loci Through Trans-ethnic Meta-analysis (2012) (0)
- 1460-P: Type 2 Diabetes Polygenic Score in Addition to Clinical Factors for Prediction of Diabetes Incidence in an Indigenous American Population (2020) (0)
- Abstract 49: A Genome-wide Meta-analysis of the Combined Influence of Physical Activity and Genetic Variants on Body Fat Distribution in 94,779 Individuals of European Descent (2014) (0)
- Trans-ethnic genome-wide association study provides insight into effector genes and molecular mechanisms for kidney function and highlights a causal effect on kidney-specific disease aetiologies (2018) (0)
- Habitual coffee consumption and cognitive function: a Mendelian randomization meta-analysis in up to 415,530 participants (2018) (0)
- Causal relationships between gut microbiome, short-chain fatty acids and 1 metabolic diseases 2 (2019) (0)
- Sequencing of 12,940 exomes identifies additional coding variants in G6PC2 which influence fasting glucose levels through effects on protein stability or activity (2015) (0)
- Genome-wide physical activity interactions in adiposity A meta-analysis of 200,452 adults Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2017) (0)
- Identification of novel type 2 diabetes susceptibility loci by large-scale replication using the "Metabochip" (2011) (0)
- Whole blood co-expression modules associate with metabolic traits and type 2 diabetes: an IMI-DIRECT study (2020) (0)
- Inferring causal pathways between metabolic processes and liver fat accumulation: an IMI DIRECT study (2021) (0)
- Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression (2022) (0)
- Edinburgh Research Explorer Variation in the SERPINA6SERPINA1 locusalters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expressionin peripheral tissues, and risk of cardiovascular disease (2021) (0)
- Lipids in Health and Disease (2015) (0)
- Publisher Correction: Identification of 371 genetic variants for age at first sex and birth linked to externalising behavior (2021) (0)
- Improvements in Genotype Imputation by using a Population Specific Reference Panel in Africa (2016) (0)
- Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
- Common variants in the GLP-1 receptor are associated with glycaemic response to GLP-1 receptor agonists in observational and large RCT data: an IMI-DIRECT study (2018) (0)
- P6231Iron status and risk of cardio-metabolic diseases in European adults: a Mendelian randomization study (2019) (0)
- Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases (2019) (0)
- New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries (2019) (0)
- Associations of adiposity, kidney stone disease, and serum calcium concentrations; observational and genetic epidemiological studies (2022) (0)
- Predicting and elucidating the etiology of fatty liver disease using a machine learning-based approach: an IMI DIRECT study (2020) (0)
- Inherited Factors in Diabetes Mellitus and Related Metabolic Disorders in the Developing World (2012) (0)
- Genetic variation at RAB3GAP2 and its role in exercise-related adaptation and recovery (2021) (0)
- Anti-Müllerian Hormone and Cardiometabolic Disease in Women: A Two-Sample Mendelian Randomization Study (2022) (0)
- Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries (2019) (0)
- Effect of waist-to-hip ratio on the association between type 2 diabetes and depression: an exploratory study using the polygenic scores approach in the UK Biobank (2017) (0)
- Large-Scale Genome-Wide Association Meta-Analysis using Imputation from 1000 Genomes Project Reference Panel Identifies 29 Novel Lipid Loci and New Variants in Previously known Loci (2013) (0)
- Bone mineral density and risk of type 2 diabetes and coronary heart disease: A Mendelian randomization study [version 1; peer review: 2 approved, 1 approved with reservations] (2020) (0)
- Trans-ethnic meta-analysis reveals novel loci and effector genes for kidney function in diverse populations (2015) (0)
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (0)
- Identification of protein-coding variants associated with risk of type 2 diabetes (2014) (0)
- Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (2021) (0)
- GLP-1 RECEPTOR VARIANTS MARKEDLY DIFFERENTIATE GLYCAEMIC RESPONSE TO GLP-1 RECEPTOR AGONISTS : A DIRECT STUDY (2017) (0)
- Large-scale Genome-wide Association Meta-analysis Using Imputation from 2188-haplotype 1000 Genomes Reference Panel Identifies Novel Susceptibility Loci for Anthropometric and Glycemic Traits (2013) (0)
- 309-OR: Deep Learning Model of Pancreatic Islet Epigenome Refines Association Signals at Type 2 Diabetes Susceptibility Loci (2019) (0)
- Identification of additional type 2 diabetes susceptibility loci through large-scale replication using "Metabochip": early result (2010) (0)
- Conservative management of asymptomatic pelvi – ureteric junction obstruction ( A-PUJO ) – is it safe ? – a cohort study (2022) (0)
- Genome-wide association study of MRI liver iron content in 9,800 individuals yields new insights into its link with hepatic and extrahepatic diseases (2019) (0)
- Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (0)
- 189-OR: Plasma Proteome Profiling of Prediabetes and Diabetes Progression: An IMI Direct Study (2019) (0)
- The role of physical activity in metabolic homeostasis before and after the onset of type 2 diabetes (2020) (0)
- Central adiposity and diabetes are causally associated with kidney stone disease (2021) (0)
- Correction to: The role of physical activity in metabolic homeostasis before and after the onset of type 2 diabetes: an IMI DIRECT study (2020) (0)
- Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2018) (0)
- A common variant downstream of PCSK2 is associated with reduced tolbutamide stimulated insulin release: a DIRECT study (2014) (0)
- A genome-wide association study of IVGTT-based measures of first phase insulin secretion refines the underlying physiology of type 2 diabetes variants Mechanisms of type 2 diabetes genetic risk factors (2017) (0)
- Abstract P360: Meta-Analysis of up to 14,262 Individuals Identifies Loci Associated with Measures of Subcutaneous Fat Volume and Attenuation (2015) (0)
- Genetic studies of birth weight give biological insights into links with adult disease (2016) (0)
- Large-scale genome-wide association meta-analysis of the 1000 genomes project imputed data identifies 19 novel lipid loci and new variants in previously known loci (2014) (0)
- Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors (2019) (0)
- Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells (2018) (0)
- University of Dundee Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease (0)
- Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications (2023) (0)
- University of Dundee Processes Underlying Glycemic Deterioration in Type 2 Diabetes IMI DIRECT Consortium; Bizzotto, Roberto; Jennison, Christopher; Jones, Angus G.; Kurbasic, (2020) (0)
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