Parental origin of sequence variants associated with complex diseases.
paper
Cited
Public
- Authors
- Kong, Augustine; Steinthorsdottir, Valgerdur; Masson, Gisli; Thorleifsson, Gudmar; Sulem, Patrick; Besenbacher, Soren; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Kristinsson, Kari Th; Jonasdottir, Adalbjorg; Frigge, Michael L; Gylfason, Arnaldur; Olason, Pall I; Gudjonsson, Sigurjon A; Sverrisson, Sverrir; Stacey, Simon N; Sigurgeirsson, Bardur; Benediktsdottir, Kristrun R; Sigurdsson, Helgi; Jonsson, Thorvaldur; Benediktsson, Rafn; Olafsson, Jon H; Johannsson, Oskar Th; Hreidarsson, Astradur B; Sigurdsson, Gunnar; DIAGRAM Consortium; Ferguson-Smith, Anne C; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Stefansson, Kari
- Year
- 2009
- Journal
- Nature
- PMID
- 20016592
- DOI
- 10.1038/nature08625
- PMCID
- PMC3746295
Effects of susceptibility variants may depend on from which parent they are inherited. Although many associations between sequence variants and human traits have been discovered through genome-wide associations, the impact of parental origin has largely been ignored. Here we show that for 38,167 Icelanders genotyped using single nucleotide polymorphism (SNP) chips, the parental origin of most alleles can be determined. For this we used a combination of genealogy and long-range phasing. We then focused on SNPs that associate with diseases and are within 500 kilobases of known imprinted genes. Seven independent SNP associations were examined. Five-one with breast cancer, one with basal-cell carcinoma and three with type 2 diabetes-have parental-origin-specific associations. These variants are located in two genomic regions, 11p15 and 7q32, each harbouring a cluster of imprinted genes. Furthermore, we observed a novel association between the SNP rs2334499 at 11p15 and type 2 diabetes. Here the allele that confers risk when paternally inherited is protective when maternally transmitted. We identified a differentially methylated CTCF-binding site at 11p15 and demonstrated correlation of rs2334499 with decreased methylation of that site.
An example of parental origin determinationIn blue and red are two phased haplotypes of a proband. Among other typed individuals, the closest paternal relative known to also carry the blue haplotype is R1, a cousin, while the corresponding maternal relative is R2. For the red haplotype, a maternal aunt (R3) carries the haplotype, while the closest known carrier on the father side is R4. Since R1 is a closer than R2 and R3 is a closer than R4, the blue and red haplotypes are likely paternally and maternally inherited respectively. The single-tile score (see Methods) supporting this assignment is 0.194.
Chromosome 11p15 locusMarkers associated with T2D (rs2334499, rs231362, rs2237892) as well as breast cancer (rs3817198), are indicated. The two regions containing clusters of imprinted genes are shaded. Location of the CTCF binding region studied (OREG0020670) and gene annotations were taken from the University of California Santa Cruz genome browser. Estimated recombination rates (from HapMap) are plotted to reflect the linkage disequilibrium structure in the region.
Chromosome 7q32 locusMarkers associated with T2D (rs4731702, rs972283) as well as basal cell carcinoma (rs157935), are indicated. Rs972283, reported in the DIAGRAM study is not on the Illumina chip. Data on the correlated marker rs4731702 (r2 = 1, HapMap Ceu) is reported here. The region containing the known imprinted genes is shaded. Gene annotations were taken from the University of California Santa Cruz genome browser. Estimated recombination rates (from HapMap) are plotted to reflect the linkage disequilibrium structure in the region.
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| Incorporating information from markers in LD with test locus for detecting imprinting and maternal effects. | Zhang F et al. | β | 2020 | β |
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| Sex-specific plasticity across generations I: Maternal and paternal effects on sons and daughters. | Hellmann JK et al. | β | 2020 | β |
| Transcription Factor KLF14 and Metabolic Syndrome. | Yang Q et al. | β | 2020 | β |
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| Blood-based analysis of type-2 diabetes mellitus susceptibility genes identifies specific transcript variants with deregulated expression and association with disease risk. | Christodoulou MI et al. | β | 2019 | β |
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| Differential methylation of the type 2 diabetes susceptibility locus KCNQ1 is associated with insulin sensitivity and is predicted by CpG site specific genetic variation. | Shah UJ et al. | β | 2019 | β |
| Dusp8 affects hippocampal size and behavior in mice and humans. | Baumann P et al. | β | 2019 | β |
| Epigenetics and Type 2 Diabetes Risk. | Dhawan S et al. | β | 2019 | β |
| Genetic and epigenetic sex-specific adaptations to endurance exercise. | Landen S et al. | β | 2019 | β |
| Genetic polymorphisms associated with pediatric-onset type 2 diabetes: A family-based transmission disequilibrium test and case-control study. | Miranda-Lora AL et al. | β | 2019 | β |
| Heart Disease and Stroke Statistics-2019 Update: A Report From the American Heart Association. | Benjamin EJ et al. | β | 2019 | β |
| Parent-of-origin effects on quantitative phenotypes in a large Hutterite pedigree. | Mozaffari SV et al. | β | 2019 | β |
| Parent of origin genetic effects on methylation in humans are common and influence complex trait variation. | Zeng Y et al. | β | 2019 | β |
| Sequence variants with large effects on cardiac electrophysiology and disease. | Norland K et al. | β | 2019 | β |
| The virtuous cycle of human genetics and mouse models in drug discovery. | Nadeau JH et al. | β | 2019 | β |
| Type 2 Diabetes-Associated Genetic Polymorphisms as Potential Disease Predictors. | Witka BZ et al. | β | 2019 | β |
| Why and How Imprinted Genes Drive Fetal Programming. | Crespi BJ | β | 2019 | β |
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| A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects. | Nembhard WN et al. | β | 2018 | β |
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| Associations between the maternal circulating lipid profile in pregnancy and fetal imprinted gene alleles: a cohort study. | Petry CJ et al. | β | 2018 | β |
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| Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. | Shaaban S et al. | β | 2018 | β |
| Genome-wide survey of parent-of-origin effects on DNA methylation identifies candidate imprinted loci in humans. | Cuellar Partida G et al. | β | 2018 | β |
| Heart Disease and Stroke Statistics-2018 Update: A Report From the American Heart Association. | Benjamin EJ et al. | β | 2018 | β |
| <i>Insulin</i> promoter in human pancreatic Ξ² cells contacts diabetes susceptibility loci and regulates genes affecting insulin metabolism. | Jian X et al. | β | 2018 | β |
| Insights into imprinting from parent-of-origin phased methylomes and transcriptomes. | Zink F et al. | β | 2018 | β |
| KrΓΌppel-like factors: Crippling and un-crippling metabolic pathways. | Pollak NM et al. | β | 2018 | β |
| LincRNA H19 protects from dietary obesity by constraining expression of monoallelic genes in brown fat. | Schmidt E et al. | β | 2018 | β |
| MAP1B mutations cause intellectual disability and extensive white matter deficit. | Walters GB et al. | β | 2018 | β |
| Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. | Styrkarsdottir U et al. | β | 2018 | β |
| Parent of origin gene expression in a founder population identifies two new candidate imprinted genes at known imprinted regions. | Mozaffari SV et al. | β | 2018 | β |
| Partitioning Phenotypic Variance Due to Parent-of-Origin Effects Using Genomic Relatedness Matrices. | Laurin C et al. | β | 2018 | β |
| Progress in defining the genetic contribution to type 2 diabetes susceptibility. | Morris AP | β | 2018 | β |
| Quantitative analysis of population-scale family trees with millions of relatives. | Kaplanis J et al. | β | 2018 | β |
| Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease. | Helgadottir A et al. | β | 2018 | β |
| Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition. | Small KS et al. | β | 2018 | β |
| Relatedness disequilibrium regression estimates heritability without environmental bias. | Young AI et al. | β | 2018 | β |
| The nature of nurture: Effects of parental genotypes. | Kong A et al. | β | 2018 | β |
| An efficient study design to test parent-of-origin effects in family trios. | Yu X et al. | β | 2017 | β |
| A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma. | Smith D et al. | β | 2017 | β |
| A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease. | Bjornsson E et al. | β | 2017 | β |
| Associations between changes in the maternal gut microbiome and differentially methylated regions of diabetes-associated genes in fetuses: A pilot study from a birth cohort study. | Tachibana K et al. | β | 2017 | β |
| BECon: a tool for interpreting DNA methylation findings from blood in the context of brain. | Edgar RD et al. | β | 2017 | β |
| Case-control association mapping by proxy using family history of disease. | Liu JZ et al. | β | 2017 | β |
| Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly. | Zink F et al. | β | 2017 | β |
| Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. | Haraldsdottir S et al. | β | 2017 | β |
| CTCF, Cohesin, and Chromatin in Human Cancer. | Song SH et al. | β | 2017 | β |
| Gene selection tool (GST): A R-based tool for genetic disorders based on the sliding-window proportion test using whole-exome sequencing data. | Lee S et al. | β | 2017 | β |
| Germline deletion of KrΓΌppel-like factor 14 does not increase risk of diet induced metabolic syndrome in male C57BL/6 mice. | Argmann CA et al. | β | 2017 | β |
| HDL Cholesterol Metabolism and the Risk of CHD: New Insights from Human Genetics. | Vitali C et al. | β | 2017 | β |
| How Can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes? | Beaumont RN et al. | β | 2017 | β |
| Human imprinting disorders: Principles, practice, problems and progress. | Mackay DJG et al. | β | 2017 | β |
| Parental influence on human germline de novo mutations in 1,548 trios from Iceland. | JΓ³nsson H et al. | β | 2017 | β |
| Parent-of-origin effects on schizophrenia-relevant behaviours of type III neuregulin 1 mutant mice. | Shang K et al. | β | 2017 | β |
| Recent Advances in Experimental Whole Genome Haplotyping Methods. | Huang M et al. | β | 2017 | β |
| Role of DNA Methylation in Type 2 Diabetes Etiology: Using Genotype as a Causal Anchor. | Elliott HR et al. | β | 2017 | β |
| Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis. | Sigurdsson S et al. | β | 2017 | β |
| The role of KrΓΌppel-like factor 14 in the pathogenesis of atherosclerosis. | Xie W et al. | β | 2017 | β |
| Transmission of Type 2 diabetes to sons and daughters: the D.E.S.I.R. cohort. | Balkau B et al. | β | 2017 | β |
| Type 2 diabetes, glucose, insulin, BMI, and ischemic stroke subtypes: Mendelian randomization study. | Larsson SC et al. | β | 2017 | β |
| Whole genome characterization of sequence diversity of 15,220 Icelanders. | JΓ³nsson H et al. | β | 2017 | β |
| Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. | Styrkarsdottir U et al. | β | 2017 | β |
| A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. | Rivas MA et al. | β | 2016 | β |
| Assessment of established HDL-C loci for association with HDL-C levels and type 2 diabetes in Pima Indians. | Nair AK et al. | β | 2016 | β |
| Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis. | Steinthorsdottir V et al. | β | 2016 | β |
| Empirical determination of breed-of-origin of alleles in three-breed cross pigs. | Sevillano CA et al. | β | 2016 | β |
| Epigenetic and genetic components of height regulation. | Benonisdottir S et al. | β | 2016 | β |
| Epigenetic Characterization of CDKN1C in Placenta Samples from Non-syndromic Intrauterine Growth Restriction. | LΓ³pez-Abad M et al. | β | 2016 | β |
| Evaluation of type 2 diabetes genetic risk variants in Chinese adults: findings from 93,000 individuals from the China Kadoorie Biobank. | Gan W et al. | β | 2016 | β |
| Excess maternal transmission of variants in the THADA gene to offspring with type 2 diabetes. | Prasad RB et al. | β | 2016 | β |
| Fast and accurate long-range phasing in a UK Biobank cohort. | Loh PR et al. | β | 2016 | β |
| Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes. | Pettigrew KA et al. | β | 2016 | β |
| Genetic Association-Guided Analysis of Gene Networks for the Study of Complex Traits. | Greene CS et al. | β | 2016 | β |
| Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer. | Stacey SN et al. | β | 2016 | β |
| Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model. | van de Bunt M et al. | β | 2016 | β |
| Integrating Epigenomics into the Understanding of Biomedical Insight. | Han Y et al. | β | 2016 | β |
| Is polycystic ovary syndrome a sexual conflict? A review. | Casarini L et al. | β | 2016 | β |
| Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. | Duyzend MH et al. | β | 2016 | β |
| Parent-of-origin effects of A1CF and AGO2 on testicular germ-cell tumors, testicular abnormalities, and fertilization bias. | Carouge D et al. | β | 2016 | β |
| Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures. | Styrkarsdottir U et al. | β | 2016 | β |
| The Genetic Architecture of Diabetes in Pregnancy: Implications for Clinical Practice. | Kleinberger JW et al. | β | 2016 | β |
| The Tohoku Medical Megabank Project: Design and Mission. | Kuriyama S et al. | β | 2016 | β |
| Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland. | Styrkarsdottir U et al. | β | 2016 | β |
| Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease. | Helgadottir A et al. | β | 2016 | β |
| Whole-genome re-sequencing for the identification of high contribution susceptibility gene variants in patients with type 2 diabetes. | Sun X et al. | β | 2016 | β |
| A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease. | Gretarsdottir S et al. | β | 2015 | β |
| Association of rs7754840 G/C polymorphisms in CDKAL1 with type 2 diabetes: a meta-analysis of 70141 subjects. | Tuerxunyiming M et al. | β | 2015 | β |
| Common and rare variants associated with kidney stones and biochemical traits. | Oddsson A et al. | β | 2015 | β |
| Complex Genetics of Type 2 Diabetes and Effect Size: What have We Learned from Isolated Populations? | Nair AK et al. | β | 2015 | β |
| Does epigenetic dysregulation of pancreatic islets contribute to impaired insulin secretion and type 2 diabetes? | Dayeh T et al. | β | 2015 | β |
| Environmental Influences on Genomic Imprinting. | Kappil M et al. | β | 2015 | β |
| Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis. | Nead KT et al. | β | 2015 | β |
| Exercise-associated DNA methylation change in skeletal muscle and the importance of imprinted genes: a bioinformatics meta-analysis. | Brown WM | β | 2015 | β |
| Genetic determinants for gestational diabetes mellitus and related metabolic traits in Mexican women. | Huerta-Chagoya A et al. | β | 2015 | β |
| Genetics of Type 2 Diabetes: It Matters From Which Parent We Inherit the Risk. | Lyssenko V et al. | β | 2015 | β |
| Genetics of type 2 diabetes-pitfalls and possibilities. | Prasad RB et al. | β | 2015 | β |
| Genomic conflicts and sexual antagonism in human health: insights from oxytocin and testosterone. | Mokkonen M et al. | β | 2015 | β |
| Genomic imprinting: A missing piece of the Multiple Sclerosis puzzle? | Ruhrmann S et al. | β | 2015 | β |
| Genomic imprinting effects on complex traits in domesticated animal species. | O'Doherty AM et al. | β | 2015 | β |
| Haplotype phasing and inheritance of copy number variants in nuclear families. | Palta P et al. | β | 2015 | β |
| Height-reducing variants and selection for short stature in Sardinia. | Zoledziewska M et al. | β | 2015 | β |
| Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease. | Huttenlocher J et al. | β | 2015 | β |
| Human pancreas development. | Jennings RE et al. | β | 2015 | β |
| Imprinted genes in myeloid lineage commitment in normal and malignant hematopoiesis. | Benetatos L et al. | β | 2015 | β |
| Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation. | Howey R et al. | β | 2015 | β |
| Indications for potential parent-of-origin effects within the FTO gene. | Liu X et al. | β | 2015 | β |
| Insights into the Genetic Susceptibility to Type 2 Diabetes from Genome-Wide Association Studies of Obesity-Related Traits. | Karaderi T et al. | β | 2015 | β |
| Joint effect of CENTD2 and KCNQ1 polymorphisms on the risk of type 2 diabetes mellitus among Chinese Han population. | Qian Y et al. | β | 2015 | β |
| Large-scale whole-genome sequencing of the Icelandic population. | Gudbjartsson DF et al. | β | 2015 | β |
| Loss-of-function variants in ATM confer risk of gastric cancer. | Helgason H et al. | β | 2015 | β |
| Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance. | Esparza-Gordillo J et al. | β | 2015 | β |
| Metabolic factors and genetic risk mediate familial type 2 diabetes risk in the Framingham Heart Study. | Raghavan S et al. | β | 2015 | β |
| New basal cell carcinoma susceptibility loci. | Stacey SN et al. | β | 2015 | β |
| Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults. | Hochner H et al. | β | 2015 | β |
| Paternal allelic mutation at the Kcnq1 locus reduces pancreatic Ξ²-cell mass by epigenetic modification of Cdkn1c. | Asahara S et al. | β | 2015 | β |
| Perhexiline activates KLF14 and reduces atherosclerosis by modulating ApoA-I production. | Guo Y et al. | β | 2015 | β |
| Potential relationship between single nucleotide polymorphisms used in forensic genetics and diseases or other traits in European population. | Pombar-Gomez M et al. | β | 2015 | β |
| Rare and common genetic events in type 2 diabetes: what should biologists know? | Bonnefond A et al. | β | 2015 | β |
| Recent advances in understanding the genetic architecture of type 2 diabetes. | Mohlke KL et al. | β | 2015 | β |
| Review of statistical methodologies for the detection of parent-of-origin effects in family trio genome-wide association data with binary disease traits. | Connolly S et al. | β | 2015 | β |
| Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. | Hoffmann A et al. | β | 2015 | β |
| Searching for the human genetic factors standing in the way of universally effective vaccines. | Mentzer AJ et al. | β | 2015 | β |
| Sequence variants from whole genome sequencing a large group of Icelanders. | Gudbjartsson DF et al. | β | 2015 | β |
| THE GENETICS OF EPIGENETIC INHERITANCE: MODES, MOLECULES, AND MECHANISMS. | Schaefer S et al. | β | 2015 | β |
| The landscape of genomic imprinting across diverse adult human tissues. | Baran Y et al. | β | 2015 | β |
| The rs2237892 Polymorphism in KCNQ1 Influences Gestational Diabetes Mellitus and Glucose Levels: A Case-Control Study and Meta-Analysis. | Ao D et al. | β | 2015 | β |
| Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. | Swaminathan B et al. | β | 2015 | β |
| An integrated epigenomic analysis for type 2 diabetes susceptibility loci in monozygotic twins. | Yuan W et al. | β | 2014 | β |
| A probabilistic model to predict clinical phenotypic traits from genome sequencing. | Chen YC et al. | β | 2014 | β |
| Asymmetry in family history implicates nonstandard genetic mechanisms: application to the genetics of breast cancer. | Weinberg CR et al. | β | 2014 | β |
| Common and low-frequency variants associated with genome-wide recombination rate. | Kong A et al. | β | 2014 | β |
| Epigenetic regulation of the DLK1-MEG3 microRNA cluster in human type 2 diabetic islets. | Kameswaran V et al. | β | 2014 | β |
| Epigenetics and development of food allergy (FA) in early childhood. | Hong X et al. | β | 2014 | β |
| Etiology of familial breast cancer with undetected BRCA1 and BRCA2 mutations: clinical implications. | Yiannakopoulou E | β | 2014 | β |
| Evidence for linkage and association of GABRB3 and GABRA5 to panic disorder. | Hodges LM et al. | β | 2014 | β |
| Fine mapping of type 2 diabetes susceptibility loci. | Morris AP | β | 2014 | β |
| Gene-lifestyle interaction and type 2 diabetes: the EPIC interact case-cohort study. | Langenberg C et al. | β | 2014 | β |
| Genetic architecture of type 2 diabetes. | Hara K et al. | β | 2014 | β |
| Genetics of diabetes--are we missing the genes or the disease? | Groop L et al. | β | 2014 | β |
| Genetic susceptibility to type 2 diabetes and obesity: from genome-wide association studies to rare variants and beyond. | Grarup N et al. | β | 2014 | β |
| Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer. | Rafnar T et al. | β | 2014 | β |
| Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. | Court F et al. | β | 2014 | β |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. | DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium et al. | β | 2014 | β |
| Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. | Stacey SN et al. | β | 2014 | β |
| Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes. | Steinthorsdottir V et al. | β | 2014 | β |
| Individualized medicine from prewomb to tomb. | Topol EJ | β | 2014 | β |
| InterPregGen: genetic studies of pre-eclampsia in three continents. | Morgan L et al. | β | 2014 | β |
| Nonparametric method for detecting imprinting effect using all members of general pedigrees with missing data. | Zhang F et al. | β | 2014 | β |
| Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index. | Hoggart CJ et al. | β | 2014 | β |
| Opportunity for selection in human health. | Govindaraju DR | β | 2014 | β |
| Parental obesity and risk of autism spectrum disorder. | SurΓ©n P et al. | β | 2014 | β |
| Parent-of-origin effects implicate epigenetic regulation of experimental autoimmune encephalomyelitis and identify imprinted Dlk1 as a novel risk gene. | Stridh P et al. | β | 2014 | β |
| Parent-of-origin effects on glucose homeostasis in polycystic ovary syndrome. | Kobaly K et al. | β | 2014 | β |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. | Perry JR et al. | β | 2014 | β |
| Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. | Wang Y et al. | β | 2014 | β |
| Recent advances in the molecular genetics of type 2 diabetes mellitus. | Brunetti A et al. | β | 2014 | β |
| Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31. | Styrkarsdottir U et al. | β | 2014 | β |
| T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility. | Ghassibe-Sabbagh M et al. | β | 2014 | β |
| The architecture of parent-of-origin effects in mice. | Mott R et al. | β | 2014 | β |
| The architecture of risk for type 2 diabetes: understanding Asia in the context of global findings. | Abdullah N et al. | β | 2014 | β |
| The Missing lnc(RNA) between the pancreatic Ξ²-cell and diabetes. | Kameswaran V et al. | β | 2014 | β |
| The pancreatic Ξ² cell: recent insights from human genetics. | Thomsen SK et al. | β | 2014 | β |
| A multi-locus likelihood method for assessing parent-of-origin effects using case-control mother-child pairs. | Lin D et al. | β | 2013 | β |
| A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. | Ku CS et al. | β | 2013 | β |
| A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. | Praetorius C et al. | β | 2013 | β |
| A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. | Helgason H et al. | β | 2013 | β |
| Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer. | Bielinska B et al. | β | 2013 | β |
| Association of the KLF14 rs4731702 SNP and serum lipid levels in the Guangxi Mulao and Han populations. | Huang P et al. | β | 2013 | β |
| A unified framework integrating parent-of-origin effects for association study. | Xiao F et al. | β | 2013 | β |
| Bridging epigenomics and complex disease: the basics. | Teperino R et al. | β | 2013 | β |
| Bridging the gap between genetic associations and molecular mechanisms for type 2 diabetes. | Ng HJ et al. | β | 2013 | β |
| Characterizing vaccine responses using host genomic and transcriptomic analysis. | O'Connor D et al. | β | 2013 | β |
| Child development and molecular genetics: 14 years later. | Plomin R | β | 2013 | β |
| Chromatin marks identify critical cell types for fine mapping complex trait variants. | Trynka G et al. | β | 2013 | β |
| Developmental and environmental epigenetic programming of the endocrine pancreas: consequences for type 2 diabetes. | Sandovici I et al. | β | 2013 | β |
| Divergence of mammalian higher order chromatin structure is associated with developmental loci. | Chambers EV et al. | β | 2013 | β |
| Estimating single nucleotide polymorphism associations using pedigree data: applications to breast cancer. | Barnes DR et al. | β | 2013 | β |
| Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. | Nickels S et al. | β | 2013 | β |
| From promises to practical strategies in epigenetic epidemiology. | Mill J et al. | β | 2013 | β |
| Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. | Grarup N et al. | β | 2013 | β |
| Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association. | Ganesh SK et al. | β | 2013 | β |
| Genetic screening for the risk of type 2 diabetes: worthless or valuable? | Lyssenko V et al. | β | 2013 | β |
| Genetics of impulsive behaviour. | Bevilacqua L et al. | β | 2013 | β |
| Genetics of type 2 diabetes and potential clinical implications. | Kwak SH et al. | β | 2013 | β |
| Genomic imprinting and parent-of-origin effects on complex traits. | Lawson HA et al. | β | 2013 | β |
| Genotype phasing in populations of closely related individuals. | Hickey JM | β | 2013 | β |
| GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. | Simmonds MJ | β | 2013 | β |
| Hereditary breast cancer: ever more pieces to the polygenic puzzle. | Bogdanova N et al. | β | 2013 | β |
| Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets. | Dayeh TA et al. | β | 2013 | β |
| Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop. | Iglesias-Platas I et al. | β | 2013 | β |
| Inference of identity by descent in population isolates and optimal sequencing studies. | Glodzik D et al. | β | 2013 | β |
| Insights into the genetic basis of type 2 diabetes. | Kato N | β | 2013 | β |
| Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets. | Travers ME et al. | β | 2013 | β |
| Investigation of six testicular germ cell tumor susceptibility genes suggests a parent-of-origin effect in SPRY4. | Karlsson R et al. | β | 2013 | β |
| Lack of interaction of beta-cell-function-associated variants with hypertension on change in fasting glucose and diabetes risk: the Framingham Offspring Study. | de Miguel-Yanes JM et al. | β | 2013 | β |
| Migration and DNA methylation: a comparison of methylation patterns in type 2 diabetes susceptibility genes between indians and europeans. | Elliott HR et al. | β | 2013 | β |
| New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. | Horikoshi M et al. | β | 2013 | β |
| Parent of origin influences the cardiac expression of vascular endothelial growth factor (Vegfa). | Chiu CL et al. | β | 2013 | β |
| Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity. | Walters RG et al. | β | 2013 | β |
| Recent progress in the use of genetics to understand links between type 2 diabetes and related metabolic traits. | Yaghootkar H et al. | β | 2013 | β |
| Sexual and parental antagonism shape genomic architecture. | Patten MM et al. | β | 2013 | β |
| Strong parent-of-origin effects in the association of KCNQ1 variants with type 2 diabetes in American Indians. | Hanson RL et al. | β | 2013 | β |
| The role of imprinted genes in humans. | Ishida M et al. | β | 2013 | β |
| Type 2 diabetes in East Asians: similarities and differences with populations in Europe and the United States. | Ma RC et al. | β | 2013 | β |
| Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencing. | Selvaraj S et al. | β | 2013 | β |
| Adaptive evolution and the birth of CTCF binding sites in the Drosophila genome. | Ni X et al. | β | 2012 | β |
| Advanced research on risk factors of type 2 diabetes. | Bi Y et al. | β | 2012 | β |
| A genome-wide screen in human embryonic stem cells reveals novel sites of allele-specific histone modification associated with known disease loci. | Prendergast JG et al. | β | 2012 | β |
| A hybrid approach for the automated finishing of bacterial genomes. | Bashir A et al. | β | 2012 | β |
| Channeling dysglycemia: ion-channel variations perturbing glucose homeostasis. | Denton JS et al. | β | 2012 | β |
| Chromatin structure, epigenetic mechanisms and long-range interactions in the human insulin locus. | Xu Z et al. | β | 2012 | β |
| Commentary: The seven plagues of epigenetic epidemiology. | Heijmans BT et al. | β | 2012 | β |
| Commentary: thoughts on assessing evidence for gene by environment interaction. | Weinberg CR | β | 2012 | β |
| Common and specific liability to addiction: approaches to association studies of opioid addiction. | Nielsen DA et al. | β | 2012 | β |
| Condensin dysfunction in human cells induces nonrandom chromosomal breaks in anaphase, with distinct patterns for both unique and repeated genomic regions. | Samoshkin A et al. | β | 2012 | β |
| Detection of parent-of-origin specific expression quantitative trait loci by cis-association analysis of gene expression in trios. | Garg P et al. | β | 2012 | β |
| Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility. | Reinius LE et al. | β | 2012 | β |
| Epigenetic and genetic variation at the IGF2/H19 imprinting control region on 11p15.5 is associated with cerebellum weight. | Pidsley R et al. | β | 2012 | β |
| Genes contributing to genetic variation of muscling in sheep. | Tellam RL et al. | β | 2012 | β |
| Genetics of coronary artery disease: genome-wide association studies and beyond. | Prins BP et al. | β | 2012 | β |
| Genetics of type 2 diabetes in East Asian populations. | Cho YS et al. | β | 2012 | β |
| Genome-wide association study validation identifies novel loci for atherosclerotic cardiovascular disease. | Chen X et al. | β | 2012 | β |
| Genome-wide mapping of methylated adenine residues in pathogenic Escherichia coli using single-molecule real-time sequencing. | Fang G et al. | β | 2012 | β |
| Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood. | Toperoff G et al. | β | 2012 | β |
| Genotype prediction of adult type 2 diabetes from adolescence in a multiracial population. | Vassy JL et al. | β | 2012 | β |
| Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. | Morris AP et al. | β | 2012 | β |
| Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci. | Fransen K et al. | β | 2012 | β |
| Massively parallel haplotyping on microscopic beads for the high-throughput phase analysis of single molecules. | Boulanger J et al. | β | 2012 | β |
| Maternal nutritional status, C(1) metabolism and offspring DNA methylation: a review of current evidence in human subjects. | Dominguez-Salas P et al. | β | 2012 | β |
| Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese population. | Wu D et al. | β | 2012 | β |
| Neonatal cytokine profile in the airway mucosal lining fluid is skewed by maternal atopy. | FΓΈlsgaard NV et al. | β | 2012 | β |
| Next steps in cardiovascular disease genomic research--sequencing, epigenetics, and transcriptomics. | Schnabel RB et al. | β | 2012 | β |
| Parent of origin effects. | Guilmatre A et al. | β | 2012 | β |
| Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas. | Johnson KJ et al. | β | 2012 | β |
| Rare and common variants: twenty arguments. | Gibson G | β | 2012 | β |
| Resolving the variable genome and epigenome in human disease. | Knight JC | β | 2012 | β |
| Sex-specific differences in effect size estimates at established complex trait loci. | Orozco G et al. | β | 2012 | β |
| The quiescent cellular state is Arf/p53-dependent and associated with H2AX downregulation and genome stability. | Yoshioka KI et al. | β | 2012 | β |
| Transmission distortion in Crohn's disease risk gene ATG16L1 leads to sex difference in disease association. | Liu LY et al. | β | 2012 | β |
| Understanding CpG methylation in the context of osteoarthritis. | Young DA et al. | β | 2012 | β |
| Understanding the complexity of IgE-related phenotypes from childhood to young adulthood: a Mechanisms of the Development of Allergy (MeDALL) seminar. | AntΓ³ JM et al. | β | 2012 | β |
| A combined long-range phasing and long haplotype imputation method to impute phase for SNP genotypes. | Hickey JM et al. | β | 2011 | β |
| Advanced paternal and grandpaternal age and schizophrenia: a three-generation perspective. | Frans EM et al. | β | 2011 | β |
| A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese. | Cui B et al. | β | 2011 | β |
| A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. | Stacey SN et al. | β | 2011 | β |
| A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. | Choufani S et al. | β | 2011 | β |
| A powerful test of parent-of-origin effects for quantitative traits using haplotypes. | Feng R et al. | β | 2011 | β |
| A role for coding functional variants in HNF4A in type 2 diabetes susceptibility. | Jafar-Mohammadi B et al. | β | 2011 | β |
| Association study of type 2 diabetes genetic susceptibility variants and risk of pancreatic cancer: an analysis of PanScan-I data. | Pierce BL et al. | β | 2011 | β |
| Breast cancer patients with lobular cancer more commonly have a father than a mother diagnosed with cancer. | Ellberg C et al. | β | 2011 | β |
| Chromatin and heritability: how epigenetic studies can complement genetic approaches. | Birney E | β | 2011 | β |
| Chromatin architecture and the regulation of nuclear receptor inducible transcription. | Biddie SC | β | 2011 | β |
| Comparison of six statistics of genetic association regarding their ability to discriminate between causal variants and genetically linked markers. | Lorenzo Bermejo J et al. | β | 2011 | β |
| Completely phased genome sequencing through chromosome sorting. | Yang H et al. | β | 2011 | β |
| Dissecting prenatal, postnatal, and inherited effects: ART and design. | Zhou JJ et al. | β | 2011 | β |
| DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines. | Bell JT et al. | β | 2011 | β |
| DNA sequence polymorphisms within the bovine guanine nucleotide-binding protein Gs subunit alpha (GsΞ±)-encoding (GNAS) genomic imprinting domain are associated with performance traits. | Sikora KM et al. | β | 2011 | β |
| Dorothy Hodgkin Lecture 2010. From hype to hope? A journey through the genetics of Type 2 diabetes. | McCarthy MI | β | 2011 | β |
| Epigenetic modifications: basic mechanisms and role in cardiovascular disease. | Handy DE et al. | β | 2011 | β |
| Epigenetics and diabetes risk: not just for imprinting anymore? | Pollin TI | β | 2011 | β |
| European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. | Rafnar T et al. | β | 2011 | β |
| Family-based designs for genome-wide association studies. | Ott J et al. | β | 2011 | β |
| Genetic effects at pleiotropic loci are context-dependent with consequences for the maintenance of genetic variation in populations. | Lawson HA et al. | β | 2011 | β |
| Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms. | de Miguel-Yanes JM et al. | β | 2011 | β |
| Genetics and epigenetics in the fibrogenic evolution of chronic liver diseases. | Zimmer V et al. | β | 2011 | β |
| Genetics of type 2 diabetes. | Ahlqvist E et al. | β | 2011 | β |
| Genetics of type 2 diabetes: pathophysiologic and clinical relevance. | Herder C et al. | β | 2011 | β |
| Genome-wide assessment of imprinted expression in human cells. | Morcos L et al. | β | 2011 | β |
| Genome-wide association scan allowing for epistasis in type 2 diabetes. | Bell JT et al. | β | 2011 | β |
| Genome-wide association studies and type 2 diabetes. | Wheeler E et al. | β | 2011 | β |
| Genome-wide association studies for detecting cancer susceptibility. | Hosking FJ et al. | β | 2011 | β |
| Genome-wide association studies (GWAS): impact on elucidating the aetiology of diabetes. | Hakonarson H et al. | β | 2011 | β |
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. | Chambers JC et al. | β | 2011 | β |
| Genome-wide association study of relative telomere length. | Prescott J et al. | β | 2011 | β |
| Genomic imprinting: the emergence of an epigenetic paradigm. | Ferguson-Smith AC | β | 2011 | β |
| Haplotype phasing: existing methods and new developments. | Browning SR et al. | β | 2011 | β |
| Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study. | Almgren P et al. | β | 2011 | β |
| Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes. | Small KS et al. | β | 2011 | β |
| Insulin resistance and metabolic hepatocarcinogenesis with parent-of-origin effects in AΓB mice. | Hines IN et al. | β | 2011 | β |
| KCNQ1, a susceptibility gene for type 2 diabetes. | Kasuga M | β | 2011 | β |
| Maternal genetic mutations as gestational and early life influences in producing psychiatric disease-like phenotypes in mice. | Gleason G et al. | β | 2011 | β |
| Methods for detecting interactions between imprinted genes and environmental exposures using birth cohort designs with mother-offspring pairs. | Wang S et al. | β | 2011 | β |
| Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes. | Nakabayashi K et al. | β | 2011 | β |
| Molecular basis of obesity: current status and future prospects. | Choquet H et al. | β | 2011 | β |
| Molecular mechanisms of genomic imprinting and clinical implications for cancer. | Uribe-Lewis S et al. | β | 2011 | β |
| Multisite haplotype on cattle chromosome 3 is associated with quantitative trait locus effects on lactation traits. | Cohen-Zinder M et al. | β | 2011 | β |
| Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. | Dewey FE et al. | β | 2011 | β |
| Quantitative epigenetics through epigenomic perturbation of isogenic lines. | Johannes F et al. | β | 2011 | β |
| Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. | Momozawa Y et al. | β | 2011 | β |
| Restless legs syndrome mothers and attention-deficit/hyperactivity disorder children: what happened between them? | Xiong L et al. | β | 2011 | β |
| Serotonin 1A receptor gene, schizophrenia and bipolar disorder: an association study and meta-analysis. | Kishi T et al. | β | 2011 | β |
| Studying the epigenome using next generation sequencing. | Ku CS et al. | β | 2011 | β |
| The emergence of human-evolutionary medical genomics. | Crespi BJ | β | 2011 | β |
| The hunt for the epiallele. | Finer S et al. | β | 2011 | β |
| The impact of cis-acting polymorphisms on the human phenotype. | Jones BL et al. | β | 2011 | β |
| The importance of phase information for human genomics. | Tewhey R et al. | β | 2011 | β |
| The role of imprinted genes in mediating susceptibility to neuropsychiatric disorders. | Kopsida E et al. | β | 2011 | β |
| The search for the genetic contribution to autoimmune thyroid disease: the never ending story? | Simmonds MJ et al. | β | 2011 | β |
| What is Next for the Genetics of Multiple Sclerosis? | Ramagopalan SV et al. | β | 2011 | β |
| Allele-specific methylation in the human genome: implications for genetic studies of complex disease. | Meaburn EL et al. | β | 2010 | β |
| Ancestral paternal genotype controls body weight and food intake for multiple generations. | Yazbek SN et al. | β | 2010 | β |
| A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. | Kiemeney LA et al. | β | 2010 | β |
| Beckwith-Wiedemann syndrome. | Choufani S et al. | β | 2010 | β |
| Current findings, challenges and novel approaches in human genetic susceptibility to tuberculosis. | MΓΆller M et al. | β | 2010 | β |
| Epigenetic epidemiology of common complex disease: prospects for prediction, prevention, and treatment. | Relton CL et al. | β | 2010 | β |
| Epigenetic regulation of the neural transcriptome: the meaning of the marks. | Meaney MJ et al. | β | 2010 | β |
| Fine-scale recombination rate differences between sexes, populations and individuals. | Kong A et al. | β | 2010 | β |
| From genetic association to molecular mechanism. | van de Bunt M et al. | β | 2010 | β |
| Genes essential for cell viability that are linked to tumor suppressor genes play a role in cancer susceptibility. | Wang Y et al. | β | 2010 | β |
| Genetic susceptibility to breast cancer. | Mavaddat N et al. | β | 2010 | β |
| Genome-wide approaches to the etiology of eczema. | Esparza-Gordillo J et al. | β | 2010 | β |
| Genomic imprinting in diabetes. | Mitchell BD et al. | β | 2010 | β |
| Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from the International Association of Diabetes and Pregnancy Study Groups. | Freathy RM et al. | β | 2010 | β |
| Induction of epigenetic alterations by dietary and other environmental factors. | Mathers JC et al. | β | 2010 | β |
| Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. | Sharp AJ et al. | β | 2010 | β |
| Missing heritability and strategies for finding the underlying causes of complex disease. | Eichler EE et al. | β | 2010 | β |
| Multiple sclerosis etiology: beyond genes and environment. | Mechelli R et al. | β | 2010 | β |
| Pharmacogenetic study of serotonin 6 receptor gene with antidepressant response in major depressive disorder in the Japanese population. | Kishi T et al. | β | 2010 | β |
| Prenatal environmental exposures that may influence Ξ²-cell function or insulin sensitivity in middle age. | Kahn HS et al. | β | 2010 | β |
| Rapid haplotype inference for nuclear families. | Williams AL et al. | β | 2010 | β |
| RNA as the substrate for epigenome-environment interactions: RNA guidance of epigenetic processes and the expansion of RNA editing in animals underpins development, phenotypic plasticity, learning, and cognition. | Mattick JS | β | 2010 | β |
| Serotonin 6 receptor gene and mood disorders: case-control study and meta-analysis. | Fukuo Y et al. | β | 2010 | β |
| Shedding new light on genetic dark matter. | Melhem N et al. | β | 2010 | β |
| Statistical analysis strategies for association studies involving rare variants. | Bansal V et al. | β | 2010 | β |
| Synthetic associations in the context of genome-wide association scan signals. | Orozco G et al. | β | 2010 | β |
| Tackling the epigenome: challenges and opportunities for collaboration. | Satterlee JS et al. | β | 2010 | β |
| The emerging genetics of type 2 diabetes. | Bonnefond A et al. | β | 2010 | β |
| The epigenomic interface between genome and environment in common complex diseases. | Bell CG et al. | β | 2010 | β |
| Transgenerational genetic effects. | Nelson VR et al. | β | 2010 | β |
| Transient neonatal diabetes mellitus type 1. | Mackay DJ et al. | β | 2010 | β |
| Translating genomics into improved healthcare. | Hingorani AD et al. | β | 2010 | β |
| Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. | Voight BF et al. | β | 2010 | β |
| Uncovering the roles of rare variants in common disease through whole-genome sequencing. | Cirulli ET et al. | β | 2010 | β |
| Understanding human genetic variation in the era of high-throughput sequencing. | Knight JC | β | 2010 | β |
| Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are associated with reduced glucose-stimulated beta cell function in middle-aged Danish people. | Boesgaard TW et al. | β | 2010 | β |