Personal genomes: The case of the missing heritability

Transposable elements: targets for early nutritional effects on epigenetic gene regulation

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Large recurrent microdeletions associated with schizophrenia.

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Rare chromosomal deletions and duplications increase risk of schizophrenia

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Genetic Dissection of Transcriptional Regulation in Budding Yeast

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Genome-wide association analysis identifies 20 loci that influence adult height

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Many sequence variants affecting diversity of adult human height

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The genetics of autistic disorders and its clinical relevance: a review of the literature

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Identification of ten loci associated with height highlights new biological pathways in human growth

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Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL

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Sizing up human height variation

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Meta-analysis of heterogeneous data sources for genome-scale identification of risk genes in complex phenotypes

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How powerful are summary-based methods for identifying expression-trait associations under different genetic architectures?

Veturi, Y., & Ritchie, M. D. (2017) · Pacific Symposium on Biocomputing (PSB) · doi:10.1142/9789813235533_0021 · Cited by 37

Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds

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Epigenetics in ecology and evolution

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How genetic and environmental variance in personality traits shift across the life span: Evidence from a cross-national twin study.

Kandler, C., Bratko, D., Butković, A., Hlupić, T. V., Tybur, J. M., Wesseldijk, L. W., de Vries, R. E., Jern, P., & Lewis, G. J. (2020) · Journal of Personality and Social Psychology · doi:10.1037/pspp0000366 · Cited by 47

Identifying Rare Variants Associated with Complex Traits via Sequencing

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Technology-specific error signatures in the 1000 Genomes Project data

Nothnagel, M., Herrmann, A., Wolf, A., Schreiber, S., Platzer, M., Siebert, R., Krawczak, M., & Hampe, J. (2011) · Human Genetics · doi:10.1007/s00439-011-0971-3 · Cited by 38

Non-Mendelian epigenetic heredity: gametic RNAs as epigenetic regulators and transgenerational signals

Cuzin, F., & Rassoulzadegan, M. (2010) · Essays in Biochemistry · doi:10.1042/bse0480101 · Cited by 38

Genetically complex epilepsies, copy number variants and syndrome constellations

Mefford, H. C., & Mulley, J. C. (2010) · Genome Medicine · doi:10.1186/gm192 · Cited by 39

RDoC and translational perspectives on the genetics of trauma‐related psychiatric disorders

Montalvo‐Ortiz, J. L., Gelernter, J. E., Hudziak, J. J., & Kaufman, J. (2015) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32395 · Cited by 41

Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium

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Detecting Gene–Environment Interactions for a Quantitative Trait in a Genome‐Wide Association Study

Zhang, P., Lewinger, J. P., Conti, D. V., Morrison, J. L., & Gauderman, W. J. (2016) · Genetic Epidemiology · doi:10.1002/gepi.21977 · Cited by 36

Complex effects of dyslexia risk factors account for ADHD traits: evidence from two independent samples

Mascheretti, S., Trezzi, V., Giorda, R., Boivin, M., Plourde, V., Vitaro, F., Brendgen, M., Dionne, G., & Marino, C. (2017) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12612 · Cited by 37

Evaluating rare coding variants as contributing causes to non‐syndromic cleft lip and palate

Leslie, E., & Murray, J. (2012) · Clinical Genetics · doi:10.1111/cge.12018 · Cited by 38

Study Designs for Identification of Rare Disease Variants in Complex Diseases: The Utility of Family-Based Designs

Ionita‐Laza, I., & Ottman, R. (2011) · Genetics · doi:10.1534/genetics.111.131813 · Cited by 37

Dietary Patterns, Genes, and Health: Challenges and Obstacles to be Overcome

Wood, A. C. (2014) · Current Nutrition Reports · doi:10.1007/s13668-014-0110-6 · Cited by 39

Epistasis and immunity: the role of genetic interactions in autoimmune diseases

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Genetics of ACPA-positive rheumatoid arthritis: the beginning of the end?

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A rare missense variant in RCL1 segregates with depression in extended families.

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Evaluation of the gene–age interactions in HDL cholesterol, LDL cholesterol, and triglyceride levels: The impact of the SORT1 polymorphism on LDL cholesterol levels is age dependent

Shirts, B. H., Hasstedt, S. J., Hopkins, P. N., & Hunt, S. C. (2011) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2011.03.008 · Cited by 37

Disease-associated alleles in genome-wide association studies are enriched for derived low frequency alleles relative to HapMap and neutral expectations

Lachance, J. (2010) · BMC Medical Genomics · doi:10.1186/1755-8794-3-57 · Cited by 36

Mirror, mirror on the wall: which microbiomes will help heal them all?

Nayak, R. R., & Turnbaugh, P. J. (2016) · BMC Medicine · doi:10.1186/s12916-016-0622-6 · Cited by 36

Genetic risks and childhood-onset asthma

Cookson, W., Moffatt, M. F., & Strachan, D. P. (2011) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2011.06.026 · Cited by 37

Genome-wide and gene-based association implicates FRMD6 in alzheimer disease

Hong, M., Reynolds, C. A., Feldman, A. L., Kallin, M., Lambert, J., Amouyel, P., Ingelsson, E., Pedersen, N. L., & Prince, J. A. (2011) · Human Mutation · doi:10.1002/humu.22009 · Cited by 35

On statistical methods for estimating heritability in wild populations

Sillanpää, M. J. (2011) · Molecular Ecology · doi:10.1111/j.1365-294x.2011.05021.x · Cited by 36

The genetic side of type 2 diabetes – A review

Cuschieri, S. (2019) · Diabetes & Metabolic Syndrome Clinical Research & Reviews · doi:10.1016/j.dsx.2019.07.012 · Cited by 37

Visual motion and rapid auditory processing are solid endophenotypes of developmental dyslexia

Mascheretti, S., Gori, S., Trezzi, V., Ruffino, M., Facoetti, A., & Marino, C. (2017) · Genes Brain & Behavior · doi:10.1111/gbb.12409 · Cited by 36

ADHD and reification: Four ways a psychiatric construct is portrayed as a disease

Meerman, S. T., Freedman, J. E., & Batstra, L. (2022) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2022.1055328 · Cited by 39

Implications of sex‐specific selection for the genetic basis of disease

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Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers

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Genes and Politics: A New Explanation and Evaluation of Twin Study Results and Association Studies in Political Science

Shultziner, D. (2013) · Political Analysis · doi:10.1093/pan/mps035 · Cited by 35

Lost in the space of bioinformatic tools: A constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox

Coassin, S., Kloss‐Brandstätter, A., & Kronenberg, F. (2009) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2009.10.026 · Cited by 35

Mining the LIPG Allelic Spectrum Reveals the Contribution of Rare and Common Regulatory Variants to HDL Cholesterol

Khetarpal, S. A., Edmondson, A. C., Raghavan, A., Neeli, H., Jin, W., Badellino, K. O., Demissie, S., Manning, A. K., DerOhannessian, S. L., Wolfe, M. L., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002393 · Cited by 37

Does genetic heterogeneity account for the divergent risk of type 2 diabetes in South Asian and white European populations?

Sohani, Z. N., Deng, W. Q., Paré, G., Meyre, D., Gerstein, H. C., & Anand, S. S. (2014) · Diabetologia · doi:10.1007/s00125-014-3354-1 · Cited by 35

Advances in multidisciplinary and cross-species approaches to examine the neurobiology of psychiatric disorders

Kas, M. J., Krishnan, V., Gould, T. D., Collier, D. A., Olivier, B., Lesch, K., Domenici, E., Fuchs, E., Gross, C. T., & Ċastrén, E. (2011) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2010.12.001 · Cited by 36

Enrichment of Minor Alleles of Common SNPs and Improved Risk Prediction for Parkinson's Disease

Zhu, Z., Yuan, D., Luo, D., Lu, X., & Huang, S. (2015) · PLoS ONE · doi:10.1371/journal.pone.0133421 · Cited by 34

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

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Sepsis: Personalized Medicine Utilizing ‘Omic’ Technologies—A Paradigm Shift?

Itenov, T. S., Murray, D. D., & Jensen, J. S. (2018) · Healthcare · doi:10.3390/healthcare6030111 · Cited by 35

HLA ‐C: An Accomplice in Rheumatic Diseases

Siegel, R. J., Bridges, S. L., & Ahmed, S. (2019) · ACR Open Rheumatology · doi:10.1002/acr2.11065 · Cited by 35

Stories that can’t be told by SNPs; DNA methylation variation in plant populations

Noshay, J. M., & Springer, N. M. (2021) · Current Opinion in Plant Biology · doi:10.1016/j.pbi.2020.101989 · Cited by 35

Detecting Local Haplotype Sharing and Haplotype Association

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Rare variation at the TNFAIP3 locus and susceptibility to rheumatoid arthritis

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Collective feature selection to identify crucial epistatic variants

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Canonical correlations reveal adaptive loci and phenotypic responses to climate in perennial ryegrass

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T2DM: Why Epigenetics?

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Using LASSO regression to detect predictive aggregate effects in genetic studies

Fontanarosa, J., & Dai, Y. D. (2011) · BMC Proceedings · doi:10.1186/1753-6561-5-s9-s69 · Cited by 35

From GWAS to the clinic: risk factors for intracranial aneurysms

Ruigrok, Y. M., & Rinkel, G. J. E. (2010) · Genome Medicine · doi:10.1186/gm182 · Cited by 32

Genome-wide interaction study of smoking behavior and non-small cell lung cancer risk in Caucasian population

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A Review of Ant Colony Optimization Based Methods for Detecting Epistatic Interactions

Shang, J., Wang, X., Wu, X., Sun, Y., Ding, Q., Liu, J., & Zhang, H. (2019) · IEEE Access · doi:10.1109/access.2019.2894676 · Cited by 33

Revision of Drusinae subfamily (Trichoptera, Limnephilidae): divergence by paraproct and paramere: speciation in isolation by integration

Oláh, J., Beshkov, S., Chvojka, P., Ciubuc, C., Coppa, G., Ibrahimi, H., Kovács, T., Mey, W., & Oláh, J. (2017) · Opuscula Zoologica · doi:10.18348/opzool.2017.s1.3 · Cited by 33

Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits

Zaitlen, N., Kraft, P., Patterson, N., Pasaniuc, B., Bhatia, G., Pollack, S., & Price, A. L. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003520 · Cited by 32

Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease†

Spataro, N., Calafell, F., Cervera‐Carles, L., Casals, F., Pagonabarraga, J., Pascual‐Sedano, B., Campolongo, A., Kulisevsky, J., Lleó, A., Navarro, A., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu616 · Cited by 32

Estimating directional epistasis

Rouzic, A. L. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00198 · Cited by 32

Genome-wide study of early and severe childhood asthma identifies interaction between CDHR3 and GSDMB

Eliasen, A. U., Pedersen, C. E. T., Rasmussen, M. A., Wang, N., Soverini, M., Fritz, A., Stokholm, J., Chawes, B., Morin, A., Bork‐Jensen, J., et al. (2022) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2022.03.019 · Cited by 32

Stratified medicine for the use of antidiabetic medication in treatment of type II diabetes and cancer: where do we go from here?

Riedmaier, A. E., Schaeffeler, E., Nies, A. T., Mörike, K., & Schwab, M. G. (2014) · Journal of Internal Medicine · doi:10.1111/joim.12330 · Cited by 33

GWAS ‐based pathway analysis differentiates between fluid and crystallized intelligence

Christoforou, A., Espeseth, T., Davies, G., Fernandes, C. P. D., Giddaluru, S., Mattheisen, M., Tenesa, A., Harris, S. E., Liewald, D. C. M., Payton, A., et al. (2014) · Genes Brain & Behavior · doi:10.1111/gbb.12152 · Cited by 31

Strong impact of natural-selection–free heterogeneity in genetics of age-related phenotypes

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FunctSNP: an R package to link SNPs to functional knowledge and dbAutoMaker: a suite of Perl scripts to build SNP databases

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Polymorphisms of the Scavenger Receptor Class B Member 1 Are Associated with Insulin Resistance with Evidence of Gene by Sex Interaction

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GPU-accelerated exhaustive search for third-order epistatic interactions in case–control studies

González‐Domínguez, J., & Schmidt, B. (2015) · Journal of Computational Science · doi:10.1016/j.jocs.2015.04.001 · Cited by 31

The gene in its natural habitat: The importance of gene–trait interactions

DeYoung, C. G., & Clark, R. (2012) · Development and Psychopathology · doi:10.1017/s0954579412000727 · Cited by 31

Narrow-sense heritability and PST estimates of DNA methylation in three Populus nigra L. populations under contrasting water availability

Sow, M. D., Segura, V., Chamaillard, S., Jorge, V., Delaunay, A., Placette, C. L., Fichot, R., Rampant, P. F., Villar, M., Brignolas, F., et al. (2018) · Tree Genetics & Genomes · doi:10.1007/s11295-018-1293-6 · Cited by 34

Down-regulated RGS5 by genetic variants impairs endothelial cell function and contributes to coronary artery disease.

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DNA hypomethylation of the host tree impairs interaction with mutualistic ectomycorrhizal fungus

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How meaningful are heritability estimates of liability?

Benchek, P., & Morris, N. J. (2013) · Human Genetics · doi:10.1007/s00439-013-1334-z · Cited by 33

Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets

Fuentes, L. D. L., Yang, W., Dávila‐Román, V. G., & Gu, C. C. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.66 · Cited by 31

Understanding coronary artery disease using twin studies

Mangino, M., & Spector, T. D. (2012) · Heart · doi:10.1136/heartjnl-2012-303001 · Cited by 31

The power of regional heritability analysis for rare and common variant detection: simulations and application to eye biometrical traits

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Rare variants in TMEM132D in a case–control sample for panic disorder

Quast, C., Altmann, A., Weber, P. C., Arloth, J., Bader, D. M., Heck, A., Pfister, H., Müller‐Myhsok, B., Erhardt, A., & Binder, E. B. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32096 · Cited by 31

Biology, Development, and Human Systems

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A New Genotype Imputation Method with Tolerance to High Missing Rate and Rare Variants

Yang, Y., Wang, Q., Chen, Q., Liao, R., Zhang, X., Yang, H., Zheng, Y., Zhang, Z., & Pan, Y. (2014) · PLoS ONE · doi:10.1371/journal.pone.0101025 · Cited by 31

A powerful test for multiple rare variants association studies that incorporates sequencing qualities

Daye, Z. J., Li, H., & Wei, Z. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks024 · Cited by 30

Developmental Origins of Common Disease: Epigenetic Contributions to Obesity

Deyssenroth, M. A., Wright, R. O., & Sanders, A. P. (2016) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090314-050057 · Cited by 30

Gene–Environment Interplay and Individual Differences in Behavior

Anreiter, I., Sokolowski, H. M., & Sokolowski, M. B. (2017) · Mind Brain and Education · doi:10.1111/mbe.12158 · Cited by 34

A Survey of Copy Number Variation in the Porcine Genome Detected From Whole-Genome Sequence

Keel, B. N., Nonneman, D., Lindholm‐Perry, A. K., Oliver, W. T., & Rohrer, G. A. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00737 · Cited by 31

Is gastroschisis truly a sporadic defect? Familial cases of gastroschisis in Utah, 1997 to 2008

Feldkamp, M. L., Carey, J. C., Pimentel, R., Krikov, S. V., & Botto, L. D. (2011) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.22844 · Cited by 29

Tandem repeat sequence variation as causative Cis-eQTLs for protein-coding gene expression variation: The case of CSTB

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Evaluation of genetic loci influencing adult height in the Japanese population

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FPGA-based Acceleration of Detecting Statistical Epistasis in GWAS

Wienbrandt, L., Kässens, J. C., González‐Domínguez, J., Schmidt, B., Ellinghaus, D., & Schimmler, M. (2014) · Procedia Computer Science · doi:10.1016/j.procs.2014.05.020 · Cited by 30

Integrating post-genomic approaches as a strategy to advance our understanding of health and disease

Tang, J. P., Tan, C. E., Orešič, M., & Vidal‐Puig, A. (2009) · Genome Medicine · doi:10.1186/gm35 · Cited by 30

SigMod: an exact and efficient method to identify a strongly interconnected disease-associated module in a gene network

Liu, Y., Brossard, M., Roqueiro, D., Margaritte‐Jeannin, P., Sarnowski, C., Bouzigon, E., & Démenais, F. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btx004 · Cited by 30

Identifying proteins controlling key disease signaling pathways

Gitter, A., & Bar-joseph, Z. (2013) · Bioinform. · doi:10.1093/bioinformatics/btt241 · Cited by 36

High burden of private mutations due to explosive human population growth and purifying selection

Gao, F., & Keinan, A. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-s4-s3 · Cited by 29

Embracing Complex Associations in Common Traits: Critical Considerations for Precision Medicine

Hall, M. A., Moore, J. H., & Ritchie, M. D. (2016) · Trends in Genetics · doi:10.1016/j.tig.2016.06.001 · Cited by 30

Dissolving the Missing Heritability Problem

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Multi-Environmental Trials Reveal Genetic Plasticity of Oat Agronomic Traits Associated With Climate Variable Changes

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