Genetic heterogeneity in human disease.
paper
Cited
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- Authors
- McClellan, Jon; King, Mary-Claire
- Year
- 2010
- Journal
- Cell
- PMID
- 20403315
- DOI
- 10.1016/j.cell.2010.03.032
Strong evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease. Evolutionary forces generate vast genetic heterogeneity in human illness by introducing many new variants in each generation. Current sequencing technologies offer the possibility of finding rare disease-causing mutations and the genes that harbor them.
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| Clustering on hierarchical heterogeneous data with prior pairwise relationships. | Han W et al. | β | 2024 | β |
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| Distinct genetic liability profiles define clinically relevant patient strata across common diseases. | Trastulla L et al. | β | 2024 | β |
| DNA cytosine methyltransferases differentially regulate genome-wide hypermutation and interhomolog recombination in Trichoderma reesei meiosis. | Jovanska L et al. | β | 2024 | β |
| Functional Genomics in Psoriasis. | Rossi S et al. | β | 2024 | β |
| Genetic and molecular architecture of complex traits. | Lappalainen T et al. | β | 2024 | β |
| Genetic architecture reconciles linkage and association studies of complex traits. | Sidorenko J et al. | β | 2024 | β |
| GWAS advancements to investigate disease associations and biological mechanisms. | Omidiran O et al. | β | 2024 | β |
| Integration of biological data via NMF for identification of human disease-associated gene modules through multi-label classification. | Alberuni S et al. | β | 2024 | β |
| Label-free single-cell RNA multiplexing leveraging genetic variability. | Hoeft K et al. | β | 2024 | β |
| Polygenic Indices (a.k.a. Polygenic Scores) in Social Science: A Guide for Interpretation and Evaluation. | Burt CH | β | 2024 | β |
| Polygenic profiles define aspects of clinical heterogeneity in attention deficit hyperactivity disorder. | LaBianca S et al. | β | 2024 | β |
| The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease. | O'Brien CL et al. | β | 2024 | β |
| Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder. | Salemi M et al. | β | 2024 | β |
| Two-step consensus clustering approach to immune cell infiltration: An integrated exploration and validation of prognostic and immune implications in sarcomas. | Li AY et al. | β | 2024 | β |
| Unraveling the Immune Web: Advances in SMI Capsular Fibrosis from Molecular Insights to Preclinical Breakthroughs. | Schoberleitner I et al. | β | 2024 | β |
| All that glisters is not gold: Genetics and social science. | Burt CH | β | 2023 | β |
| Association between Neuroligin-1 polymorphism and plasma glutamine levels in individuals with autism spectrum disorder. | Lee IH et al. | β | 2023 | β |
| Chewing the fat: How lipidomics is changing our understanding of human health and disease in 2022. | GΓ©hin C et al. | β | 2023 | β |
| Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies. | O'Neill MJ et al. | β | 2023 | β |
| Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules. | Cui Q et al. | β | 2023 | β |
| Expectile Neural Networks for Genetic Data Analysis of Complex Diseases. | Lin J et al. | β | 2023 | β |
| Genome-Wide Analysis of Rare Haplotypes Associated with Breast Cancer Risk. | Wang F et al. | β | 2023 | β |
| Higher-order genetic interaction discovery with network-based biological priors. | Pellizzoni P et al. | β | 2023 | β |
| Inference on the Genetic Architecture of Breast Cancer Risk. | Yasui Y et al. | β | 2023 | β |
| Knowledge, attitudes and experiences of genetic testing for autism spectrum disorders among caregivers, patients, and health providers: A systematic review. | Zhou M et al. | β | 2023 | β |
| Polymorphisms in corticotrophin-releasing hormone-proopiomalanocortin (CRH-POMC) system genes: Neuroimmune contributions to psoriasis disease. | Galimova E et al. | β | 2023 | β |
| Practitioner Review: Psychosis in children and adolescents. | Sunshine A et al. | β | 2023 | β |
| Refining the genetic risk of breast cancer with rare haplotypes and pattern mining. | Letsou W et al. | β | 2023 | β |
| Robust SNP-based prediction of rheumatoid arthritis through machine-learning-optimized polygenic risk score. | Lim AJW et al. | β | 2023 | β |
| Template-jumping prime editing enables large insertion and exon rewriting in vivo. | Zheng C et al. | β | 2023 | β |
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| Whole-exome sequencing study of hypospadias. | Chen Z et al. | β | 2023 | β |
| 3'aQTL-atlas: an atlas of 3'UTR alternative polyadenylation quantitative trait loci across human normal tissues. | Cui Y et al. | β | 2022 | β |
| A conditional autoregressive model for genetic association analysis accounting for genetic heterogeneity. | Shen X et al. | β | 2022 | β |
| A Dual Ranking Algorithm Based on the Multiplex Network for Heterogeneous Complex Disease Analysis. | Li X et al. | β | 2022 | β |
| A Framework for Modeling and Interpreting Patient Subgroups Applied to Hospital Readmission: Visual Analytical Approach. | Bhavnani SK et al. | β | 2022 | β |
| A general framework for identifying oligogenic combinations of rare variants in complex disorders. | Pounraja VK et al. | β | 2022 | β |
| An integrative study of the microbiome gut-brain-axis and hippocampal inflammation in psychosis: Persistent effects from mode of birth. | Joe P et al. | β | 2022 | β |
| Cellular heterogeneity in disease severity and clinical outcome: Granular understanding of immune response is key. | Khare K et al. | β | 2022 | β |
| Challenging the utility of polygenic scores for social science: Environmental confounding, downward causation, and unknown biology. | Burt CH | β | 2022 | β |
| Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of <i>CTTNBP2</i> in a Quad Family Affected by Autism Spectrum Disorder. | Xie Y et al. | β | 2022 | β |
| De novo mutation rates at the single-mutation resolution in a human <i>HBB</i> gene region associated with adaptation and genetic disease. | Melamed D et al. | β | 2022 | β |
| Determinants of trafficking, conduction, and disease within a K<sup>+</sup> channel revealed through multiparametric deep mutational scanning. | Coyote-Maestas W et al. | β | 2022 | β |
| ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell. | Leung AW et al. | β | 2022 | β |
| Efficient targeted insertion of large DNA fragments without DNA donors. | Wang J et al. | β | 2022 | β |
| Empirical assessment of allele frequencies of genome wide association study variants associated with obstructive sleep apnea. | Mohit et al. | β | 2022 | β |
| Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries. | Smith SP et al. | β | 2022 | β |
| Fetal neurodevelopmental spatio-temporal dynamic transcriptional landscape of maternal insult-induce autism spectrum disorder risk. | Duan L et al. | β | 2022 | β |
| Gene-Interaction-Sensitive enrichment analysis in congenital heart disease. | Woodward AA et al. | β | 2022 | β |
| Genetic architecture of tuberculosis susceptibility: A comprehensive research synopsis, meta-analyses, and epidemiological evidence. | Jiao L et al. | β | 2022 | β |
| Genetic heterogeneity: Challenges, impacts, and methods through an associative lens. | Woodward AA et al. | β | 2022 | β |
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| Non-reference genome transposable elements (TEs) have a significant impact on the progression of the Parkinson's disease. | KΓ΅ks S et al. | β | 2022 | β |
| Protein interaction networks define the genetic architecture of preterm birth. | Uzun A et al. | β | 2022 | β |
| Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation. | Wang G et al. | β | 2022 | β |
| Recent advances and challenges of rare variant association analysis in the biobank sequencing era. | Chen W et al. | β | 2022 | β |
| SMetABF: A rapid algorithm for Bayesian GWAS meta-analysis with a large number of studies included. | Sun J et al. | β | 2022 | β |
| Systems genomics in age-related macular degeneration. | den Hollander AI et al. | β | 2022 | β |
| Whole-Exome Sequencing of Germline Variants in Non-<i>BRCA</i> Families with Hereditary Breast Cancer. | Liu Y et al. | β | 2022 | β |
| Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients. | Tan M et al. | β | 2022 | β |
| A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity. | Zhang P et al. | β | 2021 | β |
| A Hypothesis: The Interplay of Exercise and Physiological Heterogeneity as Drivers of Human Ageing. | Lazarus NR et al. | β | 2021 | β |
| Biomarker-guided heterogeneity analysis of genetic regulations via multivariate sparse fusion. | Zhang S et al. | β | 2021 | β |
| Deep neural networks identify signaling mechanisms of ErbB-family drug resistance from a continuous cell morphology space. | Longden J et al. | β | 2021 | β |
| DGK and DZHK position paper on genome editing: basic science applications and future perspective. | Brandes RP et al. | β | 2021 | β |
| Drug repurposing for COVID-19: Approaches, challenges and promising candidates. | Ng YL et al. | β | 2021 | β |
| Duo Shared Genomic Segment analysis identifies a genome-wide significant risk locus at 18q21.33 in myeloma pedigrees. | Griffin Waller R et al. | β | 2021 | β |
| Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare <i>KCNH2</i> Variants. | Kozek K et al. | β | 2021 | β |
| FKBP-CaN-NFAT pathway polymorphisms selected by in silico biological function prediction are associated with tacrolimus efficacy in renal transplant patients. | Zheng X et al. | β | 2021 | β |
| Functional Common and Rare <i>ERBB2</i> Germline Variants Cooperate in Familial and Sporadic Cancer Susceptibility. | Bao R et al. | β | 2021 | β |
| Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation. | Hosen MJ et al. | β | 2021 | β |
| Genetic Epidemiology of Complex Phenotypes. | O'Rielly DD et al. | β | 2021 | β |
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| Identification of differentially expressed gene modules in heterogeneous diseases. | Zolotareva O et al. | β | 2021 | β |
| Identification of New Rare Variants Associated With Familial Autoimmune Thyroid Diseases by Deep Sequencing of Linked Loci. | Li CW et al. | β | 2021 | β |
| Identifying Susceptibility Loci for Cutaneous Squamous Cell Carcinoma Using a Fast Sequence Kernel Association Test. | Huang M et al. | β | 2021 | β |
| Inherited Kidney Complement Diseases. | Lemaire M et al. | β | 2021 | β |
| Metabolic syndrome and male fertility disorders: Is there a causal link? | Cohen DJ et al. | β | 2021 | β |
| Neonatal Seizures: An Overview of Genetic Causes and Treatment Options. | Spoto G et al. | β | 2021 | β |
| Network-guided search for genetic heterogeneity between gene pairs. | Gumpinger AC et al. | β | 2021 | β |
| ORN: Inferring patient-specific dysregulation status of pathway modules in cancer with OR-gate Network. | Liang L et al. | β | 2021 | β |
| Personalization of medical treatments in oncology: time for rethinking the disease concept to improve individual outcomes. | Bizzarri M et al. | β | 2021 | β |
| Population genetic considerations for using biobanks as international resources in the pandemic era and beyond. | Carress H et al. | β | 2021 | β |
| Prevalence and Adaptive Impact of Introgression. | Edelman NB et al. | β | 2021 | β |
| Prevalence and Spectrum of Predisposition Genes With Germline Mutations Among Chinese Patients With Bowel Cancer. | Xie Z et al. | β | 2021 | β |
| Set-based genetic association and interaction tests for survival outcomes based on weighted V statistics. | Li C et al. | β | 2021 | β |
| Signature-based approaches for informed drug repurposing: targeting CNS disorders. | Shukla R et al. | β | 2021 | β |
| The Genetics of Human Schistosomiasis Infection Intensity and Liver Disease: A Review. | Mewamba EM et al. | β | 2021 | β |
| The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. | de Bruijn SE et al. | β | 2021 | β |
| The similarity of inherited diseases (I): clinical similarity within the phenotypic series. | Gamba A et al. | β | 2021 | β |
| Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease. | Terhune EA et al. | β | 2021 | β |
| Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia. | Chen X et al. | β | 2021 | β |
| A de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle. | Gehrke LJ et al. | β | 2020 | β |
| A Multiplex Human Pluripotent Stem Cell Platform Defines Molecular and Functional Subclasses of Autism-Related Genes. | Cederquist GY et al. | β | 2020 | β |
| A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line. | Kishore S et al. | β | 2020 | β |
| Assessment of coverage for endogenous metabolites and exogenous chemical compounds using an untargeted metabolomics platform. | Kong SW et al. | β | 2020 | β |
| Association and interaction of the FTO rs1421085 with overweight/obesity in a sample of Pakistani individuals. | Rana S et al. | β | 2020 | β |
| Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective. | Kuriyama S et al. | β | 2020 | β |
| Combined analysis of whole-exon sequencing and lncRNA sequencing in type 2 diabetes mellitus patients with obesity. | An T et al. | β | 2020 | β |
| Common germline-somatic variant interactions in advanced urothelial cancer. | Vosoughi A et al. | β | 2020 | β |
| Comparison of unsupervised machine-learning methods to identify metabolomic signatures in patients with localized breast cancer. | Gal J et al. | β | 2020 | β |
| Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast Cancer <i>Quae Exempli Causa</i>. | Jurj MA et al. | β | 2020 | β |
| Cytokines mapping for tissue-specific expression, eQTLs and GWAS traits. | Salnikova LE et al. | β | 2020 | β |
| Deep Profiling of Cellular Heterogeneity by Emerging Single-Cell Proteomic Technologies. | Yang L et al. | β | 2020 | β |
| Detection of Marker-Free Precision Genome Editing and Genetic Variation through the Capture of Genomic Signatures. | Billon P et al. | β | 2020 | β |
| Different kinetics for the hepatic uptake of lipid nanoparticles between the apolipoprotein E/low density lipoprotein receptor and the N-acetyl-d-galactosamine/asialoglycoprotein receptor pathway. | Sato Y et al. | β | 2020 | β |
| Ethical issues in global neuroimaging genetics collaborations. | Palk A et al. | β | 2020 | β |
| Evolution of drug delivery system from viewpoint of controlled intracellular trafficking and selective tissue targeting toward future nanomedicine. | Yamada Y et al. | β | 2020 | β |
| Genetic architecture of a body colour cline in Drosophila americana. | Sramkoski LL et al. | β | 2020 | β |
| Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research. | Rajan R et al. | β | 2020 | β |
| Genetic Fine Mapping and Genomic Annotation Defines Causal Mechanisms at A Novel Colorectal Cancer Susceptibility Locus in Han Chinese. | Jiang K et al. | β | 2020 | β |
| Genetic Influences on Disease Subtypes. | Dahl A et al. | β | 2020 | β |
| Genetics of rheumatic fever and rheumatic heart disease. | Muhamed B et al. | β | 2020 | β |
| Genetics of schizophrenia in the South African Xhosa. | Gulsuner S et al. | β | 2020 | β |
| Genome wide association study of 40 clinical measurements in eight dog breeds. | Momozawa Y et al. | β | 2020 | β |
| Genomic regions influencing aggressive behavior in honey bees are defined by colony allele frequencies. | Avalos A et al. | β | 2020 | β |
| Genomic Variation, Evolvability, and the Paradox of Mental Illness. | Gualtieri CT | β | 2020 | β |
| Germline Features Associated with Immune Infiltration in Solid Tumors. | Shahamatdar S et al. | β | 2020 | β |
| Human CRY1 variants associate with attention deficit/hyperactivity disorder. | Onat OE et al. | β | 2020 | β |
| Integrative Omics for Informed Drug Repurposing: Targeting CNS Disorders | Shukla R et al. | β | 2020 | β |
| Intracellular Entropy-Driven Multi-Bit DNA Computing for Tumor Progression Discrimination. | Bai M et al. | β | 2020 | β |
| Lessons Learned from CNV Analysis of Major Birth Defects. | Hilger AC et al. | β | 2020 | β |
| Longitudinal whole-genome sequencing reveals the evolution of MPAL. | Zhang Y et al. | β | 2020 | β |
| Neurocognitive impairment in type 2 diabetes: evidence for shared genetic aetiology. | Mollon J et al. | β | 2020 | β |
| Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese. | Xing Y et al. | β | 2020 | β |
| Proteinarium: Multi-sample protein-protein interaction analysis and visualization tool. | Armanious D et al. | β | 2020 | β |
| Quantitative analysis of proteins which are members of the same protein complex but cause locus heterogeneity in disease. | Gamba A et al. | β | 2020 | β |
| Rediscovery of natural compounds acting via multitarget recognition and noncanonical pharmacodynamical actions. | Bizzarri M et al. | β | 2020 | β |
| Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis. | Rich KA et al. | β | 2020 | β |
| Strategies for whole-exome sequencing analysis in a case series study of familial male infertility. | Askari M et al. | β | 2020 | β |
| Transcription Factor Enrichment Analysis in Enhancers Identifies EZH2 as a Susceptibility Gene for Osteoporosis. | Li M et al. | β | 2020 | β |
| Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes. | Etemadikhah M et al. | β | 2020 | β |
| Type 2 diabetes mellitus: pathogenesis and genetic diagnosis. | Himanshu D et al. | β | 2020 | β |
| Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis. | Boucher S et al. | β | 2020 | β |
| A Fanci knockout mouse model reveals common and distinct functions for FANCI and FANCD2. | Dubois EL et al. | β | 2019 | β |
| Allele frequency of pathogenic variants related to adult-onset Mendelian diseases. | Li X et al. | β | 2019 | β |
| A Novel Gene Underlies Bleomycin-Response Variation in <i>Caenorhabditis elegans</i>. | Brady SC et al. | β | 2019 | β |
| Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. | Wright CF et al. | β | 2019 | β |
| A Survey of Gene Prioritization Tools for Mendelian and Complex Human Diseases. | Zolotareva O et al. | β | 2019 | β |
| Asymmetric independence modeling identifies novel gene-environment interactions. | Yu G et al. | β | 2019 | β |
| Benefits and limitations of genome-wide association studies. | Tam V et al. | β | 2019 | β |
| Brain Organoids as Tools for Modeling Human Neurodevelopmental Disorders. | Adams JW et al. | β | 2019 | β |
| Clinical-pathological correlations of BAV and the attendant thoracic aortopathies. Part 2: Pluridisciplinary perspective on their genetic and molecular origins. | Pasipoularides A | β | 2019 | β |
| Comprehensive functional annotation of susceptibility SNPs prioritized 10 genes for schizophrenia. | Niu HM et al. | β | 2019 | β |
| Dissecting the syndrome of schizophrenia: Associations between symptomatology and hormone levels in women with schizophrenia. | Thomas N et al. | β | 2019 | β |
| Engineering Cell Membrane-Based Nanotherapeutics to Target Inflammation. | Yan H et al. | β | 2019 | β |
| Estimating Sample-Specific Regulatory Networks. | Kuijjer ML et al. | β | 2019 | β |
| Exome Sequencing in <i>BRCA1-</i> and <i>BRCA2</i>-Negative Greek Families Identifies <i>MDM1</i> and <i>NBEAL1</i> as Candidate Risk Genes for Hereditary Breast Cancer. | Glentis S et al. | β | 2019 | β |
| Genetics and Epigenetics of Infertility and Treatments on Outcomes. | Pisarska MD et al. | β | 2019 | β |
| Genomic Diversity Evaluation of <i>Populus trichocarpa</i> Germplasm for Rare Variant Genetic Association Studies. | Piot A et al. | β | 2019 | β |
| Genomic Enhancers in Brain Health and Disease. | Carullo NVN et al. | β | 2019 | β |
| Getting to the Cores of Autism. | Iakoucheva LM et al. | β | 2019 | β |
| Growing synergy of nanodiamonds in neurodegenerative interventions. | Saraf J et al. | β | 2019 | β |
| Homozygosity for <i>TYK2</i> P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry. | Kerner G et al. | β | 2019 | β |
| Identification of rare variants of allergic rhinitis based on whole genome sequencing and gene expression profiling: A preliminary investigation in four families. | Zhang Y et al. | β | 2019 | β |
| Identifying Multi-Omics Causers and Causal Pathways for Complex Traits. | Qin H et al. | β | 2019 | β |
| Imputation accuracy of wheat genotyping-by-sequencing (GBS) data using barley and wheat genome references. | Alipour H et al. | β | 2019 | β |
| Integrating regulatory features data for prediction of functional disease-associated SNPs. | Dong SS et al. | β | 2019 | β |
| <i>Complement C7</i> is a novel risk gene for Alzheimer's disease in Han Chinese. | Zhang DF et al. | β | 2019 | β |
| Modeling Psychiatric Diseases with Induced Pluripotent Stem Cells. | van Hugte E et al. | β | 2019 | β |
| Morphomechanic phenotypic variability of sarcomeric cardiomyopathies: A multifactorial polygenic perspective. | Pasipoularides A | β | 2019 | β |
| No Support for Historical Candidate Gene or Candidate Gene-by-Interaction Hypotheses for Major Depression Across Multiple Large Samples. | Border R et al. | β | 2019 | β |
| Polygenic Adaptation to an Environmental Shift: Temporal Dynamics of Variation Under Gaussian Stabilizing Selection and Additive Effects on a Single Trait. | Thornton KR | β | 2019 | β |
| Rare missense variants in the human cytosolic antibody receptor preserve antiviral function. | Zeng J et al. | β | 2019 | β |
| Recent advances in the targeting of systemically administered non-viral gene delivery systems. | Khalil IA et al. | β | 2019 | β |
| Rediscovering the value of families for psychiatric genetics research. | Glahn DC et al. | β | 2019 | β |
| Revisit Population-based and Family-based Genotype Imputation. | Liu CT et al. | β | 2019 | β |
| Somatic Mutation of <i>PIK3CA</i> (H1047R) Is a Common Driver Mutation Hotspot in Canine Mammary Tumors as Well as Human Breast Cancers. | Lee KH et al. | β | 2019 | β |
| Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits. | Chakraborty M et al. | β | 2019 | β |
| The capacity of wastewater treatment plants drives bacterial community structure and its assembly. | Kim YK et al. | β | 2019 | β |
| The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 Diabetes. | Flannick J | β | 2019 | β |
| The fog of genetics: what is known, unknown and unknowable in the genetics of complex traits and diseases. | de MagalhΓ£es JP et al. | β | 2019 | β |
| The Genetic Basis of Metabolic Disease. | Barroso I et al. | β | 2019 | β |
| The Genetic Variability of <i>APOE</i> in Different Human Populations and Its Implications for Longevity. | Abondio P et al. | β | 2019 | β |
| Therapeutic Silencing of Centromere Protein X Ameliorates Hyperglycemia in Zebrafish and Mouse Models of Type 2 Diabetes Mellitus. | Zang L et al. | β | 2019 | β |
| What Is Karyotype Coding and Why Is Genomic Topology Important for Cancer and Evolution? | Ye CJ et al. | β | 2019 | β |
| A collective diabetes cross in combination with a computational framework to dissect the genetics of human obesity and Type 2 diabetes. | Vogel H et al. | β | 2018 | β |
| A computational biology approach of a genome-wide screen connected miRNAs to obesity and type 2 diabetes. | Gottmann P et al. | β | 2018 | β |
| Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases. | GonzΓ‘lez-Duarte A et al. | β | 2018 | β |
| Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B. | van der Sluis R | β | 2018 | β |
| Analysis of pedigree data in populations with multiple ancestries: Strategies for dealing with admixture in Caribbean Hispanic families from the ADSP. | Nafikov RA et al. | β | 2018 | β |
| araGWAB: Network-based boosting of genome-wide association studies in Arabidopsis thaliana. | Lee T et al. | β | 2018 | β |
| A Systems Approach to Refine Disease Taxonomy by Integrating Phenotypic and Molecular Networks. | Zhou X et al. | β | 2018 | β |
| Bacteriophages as New Human Viral Pathogens. | Tetz G et al. | β | 2018 | β |
| Comprehensive review and annotation of susceptibility SNPs associated with obesity-related traits. | Dong SS et al. | β | 2018 | β |
| Contribution of genes in the GABAergic pathway to bipolar disorder and its executive function deficit in the Chinese Han population. | Ren H et al. | β | 2018 | β |
| Decoding the Genomics of Abdominal Aortic Aneurysm. | Li J et al. | β | 2018 | β |
| Detecting Rare Mutations with Heterogeneous Effects Using a Family-Based Genetic Random Field Method. | Li M et al. | β | 2018 | β |
| Effective discovery of rare variants by pooled target capture sequencing: A comparative analysis with individually indexed target capture sequencing. | Ryu S et al. | β | 2018 | β |
| ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations. | Zhou H et al. | β | 2018 | β |
| Epistasis between Pax6<sup>Sey</sup> and genetic background reinforces the value of defined hybrid mouse models for therapeutic trials. | Hickmott JW et al. | β | 2018 | β |
| Estimates of the Heritability of Human Longevity Are Substantially Inflated due to Assortative Mating. | Ruby JG et al. | β | 2018 | β |
| Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees. | Jun G et al. | β | 2018 | β |
| Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis. | Meng F et al. | β | 2018 | β |
| Genetic disease risks can be misestimated across global populations. | Kim MS et al. | β | 2018 | β |
| Homology-independent multiallelic disruption via CRISPR/Cas9-based knock-in yields distinct functional outcomes in human cells. | Zhang C et al. | β | 2018 | β |
| H<sub>2</sub>O<sub>2</sub>-responsive and plaque-penetrating nanoplatform for mTOR gene silencing with robust anti-atherosclerosis efficacy. | Gao W et al. | β | 2018 | β |
| Human Genomic Loci Important in Common Infectious Diseases: Role of High-Throughput Sequencing and Genome-Wide Association Studies. | Mboowa G et al. | β | 2018 | β |
| Insights and Implications of Genome-Wide Association Studies of Height. | Guo MH et al. | β | 2018 | β |
| Mapping morphological shape as a high-dimensional functional curve. | Fu G et al. | β | 2018 | β |
| Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese. | Wang D et al. | β | 2018 | β |
| NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. | Fernandez-Marmiesse A et al. | β | 2018 | β |
| Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk. | Waller RG et al. | β | 2018 | β |
| Pathway-based subnetworks enable cross-disease biomarker discovery. | Haider S et al. | β | 2018 | β |
| Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population. | Jiao X et al. | β | 2018 | β |
| Reforming disease classification system-are we there yet? | Dozmorov MG | β | 2018 | β |
| Stem Cells, Genome Editing, and the Path to Translational Medicine. | Soldner F et al. | β | 2018 | β |
| A biological network-based regularized artificial neural network model for robust phenotype prediction from gene expression data. | Kang T et al. | β | 2017 | β |
| A low-frequency variant in SMAD7 modulates TGF-Ξ² signaling and confers risk for colorectal cancer in Chinese population. | Li J et al. | β | 2017 | β |
| A Model of Compound Heterozygous, Loss-of-Function Alleles Is Broadly Consistent with Observations from Complex-Disease GWAS Datasets. | Sanjak JS et al. | β | 2017 | β |
| Artificial Selection Response due to Polygenic Adaptation from a Multilocus, Multiallelic Genetic Architecture. | Zan Y et al. | β | 2017 | β |
| A vast genomic deletion in the C56BL/6 genome affects different genes within the Ifi200 cluster on chromosome 1 and mediates obesity and insulin resistance. | Vogel H et al. | β | 2017 | β |
| Core-shell gold nanocubes for point mutation detection based on plasmon-enhanced fluorescence. | Cui Y et al. | β | 2017 | β |
| Detecting gene subnetworks under selection in biological pathways. | Gouy A et al. | β | 2017 | β |
| eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes. | Babbi G et al. | β | 2017 | β |
| Enabling Comprehension of Patient Subgroups and Characteristics in Large Bipartite Networks: Implications for Precision Medicine. | Bhavnani SK et al. | β | 2017 | β |
| Enhancing the Informativeness and Replicability of Imaging Genomics Studies. | Carter CS et al. | β | 2017 | β |
| Exome Array Analysis Identifies Variants in SPOCD1 and BTN3A2 That Affect Risk for Gastric Cancer. | Zhu M et al. | β | 2017 | β |
| Finding the Sources of Missing Heritability within Rare Variants Through Simulation. | Bandyopadhyay B et al. | β | 2017 | β |
| Fluorescent nanodiamond tracking reveals intraneuronal transport abnormalities induced by brain-disease-related genetic risk factors. | Haziza S et al. | β | 2017 | β |
| Genetic heterogeneity underlying variation in a locally adaptive clinal trait in Pinus sylvestris revealed by a Bayesian multipopulation analysis. | Kujala ST et al. | β | 2017 | β |
| Genetic loci associated with an earlier age at onset in multiplex schizophrenia. | Woolston AL et al. | β | 2017 | β |
| Genetics of coronary artery disease: discovery, biology and clinical translation. | Khera AV et al. | β | 2017 | β |
| Genome-wide association studies and meta-analysis reveal novel quantitative trait loci and pleiotropic loci for swine head-related traits. | Chen H et al. | β | 2017 | β |
| Give GWAS a Chance. | Meyre D | β | 2017 | β |
| GWAB: a web server for the network-based boosting of human genome-wide association data. | Shim JE et al. | β | 2017 | β |
| Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing. | Heo WI et al. | β | 2017 | β |
| Intracellular Nucleic Acid Detection in Autoimmunity. | Crowl JT et al. | β | 2017 | β |
| Natural diversity facilitates the discovery of conserved chemotherapeutic response mechanisms. | Zdraljevic S et al. | β | 2017 | β |
| Neurotransmitter receptor genotypes associated with mental and behavioral disorders. | Varoglu E et al. | β | 2017 | β |
| Outcomes in Child Psychiatry. | McClellan JM et al. | β | 2017 | β |
| Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders. | Ishizuka K et al. | β | 2017 | β |
| Regulatory element-based prediction identifies new susceptibility regulatory variants for osteoporosis. | Yao S et al. | β | 2017 | β |
| Reverse Nearest Neighbor Search on a Protein-Protein Interaction Network to Infer Protein-Disease Associations. | Suratanee A et al. | β | 2017 | β |
| Risk Prediction Modeling on Family-Based Sequencing Data Using a Random Field Method. | Wen Y et al. | β | 2017 | β |
| Sensorimotor Learning: Neurocognitive Mechanisms and Individual Differences. | Seidler RD et al. | β | 2017 | β |
| SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder. | Merker S et al. | β | 2017 | β |
| Social inequality, scientific inequality, and the future of mental illness. | Dean CE | β | 2017 | β |
| The Beavis Effect in Next-Generation Mapping Panels in <i>Drosophila melanogaster</i>. | King EG et al. | β | 2017 | β |
| The clinical implications of molecular monitoring and analyses of inherited retinal diseases. | ChacΓ³n-Camacho OF et al. | β | 2017 | β |
| The Genetic Architecture of Major Depressive Disorder in Han Chinese Women. | Peterson RE et al. | β | 2017 | β |
| The impact of genetics on future drug discovery in schizophrenia. | Matsumoto M et al. | β | 2017 | β |
| The landscape of sex-differential transcriptome and its consequent selection in human adults. | Gershoni M et al. | β | 2017 | β |
| To aggregate or not, that is the question. A commentary on single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing data. | Ott J | β | 2017 | β |
| Two approaches reveal a new paradigm of 'switchable or genetics-influenced allele-specific DNA methylation' with potential in human disease. | Martos SN et al. | β | 2017 | β |
| Using GWAS to identify novel therapeutic targets for osteoporosis. | Sabik OL et al. | β | 2017 | β |
| Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia. | Tang J et al. | β | 2017 | β |
| Absolute pitch in Costa Rica: Distribution of pitch identification ability and implications for its genetic basis. | Chavarria-Soley G | β | 2016 | β |
| Acoustically Propelled Nanomotors for Intracellular siRNA Delivery. | Esteban-FernΓ‘ndez de Γvila B et al. | β | 2016 | β |
| A current snapshot of common genomic variants contribution in psychiatric disorders. | Santoro ML et al. | β | 2016 | β |
| A Killer Immunoglobulin - Like Receptor Gene - Content Haplotype and A Cognate Human Leukocyte Antigen Ligand are Associated with Autism. | Torres A et al. | β | 2016 | β |
| A Multifunctional Envelope-Type Nano Device Containing a pH-Sensitive Cationic Lipid for Efficient Delivery of Short Interfering RNA to Hepatocytes In Vivo. | Sato Y et al. | β | 2016 | β |
| A Review of Childhood-Onset Schizophrenia. | Kendhari J et al. | β | 2016 | β |
| A weighted U statistic for association analyses considering genetic heterogeneity. | Wei C et al. | β | 2016 | β |
| Binomial Mixture Model Based Association Testing to Account for Genetic Heterogeneity for GWAS. | Xu Z et al. | β | 2016 | β |
| Common alleles contribute to schizophrenia in CNV carriers. | Tansey KE et al. | β | 2016 | β |
| Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes. | Flannick J et al. | β | 2016 | β |
| Common Genetic Variants Found in HLA and KIR Immune Genes in Autism Spectrum Disorder. | Torres AR et al. | β | 2016 | β |
| Decreased risk of developing cancer in subjects carrying SLC52A3 rs13042395 polymorphism: proof from a meta-analysis. | Li J et al. | β | 2016 | β |
| Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease. | Zhou F et al. | β | 2016 | β |
| Development of a multifunctional envelope-type nano device and its application to nanomedicine. | Sato Y et al. | β | 2016 | β |
| Development of the Theta Comparative Cell Scoring Method to Quantify Diverse Phenotypic Responses Between Distinct Cell Types. | Warchal SJ et al. | β | 2016 | β |
| Diet, Nutrition, and Cancer Epigenetics. | Sapienza C et al. | β | 2016 | β |
| Diversity of mutations in the RET proto-oncogene and its oncogenic mechanism in medullary thyroid cancer. | Hedayati M et al. | β | 2016 | β |
| Early Components of the Complement Classical Activation Pathway in Human Systemic Autoimmune Diseases. | Lintner KE et al. | β | 2016 | β |
| Efficient Software for Multi-marker, Region-Based Analysis of GWAS Data. | Sanjak JS et al. | β | 2016 | β |
| Electrophysiological Endophenotypes for Schizophrenia. | Owens EM et al. | β | 2016 | β |
| Finding gastric cancer related genes and clinical biomarkers for detection based on gene-gene interaction network. | Wu X et al. | β | 2016 | β |
| Gene and Network Analysis of Common Variants Reveals Novel Associations in Multiple Complex Diseases. | Nakka P et al. | β | 2016 | β |
| Gene-gene and gene-sex epistatic interactions of DNMT1, DNMT3A and DNMT3B in autoimmune thyroid disease. | Cai TT et al. | β | 2016 | β |
| Genetic and family counselling for schizophrenia: Where do we stand now? | Roos JL | β | 2016 | β |
| Genetics of Substance Use Disorders. | Yu C et al. | β | 2016 | β |
| Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. | Brevik EJ et al. | β | 2016 | β |
| Genomic landscape of the Greater Middle East. | ΓzΓ§elik T et al. | β | 2016 | β |
| Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders. | Ishizuka K et al. | β | 2016 | β |
| JBASE: Joint Bayesian Analysis of Subphenotypes and Epistasis. | Colak R et al. | β | 2016 | β |
| Modulation of long noncoding RNAs by risk SNPs underlying genetic predispositions to prostate cancer. | Guo H et al. | β | 2016 | β |
| Parkinson-associated risk variant in distal enhancer of Ξ±-synuclein modulates target gene expression. | Soldner F et al. | β | 2016 | β |
| Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes. | Cereda M et al. | β | 2016 | β |
| PNPLA3 gene in liver diseases. | TrΓ©po E et al. | β | 2016 | β |
| Precision medicine for psychopharmacology: a general introduction. | Shin C et al. | β | 2016 | β |
| Quantitative magnetic resonance imaging traits as endophenotypes for genetic mapping in epilepsy. | Alhusaini S et al. | β | 2016 | β |
| Rare intronic variants of TCF7L2 arising by selective sweeps in an indigenous population from Mexico. | Acosta JL et al. | β | 2016 | β |
| Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus Level. | Jeng XJ et al. | β | 2016 | β |
| Rare Variation in TET2 Is Associated with Clinically Relevant Prostate Carcinoma in African Americans. | Koboldt DC et al. | β | 2016 | β |
| Signaling mechanisms of bortezomib in TRAF3-deficient mouse B lymphoma and human multiple myeloma cells. | Edwards SK et al. | β | 2016 | β |
| Strategies for Enriching Variant Coverage in Candidate Disease Loci on a Multiethnic Genotyping Array. | Bien SA et al. | β | 2016 | β |
| Survival of the Curviest: Noise-Driven Selection for Synergistic Epistasis. | Wilkins JF et al. | β | 2016 | β |
| Systems psychopharmacology: A network approach to developing novel therapies. | Gebicke-Haerter PJ | β | 2016 | β |
| The Adapting Mind in the Genomic Era. | Fieder M et al. | β | 2016 | β |
| The Decay of Disease Association with Declining Linkage Disequilibrium: A Fine Mapping Theorem. | Maadooliat M et al. | β | 2016 | β |
| The genetic architecture of type 2 diabetes. | Fuchsberger C et al. | β | 2016 | β |
| The genetic predisposition to bronchopulmonary dysplasia. | Yu KH et al. | β | 2016 | β |
| Type 2 diabetes: genetic data sharing to advance complex disease research. | Flannick J et al. | β | 2016 | β |
| Understanding Genetic Heterogeneity in Type 2 Diabetes by Delineating Physiological Phenotypes: SIRT1 and its Gene Network in Impaired Insulin Secretion. | Ali S et al. | β | 2016 | β |
| Using an Alzheimer Disease Polygenic Risk Score to Predict Memory Decline in Black and White Americans Over 14 Years of Follow-up. | Marden JR et al. | β | 2016 | β |
| Validating the pharmacogenomics of chemotherapy-induced cardiotoxicity: What is missing? | Magdy T et al. | β | 2016 | β |
| Whole Exome Sequencing Identifies Rare Protein-Coding Variants in BehΓ§et's Disease. | Ognenovski M et al. | β | 2016 | β |
| Whole-genome single nucleotide polymorphism-based linkage analysis in spondyloarthritis multiplex families reveals a new susceptibility locus in 13q13. | Costantino F et al. | β | 2016 | β |
| ACN9 and alcohol dependence: family-based association analysis in multiplex alcohol dependence families. | Hill SY et al. | β | 2015 | β |
| A common genetic variation of melanoma inhibitory activity-2 labels a subtype of pancreatic adenocarcinoma with high endoplasmic reticulum stress levels. | Kong B et al. | β | 2015 | β |
| A model to investigate SNPs' interaction in GWAS studies. | Cocchi E et al. | β | 2015 | β |
| Annotation of Sequence Variants in Cancer Samples: Processes and Pitfalls for Routine Assays in the Clinical Laboratory. | Lee LA et al. | β | 2015 | β |
| A replication study for association of 53 single nucleotide polymorphisms in ScoliScore test with adolescent idiopathic scoliosis in French-Canadian population. | Tang QL et al. | β | 2015 | β |
| A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing. | Wang Q et al. | β | 2015 | β |
| A single quantum dot-based biosensor for DNA point mutation assay. | Tang W et al. | β | 2015 | β |
| Assessing the Power of Exome Chips. | Page CM et al. | β | 2015 | β |
| Association of gene variants with susceptibility to type 2 diabetes among Omanis. | Al-Sinani S et al. | β | 2015 | β |
| Association of interleukin-1 gene variations with moderate to severe chronic periodontitis in multiple ethnicities. | Wu X et al. | β | 2015 | β |
| Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-KΓΌster-Hauser Syndrome in Chinese Han. | Ma W et al. | β | 2015 | β |
| Biomarkers for Hepatocellular Carcinoma (HCC): An Update. | Li D et al. | β | 2015 | β |
| Birth Cohort, Age, and Sex Strongly Modulate Effects of Lipid Risk Alleles Identified in Genome-Wide Association Studies. | Kulminski AM et al. | β | 2015 | β |
| Building capacity for human genetics and genomics research in Trinidad and Tobago. | Roach A et al. | β | 2015 | β |
| C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain. | Bykhovskaya Y et al. | β | 2015 | β |
| Cancer Bioinformatic Methods to Infer Meaningful Data From Small-Size Cohorts. | Bennani-Baiti N et al. | β | 2015 | β |
| CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases. | Apostolou P et al. | β | 2015 | β |
| Child psychiatry branch of the National Institute of Mental Health longitudinal structural magnetic resonance imaging study of human brain development. | Giedd JN et al. | β | 2015 | β |
| Clinical genetic research 2: Genetic epidemiology of complex phenotypes. | O'Rielly DD et al. | β | 2015 | β |
| Combinations of gene ontology and pathway characterize and predict prognosis genes for recurrence of gastric cancer after surgery. | Fan H et al. | β | 2015 | β |
| Common genetic variant on 14q13.3 contributes to thyroid cancer susceptibility: evidence based on 12 studies. | Zheng J et al. | β | 2015 | β |
| Common single nucleotide variants underlying drug addiction: more than a decade of research. | BΓΌhler KM 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 |
| Contrasting genetic architectures in different mouse reference populations used for studying complex traits. | Buchner DA et al. | β | 2015 | β |
| Copy number variation in schizophrenia. | Gulsuner S et al. | β | 2015 | β |
| Detection of genetic variation using dual-labeled peptide nucleic acid (PNA) probe-based melting point analysis. | Hur D et al. | β | 2015 | β |
| Evaluation of variant detection software for pooled next-generation sequence data. | Huang HW et al. | β | 2015 | β |
| Fine-scale human genetic structure in Western France. | Karakachoff M et al. | β | 2015 | β |
| Gene analysis techniques and susceptibility gene discovery inΒ non-BRCA1/BRCA2 familial breast cancer. | Aloraifi F et al. | β | 2015 | β |
| Genetic linkage analysis in the age of whole-genome sequencing. | Ott J et al. | β | 2015 | β |
| Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care. | Muller E et al. | β | 2015 | β |
| Genetics of type 2 diabetes-pitfalls and possibilities. | Prasad RB et al. | β | 2015 | β |
| Genetic Variation in Cardiomyopathy and Cardiovascular Disorders. | McNally EM et al. | β | 2015 | β |
| Genome-wide analysis of attention deficit hyperactivity disorder in Norway. | Zayats T et al. | β | 2015 | β |
| Genome-wide detection of intervals of genetic heterogeneity associated with complex traits. | Llinares-LΓ³pez F et al. | β | 2015 | β |
| Genomic perspectives of transcriptional regulation in forebrain development. | Nord AS et al. | β | 2015 | β |
| Genotype to phenotype relationships in autism spectrum disorders. | Chang J et al. | β | 2015 | β |
| Homogeneous case subgroups increase power in genetic association studies. | Traylor M et al. | β | 2015 | β |
| Increased co-expression of genes harboring the damaging de novo mutations in Chinese schizophrenic patients during prenatal development. | Wang Q et al. | β | 2015 | β |
| Interaction of Wnt pathway related variants with type 2 diabetes in a Chinese Han population. | Zhou JB et al. | β | 2015 | β |
| Interferon-Ξ» rs12979860 genotype and liver fibrosis in viral and non-viral chronic liver disease. | Eslam M et al. | β | 2015 | β |
| Meta-Analysis of Gene Expression in Autism Spectrum Disorder. | Ch'ng C et al. | β | 2015 | β |
| Modeling Kidney Disease with iPS Cells. | Freedman BS | β | 2015 | β |
| Multi-breed genome-wide association study reveals novel loci associated with the weight of internal organs. | He Y et al. | β | 2015 | β |
| Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease. | Dand N et al. | β | 2015 | β |
| Pathway analysis with next-generation sequencing data. | Zhao J et al. | β | 2015 | β |
| Predicting genome-wide DNA methylation using methylation marks, genomic position, and DNA regulatory elements. | Zhang W et al. | β | 2015 | β |
| Quantitative assessment of common genetic variations in HLA-DP with hepatitis B virus infection, clearance and hepatocellular carcinoma development. | Yu L et al. | β | 2015 | β |
| Rare variants in MYD88, IRAK4 and IKBKG and susceptibility to invasive pneumococcal disease: a population-based case-control study. | Ellis MK et al. | β | 2015 | β |
| Recessive mutations in the Ξ±3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. | Zech M et al. | β | 2015 | β |
| Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer. | Timofeeva MN et al. | β | 2015 | β |
| Regulatory Rewiring in a Cross Causes Extensive Genetic Heterogeneity. | Matsui T et al. | β | 2015 | β |
| Replication and Meta-Analysis of Common Gene Mutations in TTF1 and TTF2 with Papillary Thyroid Cancer. | Gao Y et al. | β | 2015 | β |
| Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor. | Unal Gulsuner H et al. | β | 2015 | β |
| Severe infectious diseases of childhood as monogenic inborn errors of immunity. | Casanova JL | β | 2015 | β |
| Sharing and Reuse of Sensitive Data and Samples: Supporting Researchers in Identifying Ethical and Legal Requirements. | Sariyar M et al. | β | 2015 | β |
| Solving the genetic puzzle of systemic lupus erythematosus. | Yang W et al. | β | 2015 | β |
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | β | 2015 | β |
| Study Designs for Exploring the Non-HLA Genetics in Celiac Disease. | Naluai Γ T | β | 2015 | β |
| The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism. | Guan X et al. | β | 2015 | β |
| The contribution of genomic research to explaining racial disparities in cardiovascular disease: a systematic review. | Kaufman JS et al. | β | 2015 | β |
| The Fourth Law of Behavior Genetics. | Chabris CF et al. | β | 2015 | β |
| The genetic architecture of autism spectrum disorders (ASDs) and the potential importance of common regulatory genetic variants. | Saffen D | β | 2015 | β |
| The origins, determinants, and consequences of human mutations. | Shendure J et al. | β | 2015 | β |
| Trade-offs in the effects of the apolipoprotein E polymorphism on risks of diseases of the heart, cancer, and neurodegenerative disorders: insights on mechanisms from the Long Life Family Study. | Kulminski AM et al. | β | 2015 | β |
| Unraveling heterogeneous susceptibility and the evolution of breast cancer using a systems biology approach. | Castellanos-MartΓn A et al. | β | 2015 | β |
| A blueprint for research on Shankopathies: a view from research on autism spectrum disorder. | Carbonetto S | β | 2014 | β |
| Age, gender, and cancer but not neurodegenerative and cardiovascular diseases strongly modulate systemic effect of the Apolipoprotein E4 allele on lifespan. | Kulminski AM et al. | β | 2014 | β |
| A generalized genetic random field method for the genetic association analysis of sequencing data. | Li M et al. | β | 2014 | β |
| Antioxidant defense enzyme genes and asthma susceptibility: gender-specific effects and heterogeneity in gene-gene interactions between pathogenetic variants of the disease. | Polonikov AV et al. | β | 2014 | β |
| A powerful association test of multiple genetic variants using a random-effects model. | Cheng KF et al. | β | 2014 | β |
| A preliminary study of the relationship between breast cancer metastasis and loss of heterozygosity by using exome sequencing. | Li H et al. | β | 2014 | β |
| A variational Bayes discrete mixture test for rare variant association. | Logsdon BA et al. | β | 2014 | β |
| Cancer genomic research at the crossroads: realizing the changing genetic landscape as intratumoral spatial and temporal heterogeneity becomes a confounding factor. | Li SC et al. | β | 2014 | β |
| Circadian rhythms and mood: opportunities for multi-level analyses in genomics and neuroscience: circadian rhythm dysregulation in mood disorders provides clues to the brain's organizing principles, and a touchstone for genomics and neuroscience. | Li JZ | β | 2014 | β |
| Common genetic variants on 1p13.2 associate with risk of autism. | Xia K et al. | β | 2014 | β |
| Common genetic variants on FOXE1 contributes to thyroid cancer susceptibility: evidence based on 16 studies. | Zhuang Y et al. | β | 2014 | β |
| Demography and the age of rare variants. | Mathieson I et al. | β | 2014 | β |
| Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences. | Bhatia S et al. | β | 2014 | β |
| Dissecting complex traits using the Drosophila Synthetic Population Resource. | Long AD et al. | β | 2014 | β |
| Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair. | Dal GM et al. | β | 2014 | β |
| Editorial: Illuminating the dark matter of developmental neuropsychiatric genetics - strategic focus for future research in child psychology and psychiatry. | Lesch KP | β | 2014 | β |
| Evidence for the importance of personalized molecular profiling in pancreatic cancer. | Lili LN et al. | β | 2014 | β |
| Exome sequencing from nanogram amounts of starting DNA: comparing three approaches. | Rykalina VN et al. | β | 2014 | β |
| Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study. | Xu S et al. | β | 2014 | β |
| Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. | Cukier HN et al. | β | 2014 | β |
| Exposome informatics: considerations for the design of future biomedical research information systems. | Martin Sanchez F et al. | β | 2014 | β |
| Gene-gene and gene-environment interactions in apolipoprotein L1 gene-associated nephropathy. | Freedman BI et al. | β | 2014 | β |
| Genes without prominence: a reappraisal of the foundations of biology. | Annila A et al. | β | 2014 | β |
| Genetic dissection of the Drosophila melanogaster female head transcriptome reveals widespread allelic heterogeneity. | King EG et al. | β | 2014 | β |
| Genetic perturbations that impair functional trait interactions lead to reduced bone strength and increased fragility in mice. | Smith LM et al. | β | 2014 | β |
| Genome-wide association studies of atopic dermatitis. | Tamari M et al. | β | 2014 | β |
| Genome-wide association study of Arabidopsis thaliana leaf microbial community. | Horton MW et al. | β | 2014 | β |
| Implications of population structure and ancestry on asthma genetic studies. | Ortega VE et al. | β | 2014 | β |
| Inherited polymorphisms in hyaluronan synthase 1 predict risk of systemic B-cell malignancies but not of breast cancer. | Kuppusamy H et al. | β | 2014 | β |
| Integrating genetics and social science: genetic risk scores. | Belsky DW et al. | β | 2014 | β |
| Interpreting human genetic variation with in vivo zebrafish assays. | Davis EE et al. | β | 2014 | β |
| Large-scale genomics unveils the genetic architecture of psychiatric disorders. | Gratten J et al. | β | 2014 | β |
| Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'. | Zhang X et al. | β | 2014 | β |
| Lipopeptide nanoparticles for potent and selective siRNA delivery in rodents and nonhuman primates. | Dong Y et al. | β | 2014 | β |
| Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network. | Keith BP et al. | β | 2014 | β |
| Longevity and plasticity of CFTR provide an argument for noncanonical SNP organization in hominid DNA. | Hill AE et al. | β | 2014 | β |
| Multifunctional enveloped nanodevices (MENDs). | Sato Y et al. | β | 2014 | β |
| New applications of disease genetics and pharmacogenetics to drug development. | Roses AD et al. | β | 2014 | β |
| Opportunity for selection in human health. | Govindaraju DR | β | 2014 | β |
| Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine. | Ortega VE et al. | β | 2014 | β |
| Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline. | Lee IH et al. | β | 2014 | β |
| Prognosis in autoimmune and infectious disease: new insights from genetics. | Lee JC et al. | β | 2014 | β |
| Prognostic significance of hMLH1/hMSH2 gene mutations and hMLH1 promoter methylation in sporadic colorectal cancer. | Wang Y et al. | β | 2014 | β |
| Protein sector analysis for the clustering of disease-associated mutations. | Guevara-Coto J et al. | β | 2014 | β |
| Quantitative assessment of common genetic variants on FOXE1 and differentiated thyroid cancer risk. | Zhu H et al. | β | 2014 | β |
| Radiogenomics: radiobiology enters the era of big data and team science. | Rosenstein BS et al. | β | 2014 | β |
| Radiogenomics: the search for genetic predictors of radiotherapy response. | Kerns SL et al. | β | 2014 | β |
| Randomness and preserved patterns in cancer network. | Rai A et al. | β | 2014 | β |
| Reduced selection and accumulation of deleterious mutations in genes exclusively expressed in men. | Gershoni M et al. | β | 2014 | β |
| Reducing INDEL calling errors in whole genome and exome sequencing data. | Fang H et al. | β | 2014 | β |
| Relationships between CETP genetic polymorphisms and Alzheimer's disease risk: a meta-analysis. | Chen JJ et al. | β | 2014 | β |
| Scalable combinatorial tools for health disparities research. | Langston MA et al. | β | 2014 | β |
| Stress, genomic adaptation, and the evolutionary trade-off. | Horne SD et al. | β | 2014 | β |
| The axis of progression of disease. | Tartakoff AM et al. | β | 2014 | β |
| The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level. | Arslan RC et al. | β | 2014 | β |
| "The race" to clone BRCA1. | King MC | β | 2014 | β |
| The role of FUS gene variants in neurodegenerative diseases. | Deng H et al. | β | 2014 | β |
| Utility of large consanguineous family-based model for investigating the genetics of type 2 diabetes mellitus. | Al-Sinani S et al. | β | 2014 | β |
| Whole-genome analyses of lung function, height and smoking. | Janss L et al. | β | 2014 | β |
| Whole-genome sequence variation, population structure and demographic history of the Dutch population. | Genome of the Netherlands Consortium | β | 2014 | β |
| A multiclass likelihood ratio approach for genetic risk prediction allowing for phenotypic heterogeneity. | Wen Y et al. | β | 2013 | β |
| An estimating function approach to linkage heterogeneity. | Gao H et al. | β | 2013 | β |
| An integer programming formulation of the parsimonious loss of heterozygosity problem. | Catanzaro D et al. | β | 2013 | β |
| Association between 5p12 genomic markers and breast cancer susceptibility: evidence from 19 case-control studies. | Wang X et al. | β | 2013 | β |
| BioGranat-IG: a network analysis tool to suggest mechanisms of genetic heterogeneity from exome-sequencing data. | Dand N et al. | β | 2013 | β |
| Bringing genome-wide association findings into clinical use. | Manolio TA | β | 2013 | β |
| Child development and molecular genetics: 14 years later. | Plomin R | β | 2013 | β |
| Control of renal calcium, phosphate, electrolyte, and water excretion by the calcium-sensing receptor. | Tyler Miller R | β | 2013 | β |
| Debunking 'race' and asserting social determinants as primary causes of cancer health disparities: outcomes of a science education activity for teens. | MΓ‘rquez-MagaΓ±a L et al. | β | 2013 | β |
| Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians. | Ma K | β | 2013 | β |
| Evaluating empirical bounds on complex disease genetic architecture. | Agarwala V et al. | β | 2013 | β |
| Evaluation of allele frequency estimation using pooled sequencing data simulation. | Guo Y et al. | β | 2013 | β |
| Exome sequencing identifies novel rheumatoid arthritis-susceptible variants in the BTNL2. | Mitsunaga S et al. | β | 2013 | β |
| Familial cosegregation of rare genetic variants with disease in complex disorders. | Helbig I et al. | β | 2013 | β |
| Genetic architecture of quantitative traits and complex diseases. | Fu W et al. | β | 2013 | β |
| Genetics. Herit-ability. | Flint J et al. | β | 2013 | β |
| Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation. | Rinella ES et al. | β | 2013 | β |
| Genomics of human health and aging. | Kulminski AM et al. | β | 2013 | β |
| Germline RAD51C mutations in ovarian cancer susceptibility. | Coulet F et al. | β | 2013 | β |
| Heterogeneity of schizophrenia: Genetic and symptomatic factors. | Takahashi S | β | 2013 | β |
| Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway. | Lee JC et al. | β | 2013 | β |
| Hunting human disease genes: lessons from the past, challenges for the future. | Brunham LR et al. | β | 2013 | β |
| Identifying population differences in genes that affect body mass index. | Williams SM | β | 2013 | β |
| Network analysis of GWAS data. | Leiserson MD et al. | β | 2013 | β |
| Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL. | Kim DS et al. | β | 2013 | β |
| Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population. | Hu F et al. | β | 2013 | β |
| Osteoarthritis year 2013 in review: genetics and genomics. | Gonzalez A | β | 2013 | β |
| Parallel tagged next-generation sequencing on pooled samples - a new approach for population genetics in ecology and conservation. | Zavodna M et al. | β | 2013 | β |
| Pathway analysis using genome-wide association study data for coronary restenosis--a potential role for the PARVB gene. | Verschuren JJ et al. | β | 2013 | β |
| Pathway analysis using information from allele-specific gene methylation in genome-wide association studies for bipolar disorder. | Chuang LC et al. | β | 2013 | β |
| Pathway-based analysis of genomic variation data. | Atias N et al. | β | 2013 | β |
| Pathway-based genetic analysis of preterm birth. | Uzun A et al. | β | 2013 | β |
| Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome. | Campbell MG et al. | β | 2013 | β |
| Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect. | Gazave E et al. | β | 2013 | β |
| Practice parameter for cultural competence in child and adolescent psychiatric practice. | Pumariega AJ et al. | β | 2013 | β |
| Practice parameter for the assessment and treatment of children and adolescents with schizophrenia. | McClellan J 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 |
| Rare variants in hypermutable genes underlie common morphology and growth traits in wild Saccharomyces paradoxus. | Roop JI et al. | β | 2013 | β |
| Recombinant structures expand and contract inter and intragenic diversification at the KIR locus. | Pyo CW et al. | β | 2013 | β |
| Reliable identification of genomic variants from RNA-seq data. | Piskol R et al. | β | 2013 | β |
| Segregation of a latent high adiposity phenotype in families with a history of type 2 diabetes mellitus implicates rare obesity-susceptibility genetic variants with large effects in diabetes-related obesity. | Jenkins AB et al. | β | 2013 | β |
| Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. | Gulsuner S et al. | β | 2013 | β |
| Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus. | Patel CJ et al. | β | 2013 | β |
| Systems genetics in "-omics" era: current and future development. | Li H | β | 2013 | β |
| TATES: efficient multivariate genotype-phenotype analysis for genome-wide association studies. | van der Sluis S et al. | β | 2013 | β |
| The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors. | Dougherty JD et al. | β | 2013 | β |
| The essential detail: the genetics and genomics of the primate immune response. | Shen S et al. | β | 2013 | β |
| The evolutionary paradox and the missing heritability of schizophrenia. | van Dongen J et al. | β | 2013 | β |
| The genetics of Autism Spectrum Disorders--a guide for clinicians. | Heil KM et al. | β | 2013 | β |
| The MyD88 rs6853 and TIRAP rs8177374 polymorphic sites are associated with resistance to human pulmonary tuberculosis. | Capparelli R et al. | β | 2013 | β |
| The relationship between five widely-evaluated variants in CDKN2A/B and CDKAL1 genes and the risk of type 2 diabetes: a meta-analysis. | Peng F et al. | β | 2013 | β |
| Transcriptional profiling of mouse uterus at pre-implantation stage under VEGF repression. | Ji Y et al. | β | 2013 | β |
| Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance. | He H et al. | β | 2013 | β |
| Unraveling genetic origin of aging-related traits: evolving concepts. | Kulminski AM | β | 2013 | β |
| Unraveling genomic variation from next generation sequencing data. | Pavlopoulos GA et al. | β | 2013 | β |
| Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits. | Zaitlen N et al. | β | 2013 | β |
| Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes. | Lohmueller KE et al. | β | 2013 | β |
| Activating killer-cell immunoglobulin-like receptors (KIR) and their cognate HLA ligands are significantly increased in autism. | Torres AR et al. | β | 2012 | β |
| A gene-free formulation of classical quantitative genetics used to examine results and interpretations under three standard assumptions. | Taylor PJ | β | 2012 | β |
| Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. | Nava C et al. | β | 2012 | β |
| Analyzing heterogeneous complexity in complementary and alternative medicine research: a systems biology solution via parsimony phylogenetics. | Abu-Asab M et al. | β | 2012 | β |
| An autism-associated variant of Epac2 reveals a role for Ras/Epac2 signaling in controlling basal dendrite maintenance in mice. | Srivastava DP et al. | β | 2012 | β |
| A novel algorithm for simultaneous SNP selection in high-dimensional genome-wide association studies. | Zuber V et al. | β | 2012 | β |
| A novel genome-information content-based statistic for genome-wide association analysis designed for next-generation sequencing data. | Luo L et al. | β | 2012 | β |
| Association analysis of 94 candidate genes and schizophrenia-related endophenotypes. | Greenwood TA et al. | β | 2012 | β |
| Association of ALOX12 and ALOX15 gene polymorphisms with age at menarche and natural menopause in Chinese women. | Xiao W et al. | β | 2012 | β |
| Association of interleukin-6 circulating levels with coronary artery disease: a meta-analysis implementing mendelian randomization approach. | Niu W et al. | β | 2012 | β |
| Avoiding mouse traps in schizophrenia genetics: lessons and promises from current and emerging mouse models. | Kvajo M et al. | β | 2012 | β |
| Behavior genetics and postgenomics. | Charney E | β | 2012 | β |
| Breast cancer risk-associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression. | Cowper-Sal lari R et al. | β | 2012 | β |
| Candidate pathway based analysis for cleft lip with or without cleft palate. | Zhang TX et al. | β | 2012 | β |
| CNVs: harbingers of a rare variant revolution in psychiatric genetics. | Malhotra D et al. | β | 2012 | β |
| Current understanding of human genetics and genetic analysis of psoriasis. | Oka A et al. | β | 2012 | β |
| dbPTB: a database for preterm birth. | Uzun A et al. | β | 2012 | β |
| DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism. | Aguiar D et al. | β | 2012 | β |
| De novo mutations in human genetic disease. | Veltman JA et al. | β | 2012 | β |
| Disease gene identification strategies for exome sequencing. | Gilissen C et al. | β | 2012 | β |
| DNMT3A rs36012910 A>G polymorphism and gastric cancer susceptibility in a Chinese population. | Wu Q et al. | β | 2012 | β |
| Efficiency and power as a function of sequence coverage, SNP array density, and imputation. | Flannick J et al. | β | 2012 | β |
| Epistasis and immunity: the role of genetic interactions in autoimmune diseases. | Rose AM et al. | β | 2012 | β |
| Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. | Lee SH et al. | β | 2012 | β |
| Evolution and functional impact of rare coding variation from deep sequencing of human exomes. | Tennessen JA et al. | β | 2012 | β |
| Evolutionary meta-analysis of association studies reveals ancient constraints affecting disease marker discovery. | Dudley JT et al. | β | 2012 | β |
| Evolution, revolution and heresy in the genetics of infectious disease susceptibility. | Hill AV | β | 2012 | β |
| Five years of GWAS discovery. | Visscher PM et al. | β | 2012 | β |
| Genetics of human cardiovascular disease. | Kathiresan S et al. | β | 2012 | β |
| Genetics of leukocyte telomere length and its role in atherosclerosis. | Aviv A | β | 2012 | β |
| Genetics of osteoporosis from genome-wide association studies: advances and challenges. | Richards JB et al. | β | 2012 | β |
| Genome-wide association of mood-incongruent psychotic bipolar disorder. | Goes FS et al. | β | 2012 | β |
| Genome-wide association studies with metabolomics. | Adamski J | β | 2012 | β |
| Hereditary ovarian cancer: beyond the usual suspects. | Pennington KP et al. | β | 2012 | β |
| Heuristic methods for finding pathogenic variants in gene coding sequences. | Ohanian M et al. | β | 2012 | β |
| HLA Immune Function Genes in Autism. | Torres AR et al. | β | 2012 | β |
| Human genetic susceptibility to infectious disease. | Chapman SJ et al. | β | 2012 | β |
| Identification of rare variants from exome sequence in a large pedigree with autism. | Marchani EE et al. | β | 2012 | β |
| Inferences from genomic models in stratified populations. | Janss L et al. | β | 2012 | β |
| Insights into the genetic architecture of diabetic nephropathy. | Palmer ND et al. | β | 2012 | β |
| Integrative approaches for microarray data analysis. | Waldron L et al. | β | 2012 | β |
| Mechanisms of age-related macular degeneration. | Ambati J et al. | β | 2012 | β |
| Mice lacking a Myc enhancer that includes human SNP rs6983267 are resistant to intestinal tumors. | Sur IK et al. | β | 2012 | β |
| Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family. | Peter B et al. | β | 2012 | β |
| Multiple sclerosis. | Nylander A et al. | β | 2012 | β |
| [New generation sequencing in medical genetics]. | Stoppa-Lyonnet D et al. | β | 2012 | β |
| Pairwise shared genomic segment analysis in three Utah high-risk breast cancer pedigrees. | Cai Z et al. | β | 2012 | β |
| Pathogenesis of multiple sclerosis via environmental and genetic dysregulation of N-glycosylation. | Grigorian A et al. | β | 2012 | β |
| Reconsidering association testing methods using single-variant test statistics as alternatives to pooling tests for sequence data with rare variants. | Kinnamon DD et al. | β | 2012 | β |
| Revising the M235T polymorphism position for the AGT gene and reporting a modifying variant in the Brazilian population with potential cardiac and neural impact. | Lemos RR et al. | β | 2012 | β |
| Schizophrenia: do all roads lead to dopamine or is this where they start? Evidence from two epidemiologically informed developmental rodent models. | Eyles D et al. | β | 2012 | β |
| Serotonergic transcriptional networks and potential importance to mental health. | Deneris ES et al. | β | 2012 | β |
| Serotonin in the modulation of neural plasticity and networks: implications for neurodevelopmental disorders. | Lesch KP et al. | β | 2012 | β |
| Simultaneous SNP identification and assessment of allele-specific bias from ChIP-seq data. | Ni Y et al. | β | 2012 | β |
| Strong association between two polymorphisms on 15q25.1 and lung cancer risk: a meta-analysis. | Gu M et al. | β | 2012 | β |
| Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. | Tran-Viet KN et al. | β | 2012 | β |
| Surrogate genetics and metabolic profiling for characterization of human disease alleles. | Mayfield JA et al. | β | 2012 | β |
| The bishop and the actress. | Jobling MA | β | 2012 | β |
| The genetic architecture of schizophrenia: new mutations and emerging paradigms. | Rodriguez-Murillo L et al. | β | 2012 | β |
| The genetics of Alzheimer's disease. | Bertram L et al. | β | 2012 | β |
| The hunt for gene effects pertinent to behavioral traits and psychiatric disorders: from mouse to human. | Wahlsten D | β | 2012 | β |
| The mystery of missing heritability: Genetic interactions create phantom heritability. | Zuk O et al. | β | 2012 | β |
| The role of large pedigrees in an era of high-throughput sequencing. | Wijsman EM | β | 2012 | β |
| Turkish population structure and genetic ancestry reveal relatedness among Eurasian populations. | HodoΔlugil U et al. | β | 2012 | β |
| What is complex about complex disorders? | Mitchell KJ | β | 2012 | β |
| Whole-exome sequencing of a pedigree segregating asthma. | DeWan AT et al. | β | 2012 | β |
| Zebrafish as a genomics model for human neurological and polygenic disorders. | Becker TS et al. | β | 2012 | β |
| A brain region-specific predictive gene map for autism derived by profiling a reference gene set. | Kumar A et al. | β | 2011 | β |
| A comprehensively molecular haplotype-resolved genome of a European individual. | Suk EK et al. | β | 2011 | β |
| After GWAS: searching for genetic risk for schizophrenia and bipolar disorder. | Gershon ES et al. | β | 2011 | β |
| A genome-wide comparison of the functional properties of rare and common genetic variants in humans. | Zhu Q et al. | β | 2011 | β |
| Alzheimer's genetics in the GWAS era: a continuing story of 'replications and refutations'. | Bertram L | β | 2011 | β |
| A multigenerational family study of oral and hand motor sequencing ability provides evidence for a familial speech sound disorder subtype. | Peter B et al. | β | 2011 | β |
| An aggregating U-Test for a genetic association study of quantitative traits. | Li M et al. | β | 2011 | β |
| Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia. | Greenwood TA et al. | β | 2011 | β |
| An Interdisciplinary Approach to Studying Gene-Environment Interactions: From Twin Studies to Gene Identification and Back. | Dick DM | β | 2011 | β |
| Association genetics of complex traits in plants. | Ingvarsson PK et al. | β | 2011 | β |
| Autism candidate genes via mouse phenomics. | Meehan TF et al. | β | 2011 | β |
| Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies. | Greenberg DA et al. | β | 2011 | β |
| Cancer evolution and individual susceptibility. | PΓ©rez-Losada J et al. | β | 2011 | β |
| Celiac disease: moving from genetic associations to causal variants. | Hrdlickova B et al. | β | 2011 | β |
| Clinical presentations and molecular basis of complement C1r deficiency in a male African-American patient with systemic lupus erythematosus. | Wu YL et al. | β | 2011 | β |
| Decision tree-based modeling of androgen pathway genes and prostate cancer risk. | Barnholtz-Sloan JS et al. | β | 2011 | β |
| Decoding the genome beyond sequencing: the new phase of genomic research. | Heng HH et al. | β | 2011 | β |
| Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis. | Yazbek SN et al. | β | 2011 | β |
| Dendritic spine pathology in neuropsychiatric disorders. | Penzes P et al. | β | 2011 | β |
| Design considerations for massively parallel sequencing studies of complex human disease. | Feng BJ et al. | β | 2011 | β |
| Different differences: the use of 'genetic ancestry' versus race in biomedical human genetic research. | Fujimura JH et al. | β | 2011 | β |
| Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis. | Niranjan TS et al. | β | 2011 | β |
| Estimation and visualization of identity-by-descent within pedigrees simplifies interpretation of complex trait analysis. | Marchani EE et al. | β | 2011 | β |
| Exome sequencing and the genetics of intellectual disability. | Topper S et al. | β | 2011 | β |
| Exome sequencing as a tool for Mendelian disease gene discovery. | Bamshad MJ et al. | β | 2011 | β |
| Expression of trypanotolerance in N'Dama x Boran crosses under field challenge in relation to N'Dama genome content. | Orenge C et al. | β | 2011 | β |
| Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals. | Ju YS et al. | β | 2011 | β |
| Following the genes: a framework for animal modeling of psychiatric disorders. | Mitchell KJ et al. | β | 2011 | β |
| Functional genomics applied to cardiovascular medicine. | Cappola TP et al. | β | 2011 | β |
| Gating in schizophrenia: from genes to cognition (to real world function?). | Braff DL | β | 2011 | β |
| Gene-environment interaction in psychological traits and disorders. | Dick DM | β | 2011 | β |
| Genetic basis of autism: is there a way forward? | Eapen V | β | 2011 | β |
| Genetic epidemiology of hip and knee osteoarthritis. | Valdes AM et al. | β | 2011 | β |
| Genetic regulation of Nrxn1 [corrected] expression: an integrative cross-species analysis of schizophrenia candidate genes. | Mozhui K et al. | β | 2011 | β |
| Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis. | Mkhikian H et al. | β | 2011 | β |
| Genetics coupled to quantitative intact proteomics links heritable aphid and endosymbiont protein expression to circulative polerovirus transmission. | Cilia M et al. | β | 2011 | β |
| Genome partitioning of genetic variation for complex traits using common SNPs. | Yang J et al. | β | 2011 | β |
| GENOME-WIDE ASSOCIATION MAPPING AND RARE ALLELES: FROM POPULATION GENOMICS TO PERSONALIZED MEDICINE - Session Introduction. | DE LA Vega FM et al. | β | 2011 | β |
| Genome-wide association studies of asthma. | Tamari M et al. | β | 2011 | β |
| Genome-wide association studies: results from the first few years and potential implications for clinical medicine. | Hirschhorn JN et al. | β | 2011 | β |
| Genomics for the world. | Bustamante CD et al. | β | 2011 | β |
| Growth of genome screening needs debate. | Goldstein DB | β | 2011 | β |
| Haplotype analysis improved evidence for candidate genes for intramuscular fat percentage from a genome wide association study of cattle. | Barendse W | β | 2011 | β |
| Incorporating genetics into your studies: a guide for social scientists. | Dick DM et al. | β | 2011 | β |
| International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. | Peixoto A et al. | β | 2011 | β |
| Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks. | Turner SD et al. | β | 2011 | β |
| Layers of epistasis: genome-wide regulatory networks and network approaches to genome-wide association studies. | Cowper-Sal lari R et al. | β | 2011 | β |
| Lupus: how much "complexity" is really (just) genetic heterogeneity? | Crow YJ | β | 2011 | β |
| Meta-analysis and genome-wide interpretation of genetic susceptibility to drug addiction. | Li CY et al. | β | 2011 | β |
| Mind the dbGAP: the application of data mining to identify biological mechanisms. | Wooten EC et al. | β | 2011 | β |
| Minireview: the busy road to pheochromocytomas and paragangliomas has a new member, TMEM127. | Jiang S et al. | β | 2011 | β |
| Multi-ethnic studies in complex traits. | Fu J et al. | β | 2011 | β |
| Multivariate analysis of regulatory SNPs: empowering personal genomics by considering cis-epistasis and heterogeneity. | Turner SD et al. | β | 2011 | β |
| Neurobiology of attention deficit/hyperactivity disorder. | Purper-Ouakil D et al. | β | 2011 | β |
| Of 508 mice and 40,000 humans. | Dina C | β | 2011 | β |
| Pentapeptide sharing between Corynebacterium diphtheria toxin and the human neural protein network. | Bavaro SL et al. | β | 2011 | β |
| Podocyte-specific deletion of Myh9 encoding nonmuscle myosin heavy chain 2A predisposes mice to glomerulopathy. | Johnstone DB et al. | β | 2011 | β |
| Polygenic inheritance of sensorineural hearing loss (Snhl2, -3, and -4) and organ of Corti patterning defect in the ALR/LtJ mouse strain. | Latoche JR et al. | β | 2011 | β |
| Polymorphic regions affecting human height also control stature in cattle. | Pryce JE et al. | β | 2011 | β |
| Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D et al. | β | 2011 | β |
| Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. | Gilman SR et al. | β | 2011 | β |
| Rare nonsynonymous variants in alpha-4 nicotinic acetylcholine receptor gene protect against nicotine dependence. | Xie P et al. | β | 2011 | β |
| Schizophrenia, "Just the Facts" 6. Moving ahead with the schizophrenia concept: from the elephant to the mouse. | Keshavan MS et al. | β | 2011 | β |
| Schizophrenia: susceptibility genes, dendritic-spine pathology and gray matter loss. | Bennett MR | β | 2011 | β |
| Somatic mosaicism in healthy human tissues. | De S | β | 2011 | β |
| Somatic mutation and germline sequence abnormalities in CDKN1B, encoding p27Kip1, in sporadic parathyroid adenomas. | Costa-Guda J et al. | β | 2011 | β |
| Statistical Optimization of Pharmacogenomics Association Studies: Key Considerations from Study Design to Analysis. | Grady BJ et al. | β | 2011 | β |
| [Systematic review of the Genomewide Association Studies (GWAS) in schizophrenia]. | Valiente A et al. | β | 2011 | β |
| The future of model organisms in human disease research. | Aitman TJ et al. | β | 2011 | β |
| The genetics of common kidney disease: a pathway toward clinical relevance. | Drawz PE et al. | β | 2011 | β |
| The genetics of pemphigus. | Sinha AA | β | 2011 | β |
| The genomic architecture of sporadic heart failure. | Dorn GW | β | 2011 | β |
| Tissue-specific gene expression templates for accurate molecular characterization of the normal physiological states of multiple human tissues with implication in development and cancer studies. | Hwang PI et al. | β | 2011 | β |
| Uncover disease genes by maximizing information flow in the phenome-interactome network. | Chen Y et al. | β | 2011 | β |
| Unlocking Mendelian disease using exome sequencing. | Gilissen C et al. | β | 2011 | β |
| Using bioinformatics to predict the functional impact of SNVs. | Cline MS et al. | β | 2011 | β |
| Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome. | Schulte EC et al. | β | 2011 | β |
| Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder. | Wang J et al. | β | 2011 | β |
| Viruses, autophagy genes, and Crohn's disease. | Hubbard VM et al. | β | 2011 | β |
| BOOST: A fast approach to detecting gene-gene interactions in genome-wide case-control studies. | Wan X et al. | β | 2010 | β |
| Building genetic scores to predict risk of complex diseases in humans: is it possible? | Liu S et al. | β | 2010 | β |
| Collaborative genomics for human health and cooperation in the Mediterranean region. | OzΓ§elik T et al. | β | 2010 | β |
| Deciphering genetic disease in the genomic era: the model of GnRH deficiency. | Sykiotis GP et al. | β | 2010 | β |
| Diamonds in the rough: rare variants scratch the surface. | Podolak E | β | 2010 | β |
| Disease-associated alleles in genome-wide association studies are enriched for derived low frequency alleles relative to HapMap and neutral expectations. | Lachance J | β | 2010 | β |
| Domain altering SNPs in the human proteome and their impact on signaling pathways. | Liu Y et al. | β | 2010 | β |
| Genetic basis for susceptibility to lung cancer: Recent progress and future directions. | Yokota J et al. | β | 2010 | β |
| Genome-wide association studies and large-scale collaborations in epidemiology. | Psaty BM et al. | β | 2010 | β |
| Genome-wide association studies will unlock the genetic basis of hypertension.: con side of the argument. | Kurtz TW | β | 2010 | β |
| Grand challenges in psychosomatic research. | Jindal RD et al. | β | 2010 | β |
| Missing heritability and stochastic genome alterations. | Heng HH | β | 2010 | β |
| Neural plasticity, human genetics, and risk for alcohol dependence. | Hill SY | β | 2010 | β |
| Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. | Sykiotis GP et al. | β | 2010 | β |
| Redefining disease. | Bell J | β | 2010 | β |
| Rethinking schizophrenia. | Insel TR | β | 2010 | β |
| SeqAnt: a web service to rapidly identify and annotate DNA sequence variations. | Shetty AC et al. | β | 2010 | β |
| SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution. | Loe-Mie Y et al. | β | 2010 | β |
| Statistical analysis strategies for association studies involving rare variants. | Bansal V et al. | β | 2010 | β |
| Strategies for genetic studies of complex diseases. | Wang K et al. | β | 2010 | β |
| Structural MRI of pediatric brain development: what have we learned and where are we going? | Giedd JN et al. | β | 2010 | β |
| Successes of genome-wide association studies. | Klein RJ et al. | β | 2010 | β |
| The 2nd Schizophrenia International Research Society Conference, 10-14 April 2010, Florence, Italy: summaries of oral sessions. | Baharnoori M et al. | β | 2010 | β |
| The genetics of Alzheimer disease: back to the future. | Bertram L et al. | β | 2010 | β |
| The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. | State MW | β | 2010 | β |
| The necessity of animal models in pain research. | Mogil JS et al. | β | 2010 | β |
| The 'omics' of cancer. | Geurts van Kessel A | β | 2010 | β |
| The serotonin transporter gene length polymorphism (5-HTTLPR) and life events: no evidence for an interaction effect on neuroticism and anxious depressive symptoms. | Middeldorp CM et al. | β | 2010 | β |
| Trib1 is a lipid- and myocardial infarction-associated gene that regulates hepatic lipogenesis and VLDL production in mice. | Burkhardt R et al. | β | 2010 | β |