Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

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An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

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Rare and low-frequency coding variants alter human adult height

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Meta-analysis methods for genome-wide association studies and beyond

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Identifying Causal Variants at Loci with Multiple Signals of Association

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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

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Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

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Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

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Exome sequencing and the genetic basis of complex traits

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Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

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Testing in Microbiome-Profiling Studies with MiRKAT, the Microbiome Regression-Based Kernel Association Test

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Coding variants in TREM2 increase risk for Alzheimer's disease

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Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

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Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

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Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification

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Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

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Global Genetic Networks and the Genotype-to-Phenotype Relationship

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Pharmacogenetics: Implications of race and ethnicity on defining genetic profiles for personalized medicine

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Coding mutations in SORL1 and Alzheimer disease

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Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

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Statistical methods to detect pleiotropy in human complex traits

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Single-cell genomics meets human genetics

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Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

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Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

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Whole-genome sequence-based analysis of thyroid function

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Estimating genome-wide significance for whole-genome sequencing studies

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Genetic variants associated with longer telomere length are associated with increased lung cancer risk among never‐smoking women in Asia: a report from the female lung cancer consortium in Asia

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Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis

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Rare TREM2 variants associated with Alzheimer’s disease display reduced cell surface expression

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Large-Scale Phenome-Wide Association Study of PCSK9 Variants Demonstrates Protection Against Ischemic Stroke

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Phenotypic extremes in rare variant study designs

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Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets

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Oxytocin receptor gene variations predict neural and behavioral response to oxytocin in autism

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Longitudinal analysis is more powerful than cross-sectional analysis in detecting genetic association with neuroimaging phenotypes

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Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

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mtDNA mutations in human aging and longevity: controversies and new perspectives opened by high-throughput technologies

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Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

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More powerful genetic association testing via a new statistical framework for integrative genomics

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The Influence of Rare Genetic Variation in SLC30A8 on Diabetes Incidence and β-Cell Function

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Genetic variation in FAAH is associated with cannabis use disorders in a young adult sample of Mexican Americans.

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Identifying therapeutic drug targets using bidirectional effect genes

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Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability

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Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level

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A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia

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Variation in maturity-onset diabetes of the young genes influence response to interventions for diabetes prevention

Billings, L. K., Jablonski, K. A., Warner, A. S., Cheng, Y.-C., McAteer, J. B., Tipton, L., Shuldiner, A. R., Ehrmann, D. A., Manning, A. K., Dabelea, D., et al. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-3429 · Cited by 20

Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease

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Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility

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A comparison of principal component methods between multiple phenotype regression and multiple SNP regression in genetic association studies

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Distance-based analysis of variance for brain connectivity

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Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

van de Putte, R., Wijers, C. H. W., Reutter, H., Vermeulen, S. H., Marcelis, C. L. M., Brosens, E., Broens, P. M. A., Homberg, M., Ludwig, M., Jenetzky, E., et al. (2019) · PLOS ONE · doi:10.1371/journal.pone.0217477 · Cited by 6

Integrative analysis of taste genetics and the dental plaque microbiome in early childhood caries

Khan, M. W., Cruz de Jesus, V., Mittermuller, B.-A., Schroth, R. J., Hu, P., & Chelikani, P. (2025) · Cell Reports · doi:10.1016/j.celrep.2025.116245 · Cited by 7

A dual-level sparsity Bayesian framework for rare-variant association analysis using integrated nested laplace approximation

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3Dmapper: a command line tool for BioBank-scale mapping of variants to protein structures

Ruiz-Serra, V., Valentini, S., Madroñero, S., Valencia, A., & Porta-Pardo, E. (2024) · Bioinformatics · doi:10.1093/bioinformatics/btae171