| # | Title | Journal | Year | Citations |
|---|
| 1 | PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses | American Journal of Human Genetics | 2007 | 26,761 |
| 2 | A New Statistical Method for Haplotype Reconstruction from Population Data | American Journal of Human Genetics | 2001 | 6,952 |
| 3 | GCTA: A Tool for Genome-wide Complex Trait Analysis | American Journal of Human Genetics | 2011 | 6,212 |
| 4 | Construction of a genetic linkage map in man using restriction fragment length polymorphisms | American Journal of Human Genetics | 1980 | 5,146 |
| 5 | A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data | American Journal of Human Genetics | 2003 | 3,291 |
| 6 | Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies | American Journal of Human Genetics | 2003 | 3,105 |
| 7 | Multipoint Quantitative-Trait Linkage Analysis in General Pedigrees | American Journal of Human Genetics | 1998 | 2,887 |
| 8 | Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering | American Journal of Human Genetics | 2007 | 2,845 |
| 9 | 10 Years of GWAS Discovery: Biology, Function, and Translation | American Journal of Human Genetics | 2017 | 2,793 |
| 10 | Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM) | American Journal of Human Genetics | 1993 | 2,787 |
| 11 | Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families | American Journal of Human Genetics | 1998 | 2,662 |
| 12 | Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies | American Journal of Human Genetics | 2010 | 2,325 |
| 13 | Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction | American Journal of Human Genetics | 1989 | 2,299 |
| 14 | Parametric and nonparametric linkage analysis: a unified multipoint approach | American Journal of Human Genetics | 1996 | 2,255 |
| 15 | Five Years of GWAS Discovery | American Journal of Human Genetics | 2012 | 2,088 |
| 16 | Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test | American Journal of Human Genetics | 2011 | 2,060 |
| 17 | Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? | American Journal of Human Genetics | 1962 | 1,943 |
| 18 | PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis | American Journal of Human Genetics | 1998 | 1,923 |
| 19 | Association Mapping in Structured Populations | American Journal of Human Genetics | 2000 | 1,827 |
| 20 | A Fast and Flexible Statistical Model for Large-Scale Population Genotype Data: Applications to Inferring Missing Genotypes and Haplotypic Phase | American Journal of Human Genetics | 2006 | 1,748 |
| 21 | Multifactor-Dimensionality Reduction Reveals High-Order Interactions among Estrogen-Metabolism Genes in Sporadic Breast Cancer | American Journal of Human Genetics | 2001 | 1,745 |
| 22 | Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous | American Journal of Human Genetics | 2002 | 1,656 |
| 23 | Structural Variation of Chromosomes in Autism Spectrum Disorder | American Journal of Human Genetics | 2008 | 1,641 |
| 24 | DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources | American Journal of Human Genetics | 2009 | 1,614 |
| 25 | REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants | American Journal of Human Genetics | 2016 | 1,555 |
| 26 | Neuregulin 1 and Susceptibility to Schizophrenia | American Journal of Human Genetics | 2002 | 1,550 |
| 27 | A Simple Correction for Multiple Testing for Single-Nucleotide Polymorphisms in Linkage Disequilibrium with Each Other | American Journal of Human Genetics | 2004 | 1,523 |
| 28 | Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis | American Journal of Human Genetics | 1998 | 1,512 |
| 29 | Functional Analysis of Genetic Variation in Catechol-O-Methyltransferase (COMT): Effects on mRNA, Protein, and Enzyme Activity in Postmortem Human Brain | American Journal of Human Genetics | 2004 | 1,495 |
| 30 | Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium | American Journal of Human Genetics | 2004 | 1,469 |
| 31 | Phylogenetic analysis. Models and estimation procedures | American Journal of Human Genetics | 1967 | 1,466 |
| 32 | A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals | American Journal of Human Genetics | 2009 | 1,441 |
| 33 | A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects? | American Journal of Human Genetics | 1998 | 1,413 |
| 34 | Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data | American Journal of Human Genetics | 2008 | 1,382 |
| 35 | Are Rare Variants Responsible for Susceptibility to Complex Diseases? | American Journal of Human Genetics | 2001 | 1,336 |
| 36 | A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis | American Journal of Human Genetics | 2004 | 1,313 |
| 37 | Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation | American Journal of Human Genetics | 1992 | 1,290 |
| 38 | A Note on Exact Tests of Hardy-Weinberg Equilibrium | American Journal of Human Genetics | 2005 | 1,232 |
| 39 | Accounting for Decay of Linkage Disequilibrium in Haplotype Inference and Missing-Data Imputation | American Journal of Human Genetics | 2005 | 1,230 |
| 40 | A Mutation in the LDL Receptor–Related Protein 5 Gene Results in the Autosomal Dominant High–Bone-Mass Trait | American Journal of Human Genetics | 2002 | 1,196 |
| 41 | A One-Penny Imputed Genome from Next-Generation Reference Panels | American Journal of Human Genetics | 2018 | 1,168 |
| 42 | Linkage Disequilibrium in Humans: Models and Data | American Journal of Human Genetics | 2001 | 1,166 |
| 43 | Easy calculations of lod scores and genetic risks on small computers | American Journal of Human Genetics | 1984 | 1,160 |
| 44 | A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene | American Journal of Human Genetics | 1989 | 1,145 |
| 45 | Sequential tests for the detection of linkage | American Journal of Human Genetics | 1955 | 1,136 |
| 46 | Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations | American Journal of Human Genetics | 2017 | 1,120 |
| 47 | Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies | American Journal of Human Genetics | 1999 | 1,112 |
| 48 | De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy | American Journal of Human Genetics | 2001 | 1,111 |
| 49 | Walking the Interactome for Prioritization of Candidate Disease Genes | American Journal of Human Genetics | 2008 | 1,111 |
| 50 | Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores | American Journal of Human Genetics | 2015 | 1,098 |
