The American Journal of Human Genetics

Title Publication Date Language Citations
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses2007/09/01English21,361
A New Statistical Method for Haplotype Reconstruction from Population Data2001/04/01English5,846
GCTA: A Tool for Genome-wide Complex Trait Analysis2011/01/01English4,469
A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data2003/11/01English2,809
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 Studies2003/05/01English2,405
Multipoint Quantitative-Trait Linkage Analysis in General Pedigrees1998/05/01English2,241
Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering2007/11/01English2,166
10 Years of GWAS Discovery: Biology, Function, and Translation2017/07/01English1,867
Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families1998/03/01English1,863
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies2010/05/01English1,701
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test2011/07/01English1,578
PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis1998/07/01English1,546
Five Years of GWAS Discovery2012/01/01English1,449
Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous2002/02/01English1,396
A Fast and Flexible Statistical Model for Large-Scale Population Genotype Data: Applications to Inferring Missing Genotypes and Haplotypic Phase2006/04/01English1,377
A Simple Correction for Multiple Testing for Single-Nucleotide Polymorphisms in Linkage Disequilibrium with Each Other2004/04/01English1,302
Association Mapping in Structured Populations2000/07/01English1,264
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources2009/04/01English1,259
Multifactor-Dimensionality Reduction Reveals High-Order Interactions among Estrogen-Metabolism Genes in Sporadic Breast Cancer2001/07/01English1,253
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants2016/10/01English1,209
Functional Analysis of Genetic Variation in Catechol-O-Methyltransferase (COMT): Effects on mRNA, Protein, and Enzyme Activity in Postmortem Human Brain2004/11/01English1,203
Structural Variation of Chromosomes in Autism Spectrum Disorder2008/02/01English1,202
A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals2009/02/01English1,172
Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium2004/01/01English1,161
Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis1998/04/01English1,159
A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?1998/05/01English1,081
Neuregulin 1 and Susceptibility to Schizophrenia2002/10/01English1,080
Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data2008/09/01English1,073
Accounting for Decay of Linkage Disequilibrium in Haplotype Inference and Missing-Data Imputation2005/03/01English1,067
A Note on Exact Tests of Hardy-Weinberg Equilibrium2005/05/01English1,004