The American Journal of Human Genetics

Title Publication Date Language Citations
A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis2004/08/01English956
A Mutation in the LDL Receptor–Related Protein 5 Gene Results in the Autosomal Dominant High–Bone-Mass Trait2002/01/01English876
A One-Penny Imputed Genome from Next-Generation Reference Panels2018/09/01English868
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy2001/06/01English855
A General Test of Association for Quantitative Traits in Nuclear Families2000/01/01English835
Serotonin Transporter Promoter Gain-of-Function Genotypes Are Linked to Obsessive-Compulsive Disorder2006/05/01English821
A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes2007/02/01English791
Walking the Interactome for Prioritization of Candidate Disease Genes2008/04/01English788
Rapid Clearance of Fetal DNA from Maternal Plasma1999/01/01English778
Linkage Disequilibrium in Humans: Models and Data2001/07/01English768
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia2003/07/01English765
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores2015/10/01English759
Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination1998/09/01English748
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations2017/04/01English745
Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma2001/07/01English742
Are Rare Variants Responsible for Susceptibility to Complex Diseases?2001/07/01English742
Runs of Homozygosity in European Populations2008/09/01English741
Familial Primary Pulmonary Hypertension (Gene PPH1) Is Caused by Mutations in the Bone Morphogenetic Protein Receptor–II Gene2000/09/01English735
Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies1999/07/01English732
Allele-Sharing Models: LOD Scores and Accurate Linkage Tests1997/11/01English728
Estimating Missing Heritability for Disease from Genome-wide Association Studies2011/03/01English706
Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein2001/03/01English684
Genotype Imputation with Millions of Reference Samples2016/01/01English684
Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy2002/02/01English677
A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis2004/11/01English676
Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies2012/08/01English676
Prevalence and Penetrance of Germline BRCA1 and BRCA2 Mutations in a Population Series of 649 Women with Ovarian Cancer2001/03/01English671
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*2006/07/01English659
How Malaria Has Affected the Human Genome and What Human Genetics Can Teach Us about Malaria2005/08/01English652
CARD15/NOD2 Mutational Analysis and Genotype-Phenotype Correlation in 612 Patients with Inflammatory Bowel Disease2002/04/01English645