The American Journal of Human Genetics

Title Publication Date Language Citations
Genetic Signatures of Strong Recent Positive Selection at the Lactase Gene2004/06/01English641
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders2014/05/01English637
Rare-Variant Association Analysis: Study Designs and Statistical Tests2014/07/01English636
Pathway-Based Approaches for Analysis of Genomewide Association Studies2007/12/01English634
Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs2001/01/01English620
Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H192003/01/01English612
A Versatile Gene-Based Test for Genome-wide Association Studies2010/07/01English605
Segmental Duplications and Copy-Number Variation in the Human Genome2005/07/01English604
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines2017/02/01English598
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease2011/07/01English596
Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease2005/01/01English595
VPS35 Mutations in Parkinson Disease2011/07/01English583
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease2008/11/01English576
DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis2016/04/01English570
Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel2011/04/01English563
Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome2000/01/01English560
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes2019/01/01English554
Pooled Association Tests for Rare Variants in Exon-Resequencing Studies2010/06/01English549
Genetic Variation in the 6p22.3 Gene DTNBP1, the Human Ortholog of the Mouse Dysbindin Gene, Is Associated with Schizophrenia2002/08/01English544
Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene2008/01/01English539
DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)2004/06/01English528
Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock2009/06/01English526
Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes2002/07/01English517
Leveraging Polygenic Functional Enrichment to Improve GWAS Power2019/01/01English517
Estimating African American Admixture Proportions by Use of Population-Specific Alleles1998/12/01English514
Beyond GWASs: Illuminating the Dark Road from Association to Function2013/11/01English513
Epigenomic Profiling Reveals DNA-Methylation Changes Associated with Major Psychosis2008/03/01English505
Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat1998/06/01English505
Schizophrenia and Affective Disorders—Cosegregation with a Translocation at Chromosome 1q42 That Directly Disrupts Brain-Expressed Genes: Clinical and P300 Findings in a Family2001/08/01English502
PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity2002/06/01English499