The American Journal of Human Genetics

Title Publication Date Language Citations
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family2004/03/01English495
ACTN3 Genotype Is Associated with Human Elite Athletic Performance2003/09/01English493
Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype2002/09/01English490
Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote2006/09/01English490
Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates2003/04/01English482
Genomewide Search for Type 2 Diabetes–Susceptibility Genes in French Whites: Evidence for a Novel Susceptibility Locus for Early-Onset Diabetes on Chromosome 3q27-qter and Independent Replication of a Type 2–Diabetes Locus on Chromosome 1q21–q242000/12/01English481
A Generalization of the Transmission/Disequilibrium Test for Uncertain-Haplotype Transmission1999/10/01English474
Determining Carrier Probabilities for Breast Cancer–Susceptibility Genes BRCA1 and BRCA21998/01/01English473
Tobacco-Smoking-Related Differential DNA Methylation: 27K Discovery and Replication2011/04/01English472
RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry Inference2013/08/01English469
A Highly Significant Association between a COMT Haplotype and Schizophrenia2002/12/01English468
Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum1999/09/01English467
Genomic Divergences between Humans and Other Hominoids and the Effective Population Size of the Common Ancestor of Humans and Chimpanzees2001/02/01English466
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome2002/11/01English465
Contribution of SHANK3 Mutations to Autism Spectrum Disorder2007/12/01English458
Genetic Association of the R620W Polymorphism of Protein Tyrosine Phosphatase PTPN22 with Human SLE2004/09/01English458
Informativeness of Genetic Markers for Inference of Ancestry*2003/12/01English452
Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia2003/02/01English450
Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects2002/07/01English449
The Future of Association Studies: Gene-Based Analysis and Replication2004/09/01English443
A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene2004/01/01English442
A Genomic Screen of Autism: Evidence for a Multilocus Etiology1999/08/01English440
Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer2004/05/01English437
Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males2005/09/01English436
A Test for Linkage and Association in General Pedigrees: The Pedigree Disequilibrium Test2000/07/01English434
NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway2006/07/01English431
Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations2003/12/01English431
A Generalized Combinatorial Approach for Detecting Gene-by-Gene and Gene-by-Environment Interactions with Application to Nicotine Dependence2007/06/01English430
A Sibship Test for Linkage in the Presence of Association: The Sib Transmission/Disequilibrium Test1998/02/01English429
The Post-GWAS Era: From Association to Function2018/05/01English429