Next generation tools for the annotation of human SNPs

Polymorphisms in the CD3Z Gene Influence TCR  Expression in Systemic Lupus Erythematosus Patients and Healthy Controls

(2014) C. L. Gorman et al.   JOURNAL OF IMMUNOLOGY

Variation in the miRNA-433 Binding Site of FGF20 Confers Risk for Parkinson Disease by Overexpression of α-Synuclein

(2008) Gaofeng Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

(2008) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis

(2008) Julio Rodriguez-Lopez et al.   ARTHRITIS AND RHEUMATISM

Screening of functional and positional candidate genes in families with common variable immunodeficiency

(2008) Ulrich Salzer et al.   BMC IMMUNOLOGY

Polymorphisms in MGMT and DNA repair genes and the risk of esophageal adenocarcinoma

(2008) James Doecke et al.   INTERNATIONAL JOURNAL OF CANCER

Characterization of novel mutations in the catalytic domain of the PCSK9 gene

(2008) J. Cameron et al.   JOURNAL OF INTERNAL MEDICINE

Mutation analysis and characterization of HSD17B2 sequence variants in breast cancer cases from French Canadian families with high risk of breast and ovarian cancer

(2008) Marie Plourde et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

KEGG Atlas mapping for global analysis of metabolic pathways

(2008) S. Okuda et al.   NUCLEIC ACIDS RESEARCH

PDE4B polymorphisms and decreased PDE4B expression are associated with schizophrenia

(2008) S. Hossein Fatemi et al.   SCHIZOPHRENIA RESEARCH

Correlating observed odds ratios from lung cancer case–control studies to SNP functional scores predicted by bioinformatic tools

(2007) Yong Zhu et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Understanding the molecular machinery of genetics through 3D structures

(2007) Roman A. Laskowski et al.   NATURE REVIEWS GENETICS