Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

Heterogeneity of Genetic Modifiers Ensures Normal Cardiac Development

(2010) Julia B. Winston et al.   CIRCULATION

GATA4 Mutations in 357 Unrelated Patients with Congenital Heart Malformation

(2010) Tanya L. Butler et al.   Genetic Testing and Molecular Biomarkers

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

(2010) Javier T. Granados-Riveron et al.   HUMAN MOLECULAR GENETICS

Structural Basis of TBX5–DNA Recognition: The T-Box Domain in Its DNA-Bound and -Unbound Form

(2010) Christian U. Stirnimann et al.   JOURNAL OF MOLECULAR BIOLOGY

Structural determinants stabilizing helical distortions related to proline

(2010) Julien Rey et al.   JOURNAL OF STRUCTURAL BIOLOGY

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

Functional Role of Transcriptional Factor TBX5 in Pre-mRNA Splicing and Holt-Oram Syndrome via Association with SC35

(2009) Chun Fan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE