All Stories

  1. Genetic basis of congenital cardiovascular malformations
  2. Integrative genomic analysis of the human immune response to influenza vaccination
  3. Clan Genomics and the Complex Architecture of Human Disease
  4. Left ventricular noncompaction in Sotos syndrome
  5. Genetics of Common Disorders
  6. Genetic Disorders with both Hearing Loss and Cardiovascular Abnormalities
  7. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing
  8. Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections
  9. Novel cardiac findings in periventricular nodular heterotopia
  10. PTPN11 Mutation Associated with Aortic Dilation and Hypertrophic Cardiomyopathy in a Pediatric Patient with Noonan Syndrome
  11. The futility of genomic counseling: essential role of electronic health records
  12. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations
  13. Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly
  14. Array-Based DNA Diagnostics: Let the Revolution Begin
  15. Loss-of-Function Mutations in Growth Differentiation Factor-1 (GDF1) Are Associated with Congenital Heart Defects in Humans
  16. A Genomewide Single-Nucleotide–Polymorphism Panel for Mexican American Admixture Mapping
  17. Identification of a novel role of ZIC3 in regulating cardiac development
  18. Characterization of the interactions of human ZIC3 mutants with GLI3
  19. Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation
  20. Zic3 is critical for early embryonic patterning during gastrulation
  21. Heart defects in X-linked heterotaxy: Evidence for a genetic interaction of Zic3 with the nodal signaling pathway
  22. Genetics of human heterotaxias
  23. European Population Substructure: Clustering of Northern and Southern Populations
  24. Total is more than the sum of the parts: Phenotyping the heart in cardiovascular genetics clinics
  25. X-Linked Menkes Disease: First Documented Report of Germ-Line Mosaicism
  26. Mexican American ancestry-informative markers: examination of population structure and marker characteristics in European Americans, Mexican Americans, Amerindians and Asians
  27. Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects
  28. Genome-Wide Linkage Disequilibrium and Haplotype Maps
  29. BCR gene expression blocks Bcr-Abl induced pathogenicity in a mouse model
  30. Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development
  31. Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency
  32. Gene trap screening using negative selection: Identification of two tandem, differentially expressed loci with potential hematopoietic function
  33. Gene trap screening using negative selection: Identification of two tandem, differentially expressed loci with potential hematopoietic function
  34. Recent progress in the molecular genetics of congenital heart defects
  35. Sixty-nine kilobases of contiguous human genomic sequence containing the ?-galactosidase A and Bruton's tyrosine kinase loci
  36. Insights into lymphocyte development from X-linked immune deficiencies
  37. The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia
  38. Two cases of severe lethal Smith‐Lemli‐Opitz syndrome
  39. Developments Leading to Human Gene Therapy