All Stories

  1. TET enzymes as oxygen-dependent tumor suppressors: exciting new avenues for cancer management
  2. Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks
  3. Epigenetics in the heart: the role of histone modifications in cardiac remodelling
  4. The Dynamics of Genome-wide DNA Methylation Reprogramming in Mouse Primordial Germ Cells
  5. Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1
  6. BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome
  7. High Frequency Of Submicroscopic Chromosomal Deletions in Patients with Idiopathic Congenital Eye Malformations
  8. Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans
  9. A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis
  10. Collaboratively charting the gene-to-phenotype network of human congenital heart defects
  11. Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1
  12. Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?
  13. Network Analysis of Differential Expression for the Identification of Disease-Causing Genes
  14. A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications
  15. Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism
  16. A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay
  17. ModuleMiner - improved computational detection of cis-regulatory modules: are there different modes of gene regulation in embryonic development and adult tissues?
  18. Partial duplications of the ATRX gene cause the ATR-X syndrome
  19. Left-ventricular non-compaction in a patient with monosomy 1p36
  20. Subtelomeric imbalances in phenotypically normal individuals
  21. A microduplication ofCBP in a patient with mental retardation and a congenital heart defect
  22. Anterior cervical hypertrichosis and mental retardation
  23. 25 Mb deletion of 13q13.3→q21.31 in a patient without retinoblastoma