Journal Article (11)
1.
Journal Article
12, 12:483 (2011)
Ortho2ExpressMatrix--a web server that interprets cross-species gene expression data by gene family information. BMC Genomics 2.
Journal Article
20, pp. 104 - 114 (2011)
The KRAB-containing zinc-finger transcriptional regulator ZBRK1 activates SCA2 gene transcription through direct interaction with its gene product, ataxin-2. Human Molecular Genetics 3.
Journal Article
90 (6-7), pp. 603 - 11 (2011)
Alterations of pre-mRNA splicing in human inflammatory bowel disease. European Journal of Cell Biology 4.
Journal Article
4 (68) (2011)
Technical Challenges of targeted DNA Enrichment to identify Geneic Variations in Cancer Patiens. BMC Medical Genomics 5.
Journal Article
4, p. 68 (2011)
Targeted high throughput sequencing in clinical cancer settings: formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity. BMC Med Genomics 6.
Journal Article
25 (12), pp. 1840 - 8 (2011)
The Interlaboratory RObustness of Next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories. Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K 7.
Journal Article
15 (2), pp. 311 - 24 (2011)
The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response. Antioxidants & Redox Signaling 8.
Journal Article
RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. J Bone Miner Res (2011)
9.
Journal Article
27 (6), pp. 829 - 36 (2011)
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 10.
Journal Article
27 (6), pp. 829 - 36 (2011)
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 11.
Journal Article
30 (2), pp. 199 - 210 (2011)
The power of NGS technologies to delineate the genome organization in cancer: from mutations to structural variations and epigenetic alterations. Cancer Metastasis Reviews