Scientific Publications
Journal Article (162)
1.
Journal Article
5 (5), 5:5770 (2014)
European sea bass genome and its variation provide insights into adaptation to euryhalinity and speciation. Nature Communications 2.
Journal Article
7 (2), pp. 522 - 530 (2014)
Germ line Methylation Patterns Determine the Distribution of Recombination Events in the Dog Genome. Genome biology and evolution 3.
Journal Article
42 (22), pp. 13689 - 13695 (2014)
Inference of interactions between chromatin modifiers and histone modifications: from ChIP-Seq data to chromatin-signaling. Nucleic Acids Research (London) 4.
Journal Article
15, 15:550 (2014)
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biology 5.
Journal Article
13 (12), pp. 5592 - 5602 (2014)
Integrative analysis of transcriptomics, proteomics and metabolomics data of white adipose and liver tissue of high-fat diet and rosiglitazone-treated insulin-resistant mice identified pathway alterations and molecular hubs. Journal of Proteome Research 6.
Journal Article
95 (6), pp. 763 - 770 (2014)
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. The American Journal of Human Genetics 7.
Journal Article
95 (6), pp. 729 - 735 (2014)
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology. The American Journal of Human Genetics 8.
Journal Article
53, pp. 1 - 4 (2014)
Editorial: Complexity in genomes. Computational Biology and Chemistry 9.
Journal Article
164A (12), pp. 3170 - 3175 (2014)
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. American Journal of Medical Genetics Part A 10.
Journal Article
16 (4), pp. 465 - 477 (2014)
Computational modeling of drug response with applications to neuroscience. Dialogues in Clinical Neuroscience 11.
Journal Article
16 (4), pp. 465 - 477 (2014)
Computational modelling of drug response with applications to neuroscience. Dialogues in Clinical Neuroscience 12.
Journal Article
1 (12), pp. 1024 - 1035 (2014)
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Annals of Clinical and Translational Neurology 13.
Journal Article
35 (12), pp. 1427 - 1435 (2014)
Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Human Mutation 14.
Journal Article
67 (12), pp. 1099 - 1103 (2014)
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes. Journal of Clinical Pathology 15.
Journal Article
23 (23), pp. 6163 - 6176 (2014)
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. Human Molecular Genetics 16.
Journal Article
53, Pt A, pp. 79 - 83 (2014)
Evidence of a cancer type-specific distribution for consecutive somatic mutation distances. Computational Biology and Chemistry 17.
Journal Article
25 (11-12), pp. 600 - 617 (2014)
Pathway deregulation and expression QTLs in response to Actinobacillus pleuropneumoniae infection in swine. Mammalian Genome 18.
Journal Article
123 (6), pp. 609 - 624 (2014)
Contrasting behavior of heterochromatic and euchromatic chromosome portions and pericentric genome separation in pre-bouquet spermatocytes of hybrid mice. Chromosoma: Biology of the Nucleus 19.
Journal Article
30 (23), pp. 3410 - 3411 (2014)
PHOXTRACK-a tool for interpreting comprehensive datasets of post-translational modifications of proteins. Bioinformatics 20.
Journal Article
5, 5:5569 (2014)
Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes. Nature Communications