32 results on '"López-Bigas, Núria"'
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2. Assessment of Human SARS CoV-2-Specific T-Cell Responses Elicited In Vitro by New Computationally Designed mRNA Immunogens (COVARNA)
3. Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis
4. Detection of early seeding of Richter transformation in chronic lymphocytic leukemia
5. Abstract 3795: Early seeding of Richter transformation in chronic lymphocytic leukemia
6. High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer
7. The road ahead in genetics and genomics
8. Pervasive lesion segregation shapes cancer genome evolution
9. Author Correction: Reduced mutation rate in exons due to differential mismatch repair
10. Abstract 3282: Standardization and coordination of variant interpretation knowledgebases improves clinical genome actionability
11. Discovery and characterization of coding and non-coding driver mutations in more than 2,500 whole cancer genomes
12. Reduced mutation rate in exons due to differential mismatch repair
13. Whole-genome landscapes of major melanoma subtypes
14. OncodriveFML: a general framework to identify coding and non-coding regions with cancer driver mutations
15. Nucleotide excision repair is impaired by binding of transcription factors to DNA
16. An Intronic microRNA Links Rb/E2F and EGFR Signaling
17. Mapping of six somatic linker histone H1 variants in human breast cancer cells uncovers specific features of H1.2
18. HDAC7 Is a Repressor of Myeloid Genes Whose Downregulation Is Required for Transdifferentiation of Pre-B Cells into Macrophages
19. Inhibition of Specific NF-κB Activity Contributes to the Tumor Suppressor Function of 14-3-3σ in Breast Cancer
20. mir-11 limits the proapoptotic function of its host gene, dE2f1
21. Biological Convergence of Cancer Signatures
22. A partially supervised classification approach to dominant and recessive human disease gene prediction
23. Differences in the evolutionary history of disease genes affected by dominant or recessive mutations
24. Structural and functional properties of genes involved in human cancer
25. A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family
26. Highly consistent patterns for inherited human diseases at the molecular level
27. Are splicing mutations the most frequent cause of hereditary disease?
28. Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea
29. RETRACTED: Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea
30. Connexin mutations in hearing loss, dermatological and neurological disorders
31. A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
32. The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness
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