Ciber de Enfermedades Raras (CIBERER)

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions (2024) Dareng EO, Coetzee SG, Tyrer JP, Peng PC, Rosenow W, Chen S, Davis BD, et al. Journal article p53 and ovarian carcinoma survival: an Ovarian Tumor Tissue Analysis consortium study (2023) Köbel M, Kang EY, Weir A, Rambau PF, Lee CH, Nelson GS, Ghatage P, et al. Journal article, Original article CCNE1 and survival of patients with tubo-ovarian high-grade serous carcinoma: An Ovarian Tumor Tissue Analysis consortium study (2023) Kang EY, Weir A, Meagher NS, Farrington K, Nelson GS, Ghatage P, Lee CH, et al. Journal article A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2 (2023) Zanti M, O'Mahony DG, Parsons MT, Li H, Dennis J, Aittomäkkiki K, Andrulis IL, et al. Journal article Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis (2022) Kožich V, Schwahn BC, Sokolová J, Křížková M, Ditroi T, Krijt J, Khalil Y, et al. Journal article Rare germline copy number variants (CNVs) and breast cancer risk (2022) Dennis J, Tyrer JP, Walker LC, Michailidou K, Dorling L, Bolla MK, Wang Q, et al. Journal article Leigh syndrome is the main clinical characteristic of PTCD3 deficiency (2022) Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, et al. Journal article Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies? (2021) Park J, Choi JY, Choi J, Chung S, Song N, Park SK, Han W, et al. Journal article Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk (2021) Kapoor PM, Mavaddat N, Choudhury PP, Wilcox AN, Lindström S, Behrens S, Michailidou K, et al. Journal article