BETA: Related publications
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| Núñez-Carpintero I, Rigau M, Bosio M, et al. (2024) Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nature Communications. 15: 1227 |
| Quintana I, Terradas M, Mur P, et al. (2022) Wnt genes in colonic polyposis predisposition. Genes & Diseases. 10: 753-757 |
| Kurul SH, Oktay Y, Töpf A, et al. (2021) High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain : a Journal of Neurology |
| Gungor S, Oktay Y, Hiz S, et al. (2021) Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease. Iscience. 24: 101948 |
| Garcia-Reyero J, Martinez Magunacelaya N, Gonzalez de Villambrosia S, et al. (2020) Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma. Haematologica |
| Yaramis A, Lochmüller H, Töpf A, et al. (2020) -related autosomal recessive encephalopathy in 2 Turkish children. Neurology. Genetics. 6: e392 |
| García A, Aguado E, Martínez C, et al. (2019) The ethylene receptors CpETR1A and CpETR2B cooperate in the control of sex determination in Cucurbita pepo. Journal of Experimental Botany |
| Thompson R, Papakonstantinou Ntalis A, Beltran S, et al. (2019) Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Human Mutation |
| Gómez-Miragaya J, Díaz-Navarro A, Tonda R, et al. (2019) Chromosome 12p amplification in triple-negative/BRCA1-mutated breast cancer associates with emergence of docetaxel resistance and carboplatin sensitivity. Cancer Research |
| Tort F, Ugarteburu O, Texidó L, et al. (2019) Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. Human Mutation |