publicaciones-cientificas

Publicaciones científicas

Nuestros análisis y metodología están avalados por publicaciones en las revistas científicas internacionales más prestigiosas.

 

2020

Comprehensive Genomic Diagnosis of Inherited Retinal and Optical Nerve Disorders Reveals Hidden Syndromes and Personalized Therapeutic Options. Diñeiro et al. Acta Ophthalmo.

Circulating tumor cells for comprehensive and multiregional non-invasive genetic characterization of multiple myeloma. Garcés et al. Leukemia.

 

2019

Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene. Diñeiro et al. European Journal of Human Genetics. 

• Healthspan and lifespan extension by fecal microbiota transplantation into progeroid mice. Bárcena et al. Blood.

Natural history and cell-of-origin of TCF3-ZNF384 and PTPN11 mutations in monozygotic twins with concordant BCP-ALL. Bueno et al. Blood.

Computational de-orphanization of the olive oil biophenol oleacein: Discovery of new metabolic and epigenetic targets. Cuyás et al. Food and Chemical Toxicology.

• New Chondrosarcoma Cell Lines with Preserved Stem Cell Properties to Study the Genomic Drift During In Vitro/In Vivo Growth. Rey et al. Journal of Clinical Medicine.

• CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1 mantle cell lymphoma. Martín-García et al. Blood.

• Enhanced hemato-endothelial specification during humanembryonic differentiation through developmental cooperation between AF4-MLL and MLL-AF4 fusions. Bueno et al. Haematologica.

 

2018

• Comprenhensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. Cabanillas et al. BCM Medical Genomics.

• Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets. Karube et al. Leukemia.

 

2017

From Waldenström’s macroglobulinemia to aggressive diffuse large B-cell lymphoma: a whole-exome analysis of abnormalities leading to transformation. Jiménez el al. Blood Cancer J.

A novel molecular diagnostics platform for somatic and germline precision oncology. Cabanillas et al.  Mol Genet Genomic Med.

•  A Next-Generation Sequencing Strategy for Evaluating the Most Common Genetic Abnormalities in Multiple Myeloma. Jiménez et al. J Mol Diagn.

• Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes. Bastida et al. Thromb Haemost.

 

2014

• POT1 loss-of-function variants predispose to familial melanoma. Robles-Espinosa el al. Nat Genet.

 

2013

Identification of novel tumor suppressor proteases by degradome profiling of colorectal carninomas. Fraile et al. Oncotarget. 

• POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Ramsay et al. Nat Genet.

 

2012

• Estimation of copy number alterations from exome sequencing data. Valdés-Más et al. PLoS One.

 

2011

• Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.  Quesada et al. Nat Genet.

• Whole-genome sequencing identifies recurrent mutations in chronic lymphocituc leukaemia. Puente et al. Nature

• Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Puente et al. Am J Hum Genet.

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