I+D

ARTÍCULOS PUBLICADOS EN REVISTAS CIENTÍFICAS

Rodríguez-Martín B. et al, Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics (02/2020).

 

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Pan-cancer analysis of whole genomes. Nature (02/2020).

 

Rheinbay E. et al, Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. Nature (02/2020).

 

Fernández-Marmiesse A. et al, Rare variants in 48 genes account for 42% of cases of epilepsy with or without neurodevelopmental delay in 246 pediatric patients. Frontiers in Neuroscience (11/2019).

 

Fernández-Marmiesse A. et al, A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy. Seizure: European Journal of Epilepsy (10/2019).

 

Maura F. et al, Genomic landscape and chronological reconstruction of driver events in multiple myeloma. Nature Communications (08/2019).

 

Roca I. et al, PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes. Genomics (07/2019).

 

Fernández-Marmiesse A. et al, Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report. BMC Medical Genetics (06/2019).

 

Carrasco-Marina M.L. et al, [De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia]. Revista de Neurología (05/2019).

 

Petljak M. et al, Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis. Cell (03/2019).

 

Roca I. et al, Free-access copy-number variant detection tools for targeted next-generation sequencing data. Mutation Research-Reviews in Mutation Research (02/2019).

 

Panadés-de Oliveira L. et al, Bethlem myopathy: a series of 16 patients and description of seven new associated mutations. Journal of Neurology (01/2019).

 

Sousa-Santos F. et al, Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes. Archives of Endocrinology Metabolism (10/2018).

 

Collord G. et al, An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures. Scientific Reports (09/2018).

 

Aldámiz-Echevarría L. et al, New CTSA mutation in early infantile galactosialidosis. Pediatrics International (08/2018).

 

Ribeiro J. et al, Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy. Acta Myologica (06/2018).

 

Roca I. et al, Prioritization of variants detected by Next Generation Sequencing according to the mutation tolerance and mutational architecture of the corresponding genes. International Journal of Molecular Sciences (05/2018).

 

Almendra L. et al, SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family. Acta Myologica (05/2018).

 

Fernández-Marmiesse A. et al, A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder. Movement Disorders (04/2018).

 

Fernández-Marmiesse A. et al, NGS technologies as a turning point in rare disease research, diagnosis and treatment. Current Medicinal Chemistry (01/2018).

 

Díez H.et al, Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein. Movement Disorders (07/2017).

 

Russell L.J. et al, Characterisation of the genomic landscape of CRLF2-rearranged acute lymphoblastic leukemia. Genes Chromosomes Cancer (05/2017).

 

Fernández-Marmiesse A. et al, Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthogryposis multiplex congenita and myopathy without cardiac involvement. Neuromuscular Disorders (02/2017).

 

Hortigüela M. et al, Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations. Journal of Human Genetics (02/2017).

 

De Fuenmayor-Fernández de la Hoz C.P. et al, Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions. Neuromuscular Disorders (11/2016).

 

Guillín-Amarelle C. et al, Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome. Endocrine (11/2016).

 

De Fuenmayor-Fernández de la Hoz C.P. et al, A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation. Muscle & Nerve (10/2016).

 

Gundem G. et al, The evolutionary history of lethal metastatic prostate cancer. Nature (04/2016).

 

Emperador S. et al, Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and non obstructive cardiomyopathy. European Journal of Human Genetics (01/2016).

 

Tubio J.M.C., Somatic structural variation and cancer. Briefings in Functional Genomics (09/2015).

 

Ju Y.S. et al, Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells. Genome Research (06/2015).

 

Martincorena I. et al, Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin. Science (05/2015).

 

Brito S. et al, Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. Frontiers in Genetics (03/2015).

 

Tubio J.M.C. et al, Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes. Science (08/2014).

 

Cooke S.L. et al, Processed pseudogenes acquired somatically during cancer development. Nature Communications (04/2014).

 

Fernández-Marmiesse A. et al, Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. Orphanet Journal of Rare Diseases (04/2014).

 

Papaemmanuil E. et al, RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia. Nature Genetics (02/2014).

 

Bolli N. et al, Heterogeneity of genomic evolution and mutational profiles in multiple myeloma. Nature Communications (01/2014).

 

Bassaganyas L. et al, Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis. Leukemia (12/2013).

 

Morey M. et al, A glimpse into past, present, and future DNA sequencing. Molecular Genetics and Metabolism (09/2013).

 

Escaramís G. et al, PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data. PLoS One (05/2013).

 

Quesada V. et al, Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nature Genetics (12/2011).

 

Tubio J.M.C. and Estivill X., Cancer: When catastrophe strikes a cell. Nature (02/2011).