Publicaciones
Nuestro trabajo ha aparecido en los últimos años en más de 50 artículos científicos publicados por nuestros clientes en revistas de alto índice de impacto
Next-generation sequencing reveals remarkable genetic stability in primary and corresponding recurrent intestinal-type sinonasal adenocarcinoma
Head & Neck 2024
Recurrent intestinal-type sinonasal adenocarcinoma (ITAC) can occur several years after primary treatment and with different…
Characterization of a Preclinical In Vitro Model Derived from a SMARCA4-Mutated Sinonasal Teratocarcinosarcoma
Cells 2024
Sinonasal teratocarcinosarcoma (TCS) is a rare tumor that displays a variable histology with admixtures of epithelial, mesenchymal, neuroendocrine and germ cell…
Next-generation sequencing improves precision medicine in hearing loss
Front Genet. 2023
An early etiological diagnosis of hearing loss positively impacts children’s quality of life including language and cognitive development. Even though…
Hyperinflammatory Immune Response in COVID-19: Host Genetic Factors in Pyrin Inflammasome and Immunity to Virus in a Spanish Population from Majorca Island
Biomedicines. 2023
The hyperinflammatory response caused by SARS-CoV-2 infection contributes to its severity, and many critically ill patients show features of cytokine…
Detection of early seeding of Richter transformation in chronic lymphocytic leukemia
Nature Medicine. 2022
Richter transformation (RT) is a paradigmatic evolution of chronic lymphocytic leukemia (CLL) into a very aggressive large B cell lymphoma conferring a dismal prognosis. The mechanisms driving…
ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution
Blood Cancer J. 2022
Chronic lymphocytic leukemia (CLL) is a disease commonly diagnosed in the elderly with a median age of ~70 years. However, CLL can also be detected in adolescent and young adults (AYA)…
PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2
NPJ Genom Med. 2022
Current somatic mutation callers are biased against repetitive regions, preventing the identification of potential driver alterations in these loci…
Loss of p16 expression is a risk factor for recurrence in sinonasal inverted papilloma
Rhinology. 2022
The purpose of this study was to evaluate p16, p53, EGFR, pEGFR protein expression and HPV infection as possible markers of tumor progression in a series of sinonasal…
Advances of Genomic Medicine in Psoriatic Arthritis
J Pers Med. 2022
Psoriatic arthritis (PsA) is a common type of inflammatory arthritis found in up to 40% of patients with psoriasis. Although early diagnosis…
Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma
Cancers (Basel). 2021
Sinonasal intestinal-type adenocarcinoma (ITAC) is strongly related to occupational exposure to wood and leather dust, however, little is known on the genetic…
Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia
Biomark Res. 2021
Mechanisms driving the progression of chronic lymphocytic leukemia (CLL) from its early stages are not fully understood. The acquisition of molecular…
Measurable residual disease in elderly acute myeloid leukemia: results from the PETHEMA-FLUGAZA phase 3 clinical trial
Blood Adv. 2021
The value of measurable residual disease (MRD) in elderly patients with acute myeloid leukemia (AML) is inconsistent between those treated with intensive…
Next-generation sequencing for identification of actionable gene mutations in intestinal-type sinonasal adenocarcinoma
Sci Rep. 2021
Intestinal-type sinonasal adenocarcinoma (ITAC) is a rare tumor carrying poor prognosis and needing new treatment options. The aim of this study was…
Contribution of Multiplex Immunoassays to Rheumatoid Arthritis Management: From Biomarker Discovery to Personalized Medicine
J Pers Med. 2020
Rheumatoid arthritis (RA) is a multifactorial, inflammatory and progressive autoimmune disease that affects approximately 1% of the population…
Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes
Blood. 2020
Mantle cell lymphoma (MCL) is a mature B-cell neoplasm initially driven by CCND1 rearrangement with 2 molecular subtypes, conventional MCL (cMCL)…
Biological and clinical significance of dysplastic hematopoiesis in patients with newly diagnosed multiple myeloma
Blood. 2020
Risk of developing myelodysplastic syndrome (MDS) is significantly increased in both multiple myeloma (MM) and monoclonal gammopathy…
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options
Acta Ophthalmol. 2020
In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis…
Circulating tumor cells for comprehensive and multiregional non-invasive genetic characterization of multiple myeloma
Leukemia. 2020
Multiple myeloma (MM) patients undergo repetitive bone marrow (BM) aspirates for genetic characterization. Circulating tumor cells (CTCs)…
Clinical Validation of a NGS Capture Panel to Identify Mutations, Copy Number Variations and Translocations in Patients with Multiple Myeloma
Blood. 2020
Multiple Myeloma (MM) is a heterogeneous disease with a complex clonal and subclonal architecture with few recurrent mutations. The arrival of next-generation sequencing (NGS)…
Intratumoral nanoplexed poly I:C BO-112 in combination with systemic anti-PD-1 for patients with anti-PD-1-refractory tumors
Sci Transl Med. 2020
Intratumoral therapies, especially Toll-like receptor agonists, can trigger both the innate and adaptive immune systems. BO-112 is a nanoplexed form…
The MNT transcription factor autoregulates its expression and supports proliferation in MYC-associated factor X (MAX)-deficient cells
J Biol Chem. 2020
The MAX network transcriptional repressor (MNT) is an MXD family transcription factor of the basic helix-loop-helix (bHLH) family. MNT dimerizes…
IDH2 Mutation Analysis in Undifferentiated and Poorly Differentiated Sinonasal Carcinomas for Diagnosis and Clinical Management
J Surg Pathol. 2020
A large number of tumor types arise from the mucosa of the sinonasal cavities. Although presenting clinically distinct behavior, due to poorly…
Characterization of Left Ventricular Non-Compaction Cardiomyopathy
J Clin Med. 2020
Left ventricle non-compaction cardiomyopathy (LVNC) has gained great interest in recent years, being one of the most controversial cardiomyopathies…
Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome
J Clin Med. 2020
Long QT syndrome (LQTS) is an inheritable arrhythmogenic disorder associated with life-threatening arrhythmic events (LAEs). In general, patients…
Vitamin D differentially regulates colon stem cells in patient-derived normal and tumor organoids
FEBS J. 2020
Intestine is a major target of vitamin D and several studies indicate an association between vitamin D deficiency and inflammatory bowel diseases…
*En este listado se muestran únicamente los artículos publicados desde el año 2020.