Publicaciones

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

Artículos destacados

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…

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 is important for reducing the risk of irreversible structural damage…

Next-generation sequencing reveals remarkable genetic stability in primary and corresponding recurrent intestinal-type sinonasal adenocarcinoma

Riobello C, et al. Head Neck. 2024 Feb 16.

Characterization of a Preclinical In Vitro Model Derived from a SMARCA4-Mutated Sinonasal Teratocarcinosarcoma

Lorenzo-Guerra S, et al. Cells 2024, 13(1), 81.

Next-generation sequencing improves precision medicine in hearing loss

Imizcoz T, et al. Front Genet. 2023 Sep 22;14:1264899.

Detection of early seeding of Richter transformation in chronic lymphocytic leukemia

Nadeu F, et al. Nat Med. 2022 Aug;28(8):1662-1671.

ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution

Royo R, et al. Blood Cancer J. 2022 Jun 7;12(6):90. 

PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2

Bousquets-Muñoz P, et al. NPJ Genom Med. 2022 Mar 14;7(1):19. 

Loss of p16 expression is a risk factor for recurrence in sinonasal inverted papilloma

Menendez M, et al. Rhinology. 2022 Dec 1;60(6):453-461.

Advances of Genomic Medicine in Psoriatic Arthritis

Laborde CM, et al. J Pers Med. 2022 Jan 3;12(1):35. doi: 10.3390/jpm12010035. 

Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma

Riobello C, et al. Cancers (Basel). 2021 Oct 7;13(19):5022. 

Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia

Jiménez I, et al. Biomark Res. 2021 May 20;9(1):37. 

Measurable residual disease in elderly acute myeloid leukemia: results from the PETHEMA-FLUGAZA phase 3 clinical trial

Simoes C, et al. Blood Adv. 2021 Feb 9;5(3):760-770.

Next-generation sequencing for identification of actionable gene mutations in intestinal-type sinonasal adenocarcinoma

Sánchez-Fernández P, et al. Sci Rep. 2021 Jan 26;11(1):2247. 

Contribution of Multiplex Immunoassays to Rheumatoid Arthritis Management: From Biomarker Discovery to Personalized Medicine

Laborde CM, et al. J Pers Med. 2020 Oct 30;10(4):202. 

Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes

Nadeu F, et al. Blood. 2020 Sep 17;136(12):1419-1432. 

Biological and clinical significance of dysplastic hematopoiesis in patients with newly diagnosed multiple myeloma

Maia C, et al. Blood. 2020 Jun 25;135(26):2375-2387. 

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options

Diñeiro M, et al. Acta Ophthalmol. 2020 Dec;98(8):e1034-e1048. 

Circulating tumor cells for comprehensive and multiregional non-invasive genetic characterization of multiple myeloma

Garcés JJ, et al. 2020 Nov;34(11):3007-3018. 

Clinical Validation of a NGS Capture Panel to Identify Mutations, Copy Number Variations and Translocations in Patients with Multiple Myeloma

Cuenca, I. et al. Blood (2020) 136 (Supplement 1): 13–14.

Intratumoral nanoplexed poly I:C BO-112 in combination with systemic anti-PD-1 for patients with anti-PD-1-refractory tumors

Márquez-Rodas I, et al. Sci Transl Med. 2020 Oct 14;12(565):eabb0391. 

The MNT transcription factor autoregulates its expression and supports proliferation in MYC-associated factor X (MAX)-deficient cells

Lafita-Navarro MC, et al. J Biol Chem. 2020 Feb 14;295(7):2001-2017. 

IDH2 Mutation Analysis in Undifferentiated and Poorly Differentiated Sinonasal Carcinomas for Diagnosis and Clinical Management

Riobello C, et al. Am J Surg Pathol. 2020 Mar;44(3):396-405. 

Characterization of Left Ventricular Non-Compaction Cardiomyopathy

Lorca R, et al. J Clin Med. 2020 Aug 5;9(8):2524. 

Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome

Lorca R, et al. J Clin Med. 2020 Nov 26;9(12):3846. 

Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene

Diñeiro M, et al. Eur J Hum Genet. 2020 Apr;28(4):401-402. 

Shared D-J rearrangements reveal cell of origin of TCF3-ZNF384 and PTPN11 mutations in monozygotic twins with concordant BCP-ALL

Bueno C, et al. Blood. 2020 Aug 27;136(9):1108-1111. 

Vitamin D differentially regulates colon stem cells in patient-derived normal and tumor organoids

Fernández-Barral A, et al. FEBS J. 2020 Jan;287(1):53-72. 

*En este listado se muestran únicamente los artículos publicados desde el año 2020.