Publications
Our work has appeared in the last years in more than 50 scientific articles published by our clients in high impact index journals
Publications
Next-generation sequencing reveals remarkable genetic stability in primary and corresponding recurrent intestinal recurrent-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...
Next-generation sequencing reveals remarkable genetic stability in primary and corresponding recurrent intestinal recurrent-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.
Hyperinflammatory Immune Response in COVID-19: Host Genetic Factors in Pyrin Inflammasome and Immunity to Virus in a Spanish Population from Majorca Island.
Martínez-Pomar N, et al. Biomedicines. 2023 Sep 16;11(9):2548.
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
Sanchez-Fernandez 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
Marquez-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.
*Only articles published since 2020 are shown in this list.