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Publications

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.

Rota IA. et al, (2021), Science advances, 7

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

Smedley D. et al, (2021), New England Journal of Medicine, 385, 1868 - 1880

Implementation of the Quality Oncology Practice Initiative Program in Spain: First Results and Implications.

Camps C. et al, (2021), JCO oncology practice, 17, e1162 - e1169

dPCR application in liquid biopsies: divide and conquer.

Moreno-Manuel A. et al, (2021), Expert review of molecular diagnostics, 21, 3 - 15

Strategies for increasing diagnostic rate in patients with primary immunological disorders within the Genomics England 100,000 Genomes Project

Camps C. et al, (2020), EUROPEAN JOURNAL OF HUMAN GENETICS, 28, 106 - 106

A profile on cobas® EGFR Mutation Test v2 as companion diagnostic for first-line treatment of patients with non-small cell lung cancer.

Torres S. et al, (2020), Expert review of molecular diagnostics, 20, 575 - 582

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

Schwarze K. et al, (2019), Genetics in Medicine

Utility of whole-genome sequencing in the clinical diagnostic of rare inherited anaemias

Camps C. et al, (2018), EUROPEAN JOURNAL OF HUMAN GENETICS, 26, 675 - 676

Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series

Domingo E. et al, (2018), The Lancet Gastroenterology & Hepatology, 3, 635 - 643

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Lenglet M. et al, (2018), Blood, 132, 469 - 483

Isolated erythrocytosis as the first symptom of congenital hypermanganesemia due to homozygous mutation in the SLC30A10 gene

Cario H. et al, (2018), ONCOLOGY RESEARCH AND TREATMENT, 41, 194 - 194

EARLY LESSONS FROM WHOLE-GENOME SEQUENCING IN THE CLINICAL DIAGNOSIS OF RARE INHERITED ANAEMIAS

Roy N. et al, (2017), HAEMATOLOGICA, 102, 583 - 583

Exosomal microRNAs in liquid biopsies: future biomarkers for prostate cancer.

Valentino A. et al, (2017), Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 19, 651 - 657

Erlotinib and bevacizumab in patients with advanced non-small-cell lung cancer and activating EGFR mutations (BELIEF): an international, multicentre, single-arm, phase 2 trial.

Rosell R. et al, (2017), The Lancet. Respiratory medicine, 5, 435 - 444

Correlation of DNA Repair Gene Polymorphisms With Clinical Outcome in Patients With Locally Advanced Non-Small-Cell Lung Cancer Receiving Induction Chemotherapy Followed by Surgery.

Santarpia M. et al, (2017), Clinical lung cancer, 18, 178 - 188.e4

European edition of the NCCN clinical practice guidelines: relevance of the translation and adaptation into Spanish.

Guillem V. et al, (2017), Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 19, 288 - 290

Profile of the Roche cobas® EGFR mutation test v2 for non-small cell lung cancer.

Malapelle U. et al, (2017), Expert review of molecular diagnostics, 17, 209 - 215

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service

Hamblin A. et al, (2017), PLOS Medicine, 14, e1002230 - e1002230

Analysis of the prognostic role of an immune checkpoint score in resected non-small cell lung cancer patients.

Usó M. et al, (2017), Oncoimmunology, 6

Drawing Links from Transcriptome to Metabolites: The Evolution of Aroma in the Ripening Berry of Moscato Bianco (Vitis vinifera L.).

Costantini L. et al, (2017), Frontiers in plant science, 8

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