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Publications

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

Journal article

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.

Journal article

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

dPCR application in liquid biopsies: divide and conquer.

Journal article

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

Conference paper

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.

Journal article

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

Journal article

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

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

Conference paper

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

Journal article

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

Journal article

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

Conference paper

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

Poster

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

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

Journal article

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.

Journal article

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.

Journal article

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.

Journal article

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.

Journal article

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

Journal article

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.

Journal article

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.).

Journal article

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

The quest for epigenetic regulation underlying unisexual flower development in Cucumis melo.

Journal article

Latrasse D. et al, (2017), Epigenetics & chromatin, 10

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