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Publications

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT. et al, (2023), Genome medicine, 15

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.

Shoemark A. et al, (2022), The European respiratory journal

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

Shoemark A. et al, (2022), EUROPEAN RESPIRATORY JOURNAL, 60

The clinical relevance of tumor RAS/TP53 dual mutation in early and metastatic colorectal cancer (CRC).

Seligmann JF. et al, (2022), JOURNAL OF CLINICAL ONCOLOGY, 40

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

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