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Publications

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

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

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

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

Camps C. et al, (2016), Haematologica, 101, 1306 - 1318

Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis

Kaisaki PJ. et al, (2016), PLOS ONE, 11, e0162809 - e0162809

Abstract A29: Hypoxia regulated long noncoding RNAs and antisense transcripts in breast cancer: Novel insights of noncoding transcriptional regulation in hypoxic microenvironment

Choudhry H. et al, (2016), Regulation of Noncoding RNAs in Cancer

Erratum: Tumor hypoxia induces nuclear paraspeckle formation through HIF-2α dependent transcriptional activation of NEAT1 leading to cancer cell survival

Choudhry H. et al, (2015), Oncogene, 34, 4546 - 4546

Tumor hypoxia induces nuclear paraspeckle formation through HIF-2α dependent transcriptional activation of NEAT1 leading to cancer cell survival

Choudhry H. et al, (2015), Oncogene, 34, 4482 - 4490

Erratum: Corrigendum: Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Cazier J-B. et al, (2014), Nature Communications, 5

Erratum: Corrigendum: Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Cazier J-B. et al, (2014), Nature Communications, 5

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Cazier J-B. et al, (2014), Nature Communications, 5

Extensive regulation of the non-coding transcriptome by hypoxia: role of HIF in releasing paused RNApol2

Choudhry H. et al, (2014), EMBO reports, 15, 70 - 76

Integrated analysis of microRNA and mRNA expression and association with HIF binding reveals the complexity of microRNA expression regulation under hypoxia

Camps C. et al, (2014), Molecular Cancer, 13, 28 - 28

MicroRNA expression profile in head and neck cancer: HOX-cluster embedded microRNA-196a and microRNA-10b dysregulation implicated in cell proliferation

Severino P. et al, (2013), BMC Cancer, 13

Regulation of Hypoxia Responses by MicroRNA Expression

Camps C. et al, (2013), MicroRNAs in Medicine, 267 - 285

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