Carme Camps

Roosevelt Drive
Oxford, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 19 publications

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

Journal: medRxiv : the preprint server for health sciences

Published: May 25, 2026

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

Journal: American journal of human genetics

Published: November 12, 2023

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

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

Journal: Genome medicine

Published: December 14, 2022

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

Journal: The Journal of experimental medicine

Published: June 06, 2022

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

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

Journal: Science advances

Published: December 03, 2021

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

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

Journal: The New England journal of medicine

Published: November 10, 2021

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 04, 2019

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

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

Journal: Blood

Published: March 09, 2018

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.

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: The lancet. Gastroenterology & hepatology

Published: September 14, 2017

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.

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: PLoS medicine

Published: July 15, 2016

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

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

Journal: PloS one

Published: May 26, 2016

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

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

Journal: Haematologica

Published: February 09, 2016

Showing 1-12 of 19

Last Updated: 09/26/2026