Nick Camm

St. James's University Hospital, Beckett Street, Leed
Strete, ENG LS97TF, United Kingdom

Last Updated: 09/26/2026

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Found 8 publications

Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term plan.

Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term plan.

Journal: Atherosclerosis

Published: November 06, 2020

Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architecture.

Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architecture.

Journal: Cancer genetics

Published: October 21, 2020

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions.

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions.

Journal: Laboratory investigation; a journal of technical methods and pathology

Published: August 13, 2020

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.

Journal: Human mutation

Published: May 15, 2019

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Journal: Neuropediatrics

Published: December 19, 2017

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

Journal: Molecular diagnosis & therapy

Published: October 08, 2017

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

Journal: The Journal of molecular diagnostics : JMD

Published: June 13, 2017

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Journal: Human mutation

Published: July 19, 2013

Showing 1-8 of 8

Last Updated: 09/26/2026