C. Mcanulty

Practice Guidelines for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics .

A. Devereau, Z. Deans, S. Abbs, 2013 .

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

J. Newton, D. Neely, I. Berry, 2021, Atherosclerosis.

Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR Assay

M. Jackson, M. Santibanez-Koref, J. Burn, 2022, Cancers.

Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin‐binding fragment of FBN1

P. Handford, P. Brennan, S. Jensen, 2013, American journal of medical genetics. Part A.

Practice Guidelines for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics .

A. Devereau, Z. Deans, S. Abbs, 2013 .

Sequencing‐based microsatellite instability testing using as few as six markers for high‐throughput clinical diagnostics

Osagie G. Izuogu, M. Jackson, M. Santibanez-Koref, 2019, Human mutation.

Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia

M. Jackson, J. Burn, K. Wimmer, 2022, Leukemia & lymphoma.