James O. Tellez

Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.

Journal: Journal of medical genetics

Published: September 18, 2023

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.

Journal: Journal of medical genetics

Published: July 01, 2022

Mosaicism in Hartsfield syndrome.

Mosaicism in Hartsfield syndrome.

Journal: European journal of medical genetics

Published: November 09, 2021

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.

Journal: Annals of human genetics

Published: September 27, 2021

Further delineation of phenotypic spectrum of SCN2A-related disorder.

Further delineation of phenotypic spectrum of SCN2A-related disorder.

Journal: American journal of medical genetics. Part A

Published: May 26, 2021

Regulation of sinus node pacemaking and atrioventricular node conduction by HCN channels in health and disease.

Regulation of sinus node pacemaking and atrioventricular node conduction by HCN channels in health and disease.

Journal: Progress in biophysics and molecular biology

Published: February 13, 2021

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.

Journal: European journal of human genetics : EJHG

Published: March 23, 2018

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.

Journal: Neuromuscular disorders : NMD

Published: July 18, 2017

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Journal: Orphanet journal of rare diseases

Published: June 01, 2017

The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

Journal: Journal of thrombosis and haemostasis : JTH

Published: July 19, 2015

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

Journal: Journal of the American Society of Nephrology : JASN

Published: April 12, 2014

Importance of gradients in membrane properties and electrical coupling in sinoatrial node pacing.

Importance of gradients in membrane properties and electrical coupling in sinoatrial node pacing.

Journal: PloS one

Published: October 21, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026