Sarah E. Jenkinson

Framlington Place
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 23 publications

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

Journal: European journal of human genetics : EJHG

Published: February 21, 2026

Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.

Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.

Journal: European journal of human genetics : EJHG

Published: March 08, 2025

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.

Journal: American journal of medical genetics. Part A

Published: December 23, 2024

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Journal: Genome medicine

Published: November 21, 2024

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

Journal: HGG advances

Published: December 06, 2023

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Journal: medRxiv : the preprint server for health sciences

Published: September 25, 2023

PDIA6 and Maspin in Prostate Cancer.

PDIA6 and Maspin in Prostate Cancer.

Journal: Anticancer research

Published: September 08, 2023

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

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

Published: August 29, 2023

Prognostic impact of the absence of biallelic deletion at the TRG locus for pediatric patients with T-cell acute lymphoblastic leukemia treated on the Medical Research Council UK Acute Lymphoblastic Leukemia 2003 trial.

Prognostic impact of the absence of biallelic deletion at the TRG locus for pediatric patients with T-cell acute lymphoblastic leukemia treated on the Medical Research Council UK Acute Lymphoblastic Leukemia 2003 trial.

Journal: Haematologica

Published: March 10, 2018

The subclonal complexity of STIL-TAL1+ T-cell acute lymphoblastic leukaemia.

The subclonal complexity of STIL-TAL1+ T-cell acute lymphoblastic leukaemia.

Journal: Leukemia

Published: August 17, 2017

A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.

A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.

Journal: Seizure

Published: April 29, 2017

Synthesis and Biological Evaluation of Amidinourea and Triazine Congeners as Inhibitors of MDA-MB-231 Human Breast Cancer Cell Proliferation.

Synthesis and Biological Evaluation of Amidinourea and Triazine Congeners as Inhibitors of MDA-MB-231 Human Breast Cancer Cell Proliferation.

Journal: ChemMedChem

Published: November 16, 2016

Showing 1-12 of 23

Last Updated: 09/26/2026