Julie C. Evans

North London, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 33 publications

What does qualitative evidence tell us about how having a diagnosis of type 1 diabetes mellitus impacts an individual's identity? A systematic review.

What does qualitative evidence tell us about how having a diagnosis of type 1 diabetes mellitus impacts an individual's identity? A systematic review.

Journal: Journal of health psychology

Published: August 28, 2025

Case Report: A simple case of drug-induced secondary antibody deficiency or a rare primary immune deficiency?

Case Report: A simple case of drug-induced secondary antibody deficiency or a rare primary immune deficiency?

Journal: Frontiers in immunology

Published: May 16, 2025

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

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

Published: January 27, 2025

Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model.

Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model.

Journal: Clinical genetics

Published: January 02, 2025

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

Weighting of risk factors for low birth weight: a linked routine data cohort study in Wales, UK.

Weighting of risk factors for low birth weight: a linked routine data cohort study in Wales, UK.

Journal: BMJ open

Published: February 10, 2023

Insights from linking police domestic abuse data and health data in South Wales, UK: a linked routine data analysis using decision tree classification.

Insights from linking police domestic abuse data and health data in South Wales, UK: a linked routine data analysis using decision tree classification.

Journal: The Lancet. Public health

Published: January 27, 2023

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Journal: Clinical genetics

Published: January 23, 2023

Factors associated with low school readiness, a linked health and education data study in Wales, UK.

Factors associated with low school readiness, a linked health and education data study in Wales, UK.

Journal: PloS one

Published: August 12, 2022

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.

Journal: Journal of medical genetics

Published: July 21, 2022

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Journal: American journal of human genetics

Published: January 24, 2021

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Journal: American journal of human genetics

Published: December 20, 2020

Showing 1-12 of 33

Last Updated: 09/26/2026