Siobhan Loughna

University Park
Nottingham, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 19 publications

Generation of human induced pluripotent stem cell lines carrying a heterozygous and homozygous PRKD1 c.1774G > A genetic variant causing syndromic congenital defects.

Generation of human induced pluripotent stem cell lines carrying a heterozygous and homozygous PRKD1 c.1774G > A genetic variant causing syndromic congenital defects.

Journal: Stem cell research

Published: December 21, 2025

Structural, biophysical and cellular assessment of filamin C M82K: A test case for VUS interpretation in cardiomyopathy.

Structural, biophysical and cellular assessment of filamin C M82K: A test case for VUS interpretation in cardiomyopathy.

Journal: Journal of molecular and cellular cardiology

Published: December 19, 2025

Structural, biophysical and cellular assessment of filamin C M82K: A test case for VUS interpretation in cardiomyopathy.

Structural, biophysical and cellular assessment of filamin C M82K: A test case for VUS interpretation in cardiomyopathy.

Journal: Journal of molecular and cellular cardiology

Published: December 19, 2025

Comprehensive biophysical and structural profiling of alpha-actinin-2 variants reveals mechanistic diversity in hypertrophic cardiomyopathy.

Comprehensive biophysical and structural profiling of alpha-actinin-2 variants reveals mechanistic diversity in hypertrophic cardiomyopathy.

Journal: Nature communications

Published: November 18, 2025

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

Journal: Genome medicine

Published: May 09, 2025

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study.

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study.

Journal: NPJ genomic medicine

Published: March 03, 2025

Atrial electrical alterations with intact cardiac structure and contractile function in a mouse model of an HCM-linked ACTN2 variant.

Atrial electrical alterations with intact cardiac structure and contractile function in a mouse model of an HCM-linked ACTN2 variant.

Journal: Journal of molecular and cellular cardiology plus

Published: December 20, 2024

Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.

Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.

Journal: Journal of anatomy

Published: October 27, 2024

Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.

Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.

Journal: The Journal of general physiology

Published: October 07, 2024

Human Genetics of Congenital Heart Defects.

Human Genetics of Congenital Heart Defects.

Journal: Advances in experimental medicine and biology

Published: June 17, 2024

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.

Journal: Journal of anatomy

Published: June 29, 2023

Characterisation of the developing heart in a pressure overloaded model utilising RNA sequencing to direct functional analysis.

Characterisation of the developing heart in a pressure overloaded model utilising RNA sequencing to direct functional analysis.

Journal: Journal of anatomy

Published: October 07, 2019

Showing 1-12 of 19

Last Updated: 09/26/2026