Catherine L. Mercer

Coxford Road
Southampton, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS.

Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS.

Journal: Circulation. Genomic and precision medicine

Published: March 25, 2025

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.

Journal: American journal of medical genetics. Part A

Published: August 26, 2021

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Journal: American journal of human genetics

Published: October 08, 2018

The experiences of myocardial infarction patients readmitted within six months of primary percutaneous coronary intervention.

The experiences of myocardial infarction patients readmitted within six months of primary percutaneous coronary intervention.

Journal: Journal of clinical nursing

Published: December 28, 2016

Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA.

Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA.

Journal: Circulation. Cardiovascular genetics

Published: December 02, 2016

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

Journal: American journal of human genetics

Published: March 03, 2016

Chromosome 5q33 deletions associated with congenital heart defects.

Chromosome 5q33 deletions associated with congenital heart defects.

Journal: American journal of medical genetics. Part A

Published: February 16, 2016

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Journal: American journal of human genetics

Published: December 10, 2014

Rare variants in NR2F2 cause congenital heart defects in humans.

Rare variants in NR2F2 cause congenital heart defects in humans.

Journal: American journal of human genetics

Published: October 24, 2013

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

Journal: Human molecular genetics

Published: June 14, 2012

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Journal: European journal of medical genetics

Published: May 07, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026