Karen L. Stals

Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 57 publications

C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruption.

C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruption.

Journal: Matrix biology : journal of the International Society for Matrix Biology

Published: February 25, 2026

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Journal: Journal of medical genetics

Published: January 22, 2026

Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness.

Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness.

Journal: Neurogenetics

Published: January 14, 2026

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

Journal: American journal of medical genetics. Part A

Published: April 21, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: April 16, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 01, 2025

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Journal: Clinical genetics

Published: March 27, 2025

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Journal: American journal of human genetics

Published: September 13, 2024

COA5 has an essential role in the early stage of mitochondrial complex IV assembly.

COA5 has an essential role in the early stage of mitochondrial complex IV assembly.

Journal: Life science alliance

Published: August 23, 2024

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Journal: medRxiv : the preprint server for health sciences

Published: August 16, 2024

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Journal: Nature communications

Published: July 14, 2024

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.

Journal: Cells

Published: April 30, 2024

Showing 1-12 of 57

Last Updated: 09/26/2026