Karen Stals

6PUBLICATIONS
135CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Medical biochemistry - proteins and peptides (incl. medical proteomics)Cellular nervous systemGene mapping
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

|Apr 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Eric N Anderson, Stephan Drukewitz, Sukhleen Kour

|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova

|Jul 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Mythily Ganapathi, Leticia S Matsuoka, Michael March

|Mar 08, 2018
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

K J Low, K Stals, R Caswell

|Nov 03, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Karen L Stals, Matthew Wakeling, Júlia Baptista

Pageof 1

Frequent Collaborators

3 joint publications

Alexis Brice

3 joint publications

Kailash P Bhatia

3 joint publications

Suzanne Lesage

3 joint publications

Andrey Y Abramov