Renee J Thompson

11PUBLICATIONS
95CO-AUTHORS
Neurology and neuromuscular diseasesMedical molecular engineering of nucleic acids and proteinsCancer geneticsInfant and child healthEpigenetics (incl. genome methylation and epigenomics)
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Publications (11)

|Jul 20, 2026
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

|Mar 03, 2026
A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies.

Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou

|Jan 07, 2026
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.

Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel

|Dec 30, 2025
Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.

Ozge Aksel Kilicarslan, Andrea Gangfuß, Heike Kölbel

|Sep 25, 2025
Caregiver-child affective dynamics during preschool predict preadolescent suicidal thoughts and behaviors.

Laura E Quiñones-Camacho, Kirsten E Gilbert, Laura Hennefield

|Apr 14, 2025
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Alexa Derksen, Rachel Thompson, Madeeha Shaikh

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Frequent Collaborators

8 joint publications

Hanns Lochmüller

3 joint publications

Andrea Gangfuß

3 joint publications

Kiran Polavarapu

3 joint publications

Rita Horvath