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Renee J Thompson

10PUBLICATIONS

77CO-AUTHORS

Medical molecular engineering of nucleic acids and proteinsCancer geneticsNeurology and neuromuscular diseasesInfant and child healthEpigenetics (incl. genome methylation and epigenomics)

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Publications (10)

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|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

|Sep 18, 2023

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.

Kiran Polavarapu, Balaraju Sunitha, Ana Töpf

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Frequent Collaborators

7 joint publications

Hanns Lochmüller

3 joint publications

Andrea Gangfuß

3 joint publications

Rita Horvath

2 joint publications

Ivo Gut

2 joint publications

Sergi Beltran

2 joint publications

Peter A C 't Hoen

2 joint publications

Kiran Polavarapu

1 joint publications

Dorota M Badowska

1 joint publications

Libby Wood

1 joint publications

Tina Harmuth

Frequent Collaborators

7 joint publications

Hanns Lochmüller

3 joint publications

Andrea Gangfuß

3 joint publications

Rita Horvath

2 joint publications

Ivo Gut

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