Miriam Elbracht

21PUBLICATIONS
267CO-AUTHORS
Neurology and neuromuscular diseasesHaematological tumoursGene mappingPharmacogenomicsGenetic immunology
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Publications (21)

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Feb 27, 2026
MDM4 haploinsufficiency leads to p53-mediated bone marrow failure.

Richa Sharma, Senthil Velan Bhoopalan, Robert Meyer

|Feb 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Benita Menden, Rana D Incebacak Eltemur, German Demidov

|Feb 04, 2026
The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients.

Madeline Gorny, Katja S Just, Tim Krüger

|Dec 24, 2025
Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.

Matthias Begemann, Johannes Alexander Tobias Boy, Florian Kraft

|Jun 30, 2025
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.

Mahmoud R Fassad, Sebastian Valenzuela, Monika Oláhová

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Frequent Collaborators

12 joint publications

Ingo Kurth

10 joint publications

Miriam Elbracht

9 joint publications

Florian Kraft

8 joint publications

Thomas Eggermann