Miriam Elbracht

19PUBLICATIONS
232CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesHaematological tumoursPharmacogenomicsGenetic immunology
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Publications (19)

|Jun 25, 2026
Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study).

|Apr 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Philip Harrer, Volker Kittke, Alice Saparov

|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 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

|Jan 06, 2026
Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.

Robert Meyer, Maria Jimena Rodriguez, Madeline Caduc

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Frequent Collaborators

11 joint publications

Kraft Florian

10 joint publications

Miriam Elbracht

8 joint publications

Ingo Kurth

7 joint publications

Thomas Eggermann