Miriam Elbracht

Aachen, NW, Germany

Last Updated: 09/26/2026

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Found 104 publications

JAK2V617F-positive clonal hematopoiesis in germline BRCA1 versus BRCA2 mutation carriers.

JAK2V617F-positive clonal hematopoiesis in germline BRCA1 versus BRCA2 mutation carriers.

Journal: Leukemia

Published: March 24, 2026

Exome and Genome Sequencing for the Diagnosis of Rare Diseases.

Exome and Genome Sequencing for the Diagnosis of Rare Diseases.

Journal: Deutsches Arzteblatt international

Published: March 19, 2026

Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.

Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.

Journal: Blood cancer journal

Published: September 18, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients.

The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients.

Journal: European journal of human genetics : EJHG

Published: August 28, 2025

Role of CAMK2D in neurodevelopment and associated conditions.

Role of CAMK2D in neurodevelopment and associated conditions.

Journal: American journal of human genetics

Published: August 12, 2025

Precision medicine.

Precision medicine.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: July 21, 2025

Editorial - Patient perspectives on new therapies for genetic diseases.

Editorial - Patient perspectives on new therapies for genetic diseases.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: July 21, 2025

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders.

Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders.

Journal: Blood cancer journal

Published: May 16, 2025

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.

Journal: Genetics research

Published: April 10, 2025

Showing 1-12 of 104

Last Updated: 09/26/2026