Matthias Rath

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Professor for Human Genetics

MSH Medical School Hamburg University of Applied Sciences and Medical University

Germany

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About

Matthias Rath is a Professor for Human Genetics at MSH Medical School Hamburg University of Applied Sciences and Medical University, Germany. His research encompasses the genetic underpinnings of diseases including Parkes Weber syndrome, thrombocytopenia, and hereditary breast and ovarian cancer. His recent work includes investigating novel mutations using CRISPR/Cas9 genome editing and the classification of genetic variants in clinical settings.

Recent Grants

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The extracellular matrix and the clonogenic survival benefit of CCM3-/- endothelial cells as new therapeutic targets for cerebral cavernous malformations

Open Date: 2020-02-01

Close Date: 2022-11-01

Articles (17)

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2020

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Matthias Rath

Research Interests

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Contact this professor

About

Recent Grants

Articles (17)

Novel postzygotic RASA1 mutation in a patient with Parkes Weber syndrome: A case report and literature review

Aggregates of nonmuscular myosin IIA in erythrocytes associate with <i>GATA1</i>- and <i>GFI1B</i>-related thrombocytopenia

Comparison of the ABC and ACMG systems for variant classification

Endothelial Differentiation of <i>CCM1</i> Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in <i>CCM</i> Genes.

Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.

Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion.

Contact-dependent signaling triggers tumor-like proliferation of CCM3 knockout endothelial cells in co-culture with wild-type cells

Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel <i>CCM1</i> transcription start site deletion

Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania

Pathogenic variants in <i>MDFIC</i> cause recessive central conducting lymphatic anomaly with lymphedema

Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial Cells.

Long-term outcome and quality of life after CNS cavernoma resection: eloquent vs. non-eloquent areas.

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters.

Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3.

Collaborators (10)

Janette Kazenwadel

Kelly Betterman

Drew Sutton

Hanna Moczulska

Peter Brautigan

Genevieve Secker

Anja Weise

Pascal Brouillard

Christopher Hahn

Natasha L. Harvey

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