Matthias Rath

Work

MSH Medical School Hamburg University of Applied Sciences and Medical University

Professor for Human Genetics

Germany

Oct 2022

→

Present

Universitätsmedizin Greifswald

Germany

Jan 2014

→

Feb 2024

Helios Kliniken Schwerin

Germany

Jan 2013

→

Dec 2013

Education

Universitätsmedizin Greifswald

Germany

Oct 2005

→

Nov 2012

Studium der Humanmedizin

Publications

Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia

Jan 2024

Published by

Journal of Thrombosis and Haemostasis

Summary

journal-article

Comparison of the ABC and ACMG systems for variant classification

Jan 2024

Published by

European Journal of Human Genetics

Summary

journal-article

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

Jan 2024

Published by

Clinical Case Reports

Summary

journal-article

Endothelial Differentiation of CCM1 Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature

Jan 2023

Published by

International Journal of Molecular Sciences

Summary

journal-article

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

Jan 2022

Published by

Frontiers in Molecular Biosciences

Summary

journal-article

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

Jan 2022

Published by

Science translational medicine

Summary

journal-article

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

Jan 2022

Published by

Science Translational Medicine

Summary

journal-article

Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes.

Jan 2022

Published by

International journal of molecular sciences

Summary

journal-article

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

Jan 2022

Published by

Cellular and Molecular Life Sciences

Summary

journal-article

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

Jan 2022

Published by

Cellular and Molecular Life Sciences

Summary

journal-article

Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes

Jan 2022

Published by

International Journal of Molecular Sciences

Summary

journal-article

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

Jan 2022

Published by

Healthcare (Basel, Switzerland)

Summary

journal-article

Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania

Jan 2022

Published by

Healthcare

Summary

journal-article

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

Jan 2022

Published by

Frontiers in molecular biosciences

Summary

journal-article

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

Jan 2022

Published by

Neurosurgical Review

Summary

journal-article

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

Jan 2021

Published by

Frontiers in Molecular Biosciences

Summary

journal-article

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

Jan 2021

Published by

Neurosurgical review

Summary

journal-article

Cellular models of genetic diseases

Jan 2021

Published by

Medizinische Genetik

Summary

journal-article

Long-Term Outcome and Quality of Life After Cavernoma Resection: Eloquent vs. Non-Eloquent Areas.

Jan 2021

Summary

preprint

Bringing CCM into a dish: cell culture models for cerebral cavernous malformations

Jan 2021

Published by

Medizinische Genetik

Summary

journal-article

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

Jan 2021

Published by

Frontiers in molecular biosciences

Summary

journal-article

Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations.

Jan 2020

Published by

European journal of dermatology : EJD

Summary

journal-article

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

Jan 2020

Published by

European journal of human genetics : EJHG

Summary

journal-article

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

Jan 2020

Published by

European journal of human genetics : EJHG

Summary

journal-article

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

Jan 2020

Published by

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

Summary

journal-article

Fibronectin Rescues Aberrant Phenotype of Endothelial Cells Lacking Either CCM1, CCM2 Or CCM3

Jan 2020

Published by

The FASEB Journal

Summary

journal-article

First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations.

Jan 2020

Published by

Scientific reports

Summary

journal-article

First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations

Jan 2020

Published by

Scientific Reports

Summary

journal-article

Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations

Jan 2020

Published by

European Journal of Dermatology

Summary

journal-article

CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM Disease.

Jan 2020

Published by

Methods in molecular biology (Clifton, N.J.)

Summary

journal-article

CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM Disease

Jan 2020

Published by

Methods in Molecular Biology

Summary

journal-article

Identification and characterization of a GLMN splice site variant in a three-generation-family with glomuvenous malformations

Jan 2020

Published by

European Journal of Human Genetics

Summary

journal-article

Structural genome variations in cerebral cavernous malformations

Jan 2020

Published by

European Journal of Human Genetics

Summary

journal-article

Postzygotic mosaicism in cerebral cavernous malformation

Jan 2020

Published by

Journal of Medical Genetics

Summary

journal-article

Postzygotic mosaicism in cerebral cavernous malformation

Jan 2020

Published by

Journal of Medical Genetics

Summary

journal-article

Postzygotic mosaicism in cerebral cavernous malformation.

Jan 2019

Published by

Journal of medical genetics

Summary

journal-article

Precise CCM1 gene correction and inactivation in patient-derived endothelial cells: Modeling Knudson's two-hit hypothesis in vitro.

Jan 2019

Published by

Molecular genetics & genomic medicine

Summary

journal-article

Precise CCM1 gene correction and inactivation in patient-derived endothelial cells: Modeling Knudson's two-hit hypothesis in vitro

Jan 2019

Published by

Molecular Genetics & Genomic Medicine

Summary

journal-article

Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations.

Jan 2019

Published by

Journal of the neurological sciences

Summary

journal-article

Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations

Jan 2019

Published by

Journal of the Neurological Sciences

Summary

journal-article

A mouse model for intellectual disability caused by mutations in the X-linked 2′-O-methyltransferase Ftsj1 gene

Jan 2019

Published by

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Summary

journal-article

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing

Jan 2019

Published by

American Journal of Medical Genetics Part A

Summary

journal-article

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing

Jan 2019

Published by

American Journal of Medical Genetics Part A

Summary

journal-article

Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening

Jan 2019

Published by

Journal of Cellular and Molecular Medicine

Summary

journal-article

Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening

Jan 2019

Published by

Journal of Cellular and Molecular Medicine

Summary

journal-article

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.

Jan 2019

Published by

Frontiers in neurology

Summary

journal-article

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Jan 2019

Published by

Frontiers in Neurology

Summary

journal-article

Diagnostic Single Gene Analyses Beyond Sanger Economic high-throughput sequencing of small genes involved in congenital coagulation and platelet disorders

Jan 2018

Published by

Hamostaseologie

Summary

journal-article

Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.

Jan 2018

Published by

Molecular syndromology

Summary

journal-article

Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling

Jan 2018

Published by

Molecular Syndromology

Summary

journal-article

Diagnostic Single Gene Analyses Beyond Sanger.

Jan 2018

Published by

Hamostaseologie

Summary

journal-article

Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening.

Jan 2018

Published by

Journal of cellular and molecular medicine

Summary

journal-article

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.

Jan 2018

Published by

American journal of medical genetics. Part A

Summary

journal-article

High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations

Jan 2017

Published by

European Journal of Medical Genetics

Summary

journal-article

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

Jan 2017

Published by

Molecular Genetics & Genomic Medicine

Summary

journal-article

Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI

Jan 2017

Published by

Journal of Neurosurgery

Summary

journal-article

First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.

Jan 2017

Published by

Neurogenetics

Summary

journal-article

Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease.

Jan 2017

Published by

Journal of the neurological sciences

Summary

journal-article

Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease

Jan 2017

Published by

Journal of the Neurological Sciences

Summary

journal-article

High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.

Jan 2017

Published by

European journal of medical genetics

Summary

journal-article

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.

Jan 2016

Published by

Molecular syndromology

Summary

journal-article

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

Jan 2016

Published by

Molecular genetics & genomic medicine

Summary

journal-article

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations

Jan 2016

Published by

Molecular Syndromology

Summary

journal-article

Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI.

Jan 2016

Published by

Journal of neurosurgery

Summary

journal-article

Cystic fibrosis. Screening of neonates and mutation-specific therapy approaches

Jan 2016

Published by

Medizinische Genetik

Summary

journal-article

Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies.

Jan 2015

Published by

Hamostaseologie

Summary

journal-article

Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas

Jan 2015

Published by

Clinical Neurology and Neurosurgery

Summary

journal-article

Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies

Jan 2015

Published by

Hamostaseologie

Summary

journal-article

Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas.

Jan 2014

Published by

Clinical neurology and neurosurgery

Summary

journal-article

Birth defects after incestuous mating: calculating the probability of causality and reflecting on the desirability of genetic testing.

Jan 2013

Published by

European journal of medical genetics

Summary

journal-article

Birth defects after incestuous mating: Calculating the probability of causality and reflecting on the desirability of genetic testing

Jan 2013

Published by

European Journal of Medical Genetics

Summary

journal-article

Foxp3+ Regulatory T Cells Are Required for Recovery from Severe Sepsis

Jan 2013

Published by

Plos One

Summary

journal-article

Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) improves the innate immune response and enhances survival in murine polymicrobial sepsis

Jan 2010

Published by

Critical Care Medicine

Summary

journal-article

Matthias Rath

Work

MSH Medical School Hamburg University of Applied Sciences and Medical University

Universitätsmedizin Greifswald

Helios Kliniken Schwerin

Education

Universitätsmedizin Greifswald

Publications

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

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

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

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

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

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

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

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

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

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.

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.

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

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.

Cellular models of genetic diseases

Long-Term Outcome and Quality of Life After Cavernoma Resection: Eloquent vs. Non-Eloquent Areas.

Bringing CCM into a dish: cell culture models for cerebral cavernous malformations

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

Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations.

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

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

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

Fibronectin Rescues Aberrant Phenotype of Endothelial Cells Lacking Either CCM1, CCM2 Or CCM3

First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations.

First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations

Identification and characterization of a <i>GLMN</i> splice site variant in a family with glomuvenous malformations

CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM Disease.

CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM Disease

Identification and characterization of a <i>GLMN</i> splice site variant in a three-generation-family with glomuvenous malformations

Structural genome variations in cerebral cavernous malformations

Postzygotic mosaicism in cerebral cavernous malformation

Postzygotic mosaicism in cerebral cavernous malformation

Postzygotic mosaicism in cerebral cavernous malformation.

Precise CCM1 gene correction and inactivation in patient-derived endothelial cells: Modeling Knudson's two-hit hypothesis in vitro.

Precise <i>CCM1</i> gene correction and inactivation in patient-derived endothelial cells: Modeling Knudson's two-hit hypothesis in vitro

Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations.

Exome sequencing identifies a recurrent <i>SOX2</i> deletion in a patient with gait ataxia and dystonia lacking major ocular malformations

A mouse model for intellectual disability caused by mutations in the X-linked 2′-<i>O</i>-methyltransferase <i>Ftsj1</i> gene

Identification of pathogenic <i>YY1AP1</i> splice variants in siblings with Grange syndrome by whole exome sequencing

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing

Biallelic <i>CCM3</i> mutations cause a clonogenic survival advantage and endothelial cell stiffening

Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.

Novel Pathogenic Variants in a Cassette Exon of <i>CCM2</i> in Patients With Cerebral Cavernous Malformations

Diagnostic Single Gene Analyses Beyond Sanger Economic high-throughput sequencing of small genes involved in congenital coagulation and platelet disorders

Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.

Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling

Diagnostic Single Gene Analyses Beyond Sanger.

Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening.

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.

High-throughput sequencing of the entire genomic regions of <i>CCM1</i>/<i>KRIT1</i>, <i>CCM2</i> and <i>CCM3</i>/<i>PDCD10</i> to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI

First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.

Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease.

Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease

High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

<i>FAM222B</i> Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations

Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI.

Cystic fibrosis. Screening of neonates and mutation-specific therapy approaches

Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies.

Highly variable intrafamilial manifestations of a <i>CCM3</i> mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas

Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies

Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas.

Birth defects after incestuous mating: calculating the probability of causality and reflecting on the desirability of genetic testing.

Birth defects after incestuous mating: Calculating the probability of causality and reflecting on the desirability of genetic testing

Foxp3<SUP>+</SUP> Regulatory T Cells Are Required for Recovery from Severe Sepsis