Research ExplorerScientific StaffGeorg Rosenberger

Dr. ID: 37508

Georg Rosenberger

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Affiliations
ORCID: 0000-0003-3625-3109

Publications

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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projects

Analysis of the pathophysiologic link between constitutional RAS pathway activation and epidermal findings in Costello syndrome

Project: Research

Inherited aortic disease: identification of novel disease genes and functional analysis of the molecular pathogenesis

Project: Research

F/02/13 Identifizierung neuer Krankheits

Project: Research

RO 3660/1-1 Identifizierung von Krankhei

Project: Research

Werner Otto Stiftung 42/77

Project: Research

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