Christian Kubisch

Albert Einstein Allee 11
Ulm, BW 89081, Germany

Last Updated: 09/26/2026

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Found 146 publications

Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.

Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.

Journal: Molecular metabolism

Published: May 13, 2026

Time dependent outcomes modeling in a real-world analysis of the molecular tumor board at University Cancer Center Hamburg (2016-2022).

Time dependent outcomes modeling in a real-world analysis of the molecular tumor board at University Cancer Center Hamburg (2016-2022).

Journal: The oncologist

Published: November 05, 2025

A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling.

A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling.

Journal: Human genetics

Published: October 07, 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

Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2.

Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2.

Journal: Circulation. Genomic and precision medicine

Published: May 23, 2025

Genetic testing in thoracic aortic disease: diagnostic performance of the 2024 ESC algorithm.

Genetic testing in thoracic aortic disease: diagnostic performance of the 2024 ESC algorithm.

Journal: European heart journal

Published: April 11, 2025

Homozygous DBX1 Nonsense Variant in a Case of Atypical Congenital Central Hypoventilation.

Homozygous DBX1 Nonsense Variant in a Case of Atypical Congenital Central Hypoventilation.

Journal: Neurology. Genetics

Published: February 24, 2025

Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.

Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.

Journal: JCI insight

Published: September 24, 2024

Germline mutations in a G protein identify signaling cross-talk in T cells.

Germline mutations in a G protein identify signaling cross-talk in T cells.

Journal: Science (New York, N.Y.)

Published: September 19, 2024

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

Journal: The Journal of clinical investigation

Published: August 23, 2024

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Journal: American journal of human genetics

Published: July 24, 2024

Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death.

Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death.

Journal: The Journal of thoracic and cardiovascular surgery

Published: May 17, 2024

Showing 1-12 of 146

Last Updated: 09/26/2026