Christian Kubisch

Full Professor and Chair

University Medical Center Hamburg-Eppendorf (UKE)

Germany

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Christian Kubisch is a Full Professor and Chair at the University Medical Center Hamburg-Eppendorf (UKE) in Germany. His research primarily focuses on genetic implications in various disorders, including lysosomal storage diseases, neurodevelopmental disorders, and skeletal dysplasias. Recent publications highlight his work on gain-of-function variants, multi-gene sequencing in highly consanguineous families, and the genetic basis of conditions such as craniometadiaphyseal osteosclerosis and auditory neuropathy.

Articles (10)

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2024

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2024

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2024

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2024

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2023

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2023

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2023

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2023

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2023

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2022

Collaborators (10)

Pär Ingemar Johansson

Professor

University of Copenhagen

DENMARK

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Laura Southgate

Senior Lecturer in Genetics

St George’s, University of London

UNITED KINGDOM

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Víctor J. Gallardo López

Collaborating Professor

Universitat de Girona

SPAIN

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Thomas J. Jentsch

Professor / Research Group Leader

Leibniz-Forschungsinstitut für Molekulare Pharmakologie

GERMANY

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Alexander E Volk

GERMANY

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Tobias Stauber

Professor

MSH Medical School Hamburg University of Applied Sciences and Medical University

GERMANY

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Nicola Strenzke

University Medical Center Göttingen

GERMANY

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Alfredo Ramirez

University of Texas Health Science Center at San Antonio

UNITED STATES

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Davor Lessel

University Medical Center Hamburg-Eppendorf

GERMANY

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Markus Ries

Professor

UniversitätsKlinikum Heidelberg

GERMANY

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Christian Kubisch

Research Interests

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Articles (10)

Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use.

Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.

Multimodal characterization of dilated cardiomyopathy: Geno- And Phenotyping of PrImary Cardiomyopathy (GrAPHIC).

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study.

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.

Collaborators (10)

Pär Ingemar Johansson

Laura Southgate

Víctor J. Gallardo López

Thomas J. Jentsch

Alexander E Volk

Tobias Stauber

Nicola Strenzke

Alfredo Ramirez

Davor Lessel

Markus Ries

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