Christian Kubisch

Full Professor and Chair

University Medical Center Hamburg-Eppendorf (UKE)

Germany

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Research Interests

Epidemiology

20%

Biostatistics

20%

Medical Science

80%

Osteogenesis Imperfecta

30%

Rare Disease

20%

Syndromic Disorders

20%

Homologous Recombination

10%

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Articles10

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

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Year:

2024

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

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Year:

2024

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

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Year:

2024

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use.

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Year:

2024

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2022

Collaborators9

Pär Ingemar Johansson

Professor

University of Copenhagen

DENMARK

Laura Southgate

Senior Lecturer in Genetics

St George’s, University of London

UNITED KINGDOM

Víctor J. Gallardo López

Collaborating Professor

Universitat de Girona

SPAIN

Thomas J. Jentsch

Professor / Research Group Leader

Leibniz-Forschungsinstitut für Molekulare Pharmakologie

GERMANY

Alexander E Volk

GERMANY

Tobias Stauber

Professor

MSH Medical School Hamburg University of Applied Sciences and Medical University

GERMANY

Nicola Strenzke

University Medical Center Göttingen

GERMANY

Alfredo Ramirez

University of Texas Health Science Center at San Antonio

UNITED STATES

Davor Lessel

University Medical Center Hamburg-Eppendorf

GERMANY

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