Christian Kubisch

Universität Hamburg — Germany

Medicine · Health Sciences

73h-index22.1kcitations325works5.92yr avg
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Research Topics

Migraine and Headache Studies(46), Genomics and Rare Diseases(27), Ion channel regulation and function(24), RNA Research and Splicing(24), Neuroscience of respiration and sleep(22)

Publications316 total

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection
Journal of Clinical Investigation·2025Open Access
Homozygous <i>DBX1</i> Nonsense Variant in a Case of Atypical Congenital Central Hypoventilation
Neurology Genetics·2025· 1 citedOpen Access
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Nature Genetics·2025Open Access
TXNIP is a critical regulator of human cardiometabolic health
2025· 1 citedOpen Access
Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of <i>FBN2</i>
Circulation Genomic and Precision Medicine·2025· 2 cited
Diagnosing migraine from genome-wide genotype data: a machine learning analysis
Brain·2025· 1 citedOpen Access
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
UNC Libraries·2025Open Access
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
The American Journal of Human Genetics·2025· 3 citedOpen Access
Genetik und genetische Untersuchungsmethoden
2025
Thoracic Aortic Disease in Patients with Heterozygous Variants Outside the Central Region of FBN2
The Thoracic and Cardiovascular Surgeon·2025
Germline mutations in a G protein identify signaling cross-talk in T cells
Science·2024· 19 citedOpen Access
Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death
Journal of Thoracic and Cardiovascular Surgery·2024· 4 citedOpen Access
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Nature Genetics·2024· 34 citedOpen Access
HMG-CoA reductase is a potential therapeutic target for migraine: a mendelian randomization study
Scientific Reports·2024· 5 citedOpen Access
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
The American Journal of Human Genetics·2024· 3 citedOpen Access
Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death
2024Open Access
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias
Clinical Genetics·2024· 2 citedOpen Access
Author response for "Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias"
2024
Stand der humangenetischen Versorgung in der Pädiatrie
Pädiatrie·2024
Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use
Nature Communications·2024· 49 citedOpen Access
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Frequent Co-authors

Guntram Borck(10), Verneri Anttila(9), Mikko Kallela(9), Peter Nürnberg(9), Tobias Freilinger(8), Michel D. Ferrari(8), Alexander E. Volk(8), Davor Lessel(8), Thomas J. Jentsch(7), Gisela M. Terwindt(7), Mari Kaunisto(7), Eija Hämäläinen(7), Jaakko Kaprio(7), Martin Dichgans(7), Maija Wessman(7), Arn M. J. M. van den Maagdenberg(7), Alfredo Ramı́rez(6), Terho Lehtimäki(6), Martti Färkkilâ(6), Ville Artto(6)