Klaus Brusgaard
5PUBLICATIONS
32CO-AUTHORS
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Publications (5)
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|Jan 13, 2026
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.Claudia M Bonardi, Rikke S Møller, Nuria Ruiz-Reig
|Oct 30, 2025
Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.Pernille Darre Haahr, Qin Hao, Klaus Brusgaard
|Aug 02, 2022
Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease.Simone Rask Nielsen, Stinus Gadegaard Hansen, Claus Bistrup
|Jun 24, 2021
Cohort profile and heritability assessment of familial pancreatic cancer: a nation-wide study.Ming Tan, Klaus Brusgaard, Anne-Marie Gerdes
|Jun 12, 2021
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.Anne Benner, Yazeid Alhaidan, Matthew A Lines
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Frequent Collaborators
2 joint publications
Anja Lisbeth Frederiksen
1 joint publications
Anne Benner
1 joint publications
Yazeid Alhaidan
1 joint publications
Matthew A Lines
1 joint publications
Diva D De Leon
1 joint publications
Henrik T Christesen
1 joint publications
Ming Tan
1 joint publications
Michael Bau Mortensen
1 joint publications
Sönke Detlefsen
1 joint publications
Ove B Schaffalitzky de Muckadell
