Karsten Häffner
Publications by Year
Research Areas
Complement system in diseases, Genetic and Kidney Cyst Diseases, Renal Diseases and Glomerulopathies, Renal and related cancers, Cystic Fibrosis Research Advances
Most-Cited Works
- → Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry(2002)551 cited
- → CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms(2012)249 cited
- → Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects(2009)215 cited
- → Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia(2014)194 cited
- → DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes(2016)163 cited
- → ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry(2013)160 cited
- → Homozygosity Mapping of a Gene Locus for Primary Ciliary Dyskinesia on Chromosome 5p and Identification of the Heavy Dynein Chain DNAH5 as a Candidate Gene(2000)123 cited
- → Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree(2000)111 cited
- → Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies(2017)105 cited
- → Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency(2021)85 cited