Dinu Antony
University of Freiburg(DE)University Medical Center Freiburg(DE)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Genetic Associations and Epidemiology, Renal and related cancers, Protist diversity and phylogeny
Most-Cited Works
- → Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel(2015)380 cited
- → Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport(2016)259 cited
- → An organelle-specific protein landscape identifies novel diseases and molecular mechanisms(2016)255 cited
- → Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia(2012)192 cited
- → Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms(2012)190 cited
- → Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia(2013)171 cited
- → X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3(2017)151 cited
- → Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement(2013)140 cited
- → Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease(2013)138 cited
- → Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects(2018)138 cited