Ralf Sudbrak
Global College(CY)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genomics and Chromatin Dynamics, Renal and related cancers, Genetic Associations and Epidemiology, Chromosomal and Genetic Variations
Most-Cited Works
- → Transcriptome and genome sequencing uncovers functional variation in humans(2013)2,164 cited
- → The DNA sequence of the human X chromosome(2005)1,159 cited
- → Demographic history and rare allele sharing among human populations(2011)724 cited
- A global reference for human genetic variation(2015)
- → Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry(2002)551 cited
- → A map of human genome variation from population-scale sequencing(2010)542 cited
- → Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure(2001)530 cited
- → Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin(2005)404 cited
- → Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis(2003)365 cited
- → DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects(2006)349 cited