Mäher, Eamonn Richard

Top Publications

Top Publications Authored or Co-Authored by "Mäher, Eamonn Richard"

• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Nature Genetics, Volume 43, No. 3, Year 2011, Citations 348
• The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

  Nature Genetics, Volume 38, No. 2, Year 2006, Citations 286
• Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: An analysis from the CAPP2 randomised controlled trial

  The Lancet, Volume 378, No. 9809, Year 2011, Citations 265
• Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

  Nature Genetics, Volume 37, No. 3, Year 2005, Citations 222
• Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

  Nature Communications, Volume 7, Article 11601, Year 2016, Citations 212