Sheridan, Eamonn G.

Top Publications

Top Publications Authored or Co-Authored by "Sheridan, Eamonn G."

• Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

  New England Journal of Medicine, Volume 360, No. 19, Year 2009, Citations 501
• Mutations causing familial biparental hydatidiform mole implicate C6orf221 as a possible regulator of genomic imprinting in the human oocyte

  American Journal of Human Genetics, Volume 89, No. 3, Year 2011, Citations 213
• ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

  American Journal of Human Genetics, Volume 93, No. 2, Year 2013, Citations 179
• Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

  Nature Genetics, Volume 44, No. 5, Year 2012, Citations 159
• Loss-of-function mutations in TBC1d20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

  American Journal of Human Genetics, Volume 93, No. 6, Year 2013, Citations 119