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Mutations in the COL4A4 gene in thin basement membrane disease.
Buzza M, Dagher H, Wang YY, Wilson D, Babon JJ, Cotton RG, Savige J. Buzza M, et al. Among authors: cotton rg. Kidney Int. 2003 Feb;63(2):447-53. doi: 10.1046/j.1523-1755.2003.00780.x. Kidney Int. 2003. PMID: 12631110 Free article.
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.
International Alport Mutation Consortium; Savige J, Ars E, Cotton RG, Crockett D, Dagher H, Deltas C, Ding J, Flinter F, Pont-Kingdon G, Smaoui N, Torra R, Storey H. International Alport Mutation Consortium, et al. Among authors: cotton rg. Pediatr Nephrol. 2014 Jun;29(6):971-7. doi: 10.1007/s00467-013-2486-8. Epub 2013 May 30. Pediatr Nephrol. 2014. PMID: 23720012 Review.
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
Cotton RG, Al Aqeel AI, Al-Mulla F, Carrera P, Claustres M, Ekong R, Hyland VJ, Macrae FA, Marafie MJ, Paalman MH, Patrinos GP, Qi M, Ramesar RS, Scott RJ, Sijmons RH, Sobrido MJ, Vihinen M; members of the Human Variome Project Data Collection from Clinics, Data Collection from Laboratories and Publication, Credit and Incentives Working Groups. Cotton RG, et al. Genet Med. 2009 Dec;11(12):843-9. doi: 10.1097/GIM.0b013e3181c371c5. Genet Med. 2009. PMID: 20010362 Free article.
288 results