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The SPRED1 Variants Repository for Legius Syndrome.
Sumner K, Crockett DK, Muram T, Mallempati K, Best H, Mao R. Sumner K, et al. G3 (Bethesda). 2011 Nov;1(6):451-6. doi: 10.1534/g3.111.000687. Epub 2011 Nov 1. G3 (Bethesda). 2011. PMID: 22384355 Free PMC article.
The Alport syndrome COL4A5 variant database.
Crockett DK, Pont-Kingdon G, Gedge F, Sumner K, Seamons R, Lyon E. Crockett DK, et al. Among authors: sumner k. Hum Mutat. 2010 Aug;31(8):E1652-7. doi: 10.1002/humu.21312. Hum Mutat. 2010. PMID: 20574986
Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.
Sumner K, Hubley L, Pont-Kingdon G, Mitchell S, Wayman T, Wilson A, Meadows C, Elenitoba-Johnson K, Pattison D, Dobrowolski S, Best H, Lyon E. Sumner K, et al. Genet Test Mol Biomarkers. 2012 Jul;16(7):656-60. doi: 10.1089/gtmb.2011.0204. Epub 2012 Feb 24. Genet Test Mol Biomarkers. 2012. PMID: 22364140
EIF2AK4 mutations in pulmonary capillary hemangiomatosis.
Best DH, Sumner KL, Austin ED, Chung WK, Brown LM, Borczuk AC, Rosenzweig EB, Bayrak-Toydemir P, Mao R, Cahill BC, Tazelaar HD, Leslie KO, Hemnes AR, Robbins IM, Elliott CG. Best DH, et al. Among authors: sumner kl. Chest. 2014 Feb;145(2):231-236. doi: 10.1378/chest.13-2366. Chest. 2014. PMID: 24135949 Free PMC article.
Molecular testing for adult type Alport syndrome.
Pont-Kingdon G, Sumner K, Gedge F, Miller C, Denison J, Gregory M, Lyon E. Pont-Kingdon G, et al. Among authors: sumner k. BMC Nephrol. 2009 Nov 17;10:38. doi: 10.1186/1471-2369-10-38. BMC Nephrol. 2009. PMID: 19919694 Free PMC article.
63 results