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Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. Puffenberger EG, et al. PLoS One. 2012;7(1):e28936. doi: 10.1371/journal.pone.0028936. Epub 2012 Jan 17. PLoS One. 2012. PMID: 22279524 Free PMC article.
One community's effort to control genetic disease.
Strauss KA, Puffenberger EG, Morton DH. Strauss KA, et al. Among authors: puffenberger eg. Am J Public Health. 2012 Jul;102(7):1300-6. doi: 10.2105/AJPH.2011.300569. Epub 2012 May 17. Am J Public Health. 2012. PMID: 22594747 Free PMC article.
Genetics, medicine, and the Plain people.
Strauss KA, Puffenberger EG. Strauss KA, et al. Among authors: puffenberger eg. Annu Rev Genomics Hum Genet. 2009;10:513-36. doi: 10.1146/annurev-genom-082908-150040. Annu Rev Genomics Hum Genet. 2009. PMID: 19630565 Review.
Type I glutaric aciduria, part 1: natural history of 77 patients.
Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Strauss KA, et al. Among authors: puffenberger eg. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):38-52. doi: 10.1002/ajmg.c.20007. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888985
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.
Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, Stephan DA. Puffenberger EG, et al. Proc Natl Acad Sci U S A. 2004 Aug 10;101(32):11689-94. doi: 10.1073/pnas.0401194101. Epub 2004 Jul 23. Proc Natl Acad Sci U S A. 2004. PMID: 15273283 Free PMC article.
90 results