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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Williams KB, et al. Among authors: strauss ka. Hum Mol Genet. 2019 Feb 15;28(4):525-538. doi: 10.1093/hmg/ddy344. Hum Mol Genet. 2019. PMID: 30304524 Free PMC article.
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. Among authors: strauss ka. 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.
Elective liver transplantation for the treatment of classical maple syrup urine disease.
Strauss KA, Mazariegos GV, Sindhi R, Squires R, Finegold DN, Vockley G, Robinson DL, Hendrickson C, Virji M, Cropcho L, Puffenberger EG, McGhee W, Seward LM, Morton DH. Strauss KA, et al. Am J Transplant. 2006 Mar;6(3):557-64. doi: 10.1111/j.1600-6143.2005.01209.x. Am J Transplant. 2006. PMID: 16468966 Free article.
125 results