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Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Among authors: austin sl. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
Liver transplantation for glycogen storage disease type Ia.
Reddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM, Smith AD, Kishnani PS. Reddy SK, et al. Among authors: austin sl. J Hepatol. 2009 Sep;51(3):483-90. doi: 10.1016/j.jhep.2009.05.026. Epub 2009 Jun 17. J Hepatol. 2009. PMID: 19596478
Hypovitaminosis D in glycogen storage disease type I.
Banugaria SG, Austin SL, Boney A, Weber TJ, Kishnani PS. Banugaria SG, et al. Among authors: austin sl. Mol Genet Metab. 2010 Apr;99(4):434-7. doi: 10.1016/j.ymgme.2009.12.012. Epub 2009 Dec 21. Mol Genet Metab. 2010. PMID: 20060350
Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG. Kishnani PS, et al. Among authors: austin sl. Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. Genet Med. 2010. PMID: 20631546 Free article.
65 results