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Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. Rope AF, et al. Among authors: moore b. Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21700266 Free PMC article.
A probabilistic disease-gene finder for personal genomes.
Yandell M, Huff C, Hu H, Singleton M, Moore B, Xing J, Jorde LB, Reese MG. Yandell M, et al. Among authors: moore b. Genome Res. 2011 Sep;21(9):1529-42. doi: 10.1101/gr.123158.111. Epub 2011 Jun 23. Genome Res. 2011. PMID: 21700766 Free PMC article.
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
Lyon GJ, Jiang T, Van Wijk R, Wang W, Bodily PM, Xing J, Tian L, Robison RJ, Clement M, Lin Y, Zhang P, Liu Y, Moore B, Glessner JT, Elia J, Reimherr F, van Solinge WW, Yandell M, Hakonarson H, Wang J, Johnson WE, Wei Z, Wang K. Lyon GJ, et al. Among authors: moore b. Discov Med. 2011 Jul;12(62):41-55. Discov Med. 2011. PMID: 21794208 Free PMC article.
3,628 results