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Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study.
Rousseau F, Langlois S, Johnson JA, Gekas J, Bujold E, Audibert F, Walker M, Giroux S, Caron A, Clément V, Blais J, MacLeod T, Moore R, Gauthier J, Jouan L, Laporte A, Diallo O, Parker J, Swanson L, Zhao Y, Labelle Y, Giguère Y, Forest JC, Little J, Karsan A, Rouleau G. Rousseau F, et al. Among authors: zhao y. Eur J Hum Genet. 2019 Nov;27(11):1701-1715. doi: 10.1038/s41431-019-0443-0. Epub 2019 Jun 23. Eur J Hum Genet. 2019. PMID: 31231136 Free PMC article.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. McLarren KW, et al. Among authors: zhao y. Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004. Am J Hum Genet. 2010. PMID: 21129721 Free PMC article.
Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers.
Yip S, Butterfield YS, Morozova O, Chittaranjan S, Blough MD, An J, Birol I, Chesnelong C, Chiu R, Chuah E, Corbett R, Docking R, Firme M, Hirst M, Jackman S, Karsan A, Li H, Louis DN, Maslova A, Moore R, Moradian A, Mungall KL, Perizzolo M, Qian J, Roldan G, Smith EE, Tamura-Wells J, Thiessen N, Varhol R, Weiss S, Wu W, Young S, Zhao Y, Mungall AJ, Jones SJ, Morin GB, Chan JA, Cairncross JG, Marra MA. Yip S, et al. Among authors: zhao y. J Pathol. 2012 Jan;226(1):7-16. doi: 10.1002/path.2995. Epub 2011 Nov 10. J Pathol. 2012. PMID: 22072542 Free PMC article.
Barnacle: detecting and characterizing tandem duplications and fusions in transcriptome assemblies.
Swanson L, Robertson G, Mungall KL, Butterfield YS, Chiu R, Corbett RD, Docking TR, Hogge D, Jackman SD, Moore RA, Mungall AJ, Nip KM, Parker JD, Qian JQ, Raymond A, Sung S, Tam A, Thiessen N, Varhol R, Wang S, Yorukoglu D, Zhao Y, Hoodless PA, Sahinalp SC, Karsan A, Birol I. Swanson L, et al. Among authors: zhao y. BMC Genomics. 2013 Aug 14;14:550. doi: 10.1186/1471-2164-14-550. BMC Genomics. 2013. PMID: 23941359 Free PMC article.
Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.
Thibodeau ML, Reisle C, Zhao E, Martin LA, Alwelaie Y, Mungall KL, Ch'ng C, Thomas R, Ng T, Yip S, J Lim H, Sun S, Young SS, Karsan A, Zhao Y, Mungall AJ, Moore RA, J Renouf D, Gelmon K, Ma YP, Hayes M, Laskin J, Marra MA, Schrader KA, Jones SJM. Thibodeau ML, et al. Among authors: zhao y, zhao e. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001628. doi: 10.1101/mcs.a001628. Print 2017 Sep. Cold Spring Harb Mol Case Stud. 2017. PMID: 28514723 Free PMC article.
Automated high throughput nucleic acid purification from formalin-fixed paraffin-embedded tissue samples for next generation sequence analysis.
Haile S, Pandoh P, McDonald H, Corbett RD, Tsao P, Kirk H, MacLeod T, Jones M, Bilobram S, Brooks D, Smailus D, Steidl C, Scott DW, Bala M, Hirst M, Miller D, Moore RA, Mungall AJ, Coope RJ, Ma Y, Zhao Y, Holt RA, Jones SJ, Marra MA. Haile S, et al. Among authors: zhao y. PLoS One. 2017 Jun 1;12(6):e0178706. doi: 10.1371/journal.pone.0178706. eCollection 2017. PLoS One. 2017. PMID: 28570594 Free PMC article.
Increasing quality, throughput and speed of sample preparation for strand-specific messenger RNA sequencing.
Haile S, Corbett RD, MacLeod T, Bilobram S, Smailus D, Tsao P, Kirk H, McDonald H, Pandoh P, Bala M, Hirst M, Miller D, Moore RA, Mungall AJ, Schein J, Coope RJ, Ma Y, Zhao Y, Holt RA, Jones SJ, Marra MA. Haile S, et al. Among authors: zhao y. BMC Genomics. 2017 Jul 5;18(1):515. doi: 10.1186/s12864-017-3900-6. BMC Genomics. 2017. PMID: 28679365 Free PMC article.
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