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Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories.
Wright DC, Adayapalam N, Bain N, Bain SM, Brown A, Buzzacott N, Carey L, Cross J, Dun K, Joy C, McCarthy C, Moore S, Murch AR, O'Malley F, Parker E, Watt J, Wilkin H, Fagan K, Pertile MD, Peters GB. Wright DC, et al. Among authors: pertile md. Pathology. 2016 Oct;48(6):586-96. doi: 10.1016/j.pathol.2016.05.009. Epub 2016 Aug 26. Pathology. 2016. PMID: 27575971
Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?
Ganesamoorthy D, Bruno DL, McGillivray G, Norris F, White SM, Adroub S, Amor DJ, Yeung A, Oertel R, Pertile MD, Ngo C, Arvaj AR, Walker S, Charan P, Palma-Dias R, Woodrow N, Slater HR. Ganesamoorthy D, et al. Among authors: pertile md. BJOG. 2013 Apr;120(5):594-606. doi: 10.1111/1471-0528.12150. Epub 2013 Jan 18. BJOG. 2013. PMID: 23332022
Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study.
Halliday JL, Muller C, Charles T, Norris F, Kennedy J, Lewis S, Meiser B, Donath S, Stark Z, McGillivray G, Menezes M, Smith SK, Forster D, Walker S, Pertile M, Amor DJ. Halliday JL, et al. Eur J Hum Genet. 2018 Apr;26(4):485-494. doi: 10.1038/s41431-017-0084-0. Epub 2018 Feb 6. Eur J Hum Genet. 2018. PMID: 29410473 Free PMC article.
Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study.
Hui L, Pynaker C, Bonacquisto L, Lindquist A, Poulton A, Kluckow E, Hutchinson B, Norris F, Pertile MD, Gugasyan L, Kulkarni A, Harraway J, Howden A, McCoy R, da Silva Costa F, Menezes M, Palma-Dias R, Nisbet D, Martin N, Bethune M, Poulakis Z, Halliday J. Hui L, et al. Among authors: pertile md. Am J Obstet Gynecol. 2021 Nov;225(5):527.e1-527.e12. doi: 10.1016/j.ajog.2021.03.050. Epub 2021 May 3. Am J Obstet Gynecol. 2021. PMID: 33957116
57 results