Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
Bruno, D L, White, S M, Ganesamoorthy, D, Burgess, T, Butler, K, Corrie, S, Francis, D, Hills, L, Prabhakara, K, Ngo, C, Norris, F, Oertel, R, Pertile, M D, Stark, Z, Amor, D J, Slater, H R
Published in Journal of medical genetics (01.12.2011)
Published in Journal of medical genetics (01.12.2011)
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Journal Article
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
Published in BJOG : an international journal of obstetrics and gynaecology (01.04.2013)
Published in BJOG : an international journal of obstetrics and gynaecology (01.04.2013)
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Journal Article
Methylation of the adenomatous polyposis coli (APC) gene in human placenta and hypermethylation in choriocarcinoma cells
Wong, N.C, Novakovic, B, Weinrich, B, Dewi, C, Andronikos, R, Sibson, M, Macrae, F, Morley, R, Pertile, M.D, Craig, J.M, Saffery, R
Published in Cancer letters (08.09.2008)
Published in Cancer letters (08.09.2008)
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Journal Article
A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation
Huq, A.J., MBBS, FRACP, Pertile, M.D., PhD, Davis, A.M., MD, Landon, H., BS, James, P.A., MBChB, FRACP, PhD, Kline, C.F., PhD, Vohra, J., MD, FRACP, FRCP (UK), FACC, FCSANZ, Mohler, P.J., PhD, Delatycki, M.B., FRACP, PhD
Published in Heart, lung & circulation (01.06.2017)
Published in Heart, lung & circulation (01.06.2017)
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State‐wide utilization and performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study
Lindquist, A., Hui, L., Poulton, A., Kluckow, E., Hutchinson, B., Pertile, M. D., Bonacquisto, L., 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.
Published in Ultrasound in obstetrics & gynecology (01.08.2020)
Published in Ultrasound in obstetrics & gynecology (01.08.2020)
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Abstracts of the 29th World Congress on Ultrasound in Obstetrics and Gynecology, 12-16 October 2019, Berlin, Germany
Hui, L, Lindquist, A, Poulton, A, Kluckow, E, Hutchinson, B, Bonacquisto, L, Pertile, M D, Gugasyan, L, Kulkarni, A, Harraway, J, Howden, A, McCoy, R, da Silva Costa, F, Palma-Dias, R, Nisbet, D, Martin, N, Behune, M, Poulakis, Z, Halliday, J
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
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Journal Article
Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories
Wright, D.C., Adayapalam, N., Bain, N., Bain, S.M., Brown, A., Buzzacott, N., Carey, L., Cross, J., Dun, K., Joy, C., McCarthy, C., Moore, S., Murch, A.R., O'Malley, F., Parker, E., Watt, J., Wilkin, H., Fagan, K., Pertile, M.D., Peters, G.B.
Published in Pathology (01.10.2016)
Published in Pathology (01.10.2016)
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Journal Article
Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation
Delatycki, Martin B., Pertile, Mark D., Gardner, R. J. McKinlay
Published in Prenatal diagnosis (01.01.1998)
Published in Prenatal diagnosis (01.01.1998)
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OC02.02: Performance of a genome‐wide PCR‐free, paired‐end sequencing‐based non‐invasive prenatal screening test, VeriSeq NIPT Solution v2
Bhatt, S., Flowers, N., Vavrek, D., Meier, K., Kalista, T., Deciu, C., Duenwald, S., Pertile, M.D.
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
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Journal Article
OP08.07: Can whole‐genome sequencing assist in the detection of leimyosarcoma?
Chowdary, P., Cohen, P., Stone, K., Readman, E., Ellett, L., Pertile, M.D., Bruno, D., Tong, S., Maher, P.
Published in Ultrasound in obstetrics & gynecology (01.10.2018)
Published in Ultrasound in obstetrics & gynecology (01.10.2018)
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Journal Article
OC10.02: Detection rates of high grade serous ovarian cancers using a clinical non‐invasive prenatal testing platform: potential for ovarian cancer screening
Cohen, P., Flowers, N., Pertile, M.D., Hannan, N., Tong, S., Hui, L.
Published in Ultrasound in obstetrics & gynecology (01.09.2016)
Published in Ultrasound in obstetrics & gynecology (01.09.2016)
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OC06.04: Population‐based prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort
Hui, L., Poulton, A., Kluckow, E., Lindquist, A., Hutchinson, B., Pertile, M.D., Bonacquisto, L., 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.
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
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Journal Article
OC01.03: State‐wide performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study
Hui, L., Lindquist, A., Poulton, A., Kluckow, E., Hutchinson, B., Bonacquisto, L., Pertile, M.D., Gugasyan, L., Kulkarni, A., Harraway, J., Howden, A., McCoy, R., da Silva Costa, F., Palma‐Dias, R., Nisbet, D., Martin, N., Behune, M., Poulakis, Z., Halliday, J.
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
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Journal Article
Vitreomacular Adhesion and the Risk of Neovascular Age-Related Macular Degeneration
Maggio, Emilia, MD, Polito, Antonio, MD, Guerriero, Massimo, PhD, Prigione, Guido, MD, Parolini, Barbara, MD, Pertile, Grazia, MD
Published in Ophthalmology (Rochester, Minn.) (01.05.2017)
Published in Ophthalmology (Rochester, Minn.) (01.05.2017)
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Journal Article
Outcomes of liver resection at a low-volume center
Solari, N., MD, Pertile, D., MD, Bertoglio, S., MD, Cafiero, F., MD, Di Somma, C., MD
Published in European journal of surgical oncology (01.10.2012)
Published in European journal of surgical oncology (01.10.2012)
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Journal Article
Long-Term Results of Full Macular Translocation for Choroidal Neovascularization in Age-Related Macular Degeneration
van Romunde, Saskia H.M., MD, Polito, Antonio, MD, Bertazzi, Laura, MD, Guerriero, Massimo, PhD, Pertile, Grazia, MD
Published in Ophthalmology (Rochester, Minn.) (01.07.2015)
Published in Ophthalmology (Rochester, Minn.) (01.07.2015)
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Journal Article
Monozygotic twins with discordant karyotypes: a case report
O'Donnell, Colm P.F., Pertile, Mark D., Sheffield, Leslie J., Sampson, Amanda
Published in The Journal of pediatrics (01.09.2004)
Published in The Journal of pediatrics (01.09.2004)
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Journal Article
Prospective ranking of the sonographic markers for aneuploidy: Data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound
Daniel, Art, Athayde, Neil, Ogle, Robert, George, Alice M., Michael, Jonathan, Pertile, Mark d, Bryan, Jennifer, Jammu, Vapinder, Trudinger, Brian J.
Published in Australian & New Zealand journal of obstetrics & gynaecology (01.02.2003)
Published in Australian & New Zealand journal of obstetrics & gynaecology (01.02.2003)
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