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Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, Barns-Jenkins C, Holt C, Sandoval K, Kumar VS, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ. Archibald AD, et al. Among authors: pertile md. Genet Med. 2018 Nov;20(11):1485. doi: 10.1038/gim.2017.266. Genet Med. 2018. PMID: 29388943 Free article.
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
Bruno DL, White SM, Ganesamoorthy D, Burgess T, Butler K, Corrie S, Francis D, Hills L, Prabhakara K, Ngo C, Norris F, Oertel R, Pertile MD, Stark Z, Amor DJ, Slater HR. Bruno DL, et al. Among authors: pertile md. J Med Genet. 2011 Dec;48(12):831-9. doi: 10.1136/jmedgenet-2011-100372. Epub 2011 Oct 29. J Med Genet. 2011. PMID: 22039585
Questionable pathogenicity of FOXG1 duplication.
Amor DJ, Burgess T, Tan TY, Pertile MD. Amor DJ, et al. Among authors: pertile md. Eur J Hum Genet. 2012 Jun;20(6):595-6; author reply 596-7. doi: 10.1038/ejhg.2011.267. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258524 Free PMC article. No abstract available.
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
Exceptional complex chromosomal rearrangements in three generations.
Kartapradja H, Marzuki NS, Pertile MD, Francis D, Suciati LP, Anggaratri HW, Ambarwati DD, Idris FP, Lesmana H, Trimarsanto H, Paramayuda C, Harahap AR. Kartapradja H, et al. Among authors: pertile md. Case Rep Genet. 2015;2015:321014. doi: 10.1155/2015/321014. Epub 2015 Feb 3. Case Rep Genet. 2015. PMID: 25722897 Free PMC article.
59 results