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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: cowie s. Genet Med. 2018 Nov;20(11):1485. doi: 10.1038/gim.2017.266. Genet Med. 2018. PMID: 29388943 Free article.
Population screening and cascade testing for carriers of SMA.
Smith M, Calabro V, Chong B, Gardiner N, Cowie S, du Sart D. Smith M, et al. Among authors: cowie s. Eur J Hum Genet. 2007 Jul;15(7):759-66. doi: 10.1038/sj.ejhg.5201821. Epub 2007 Mar 28. Eur J Hum Genet. 2007. PMID: 17392705
Premature arthritis is a distinct type II collagen phenotype.
Kannu P, Bateman JF, Randle S, Cowie S, du Sart D, McGrath S, Edwards M, Savarirayan R. Kannu P, et al. Among authors: cowie s. Arthritis Rheum. 2010 May;62(5):1421-30. doi: 10.1002/art.27354. Arthritis Rheum. 2010. PMID: 20131279 Free article.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, Yeung A, Peters H, Mordaunt D, Cowie S, Amor DJ, Savarirayan R, McGillivray G, Downie L, Ekert PG, Theda C, James PA, Yaplito-Lee J, Ryan MM, Leventer RJ, Creed E, Macciocca I, Bell KM, Oshlack A, Sadedin S, Georgeson P, Anderson C, Thorne N, Melbourne Genomics Health Alliance, Gaff C, White SM. Stark Z, et al. Among authors: cowie s. Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3. Genet Med. 2016. PMID: 26938784 Free article.
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, McDonald Z, Barns-Jenkins C, Holt C, Sandoval K, Siva Kumar V, 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: cowie s. Genet Med. 2018 Apr;20(5):513-523. doi: 10.1038/gim.2017.134. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261177 Free article.
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Rius R, Compton AG, Baker NL, Balasubramaniam S, Best S, Bhattacharya K, Boggs K, Boughtwood T, Braithwaite J, Bratkovic D, Bray A, Brion MJ, Burke J, Casauria S, Chong B, Coman D, Cowie S, Cowley M, de Silva MG, Delatycki MB, Edwards S, Ellaway C, Fahey MC, Finlay K, Fletcher J, Frajman LE, Frazier AE, Gayevskiy V, Ghaoui R, Goel H, Goranitis I, Haas M, Hock DH, Howting D, Jackson MR, Kava MP, Kemp M, King-Smith S, Lake NJ, Lamont PJ, Lee J, Long JC, MacShane M, Madelli EO, Martin EM, Marum JE, Mattiske T, McGill J, Metke A, Murray S, Panetta J, Phillips LK, Quinn MCJ, Ryan MT, Schenscher S, Simons C, Smith N, Stroud DA, Tchan MC, Tom M, Wallis M, Ware TL, Welch AE, Wools C, Wu Y, Christodoulou J, Thorburn DR. Rius R, et al. Among authors: cowie s. Genet Med. 2024 Sep 19:101271. doi: 10.1016/j.gim.2024.101271. Online ahead of print. Genet Med. 2024. PMID: 39305161
Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH.
Chow E, Lipton L, Lynch E, D'Souza R, Aragona C, Hodgkin L, Brown G, Winship I, Barker M, Buchanan D, Cowie S, Nasioulas S, du Sart D, Young J, Leggett B, Jass J, Macrae F. Chow E, et al. Among authors: cowie s. Gastroenterology. 2006 Jul;131(1):30-9. doi: 10.1053/j.gastro.2006.03.046. Gastroenterology. 2006. PMID: 16831587
Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.
Thiffault I, Hamel N, Pal T, McVety S, Marcus VA, Farber D, Cowie S, Deschênes J, Meschino W, Odefrey F, Goldgar D, Graham T, Narod S, Watters AK, MacNamara E, Du Sart D, Chong G, Foulkes WD. Thiffault I, et al. Among authors: cowie s. Br J Cancer. 2004 Jan 26;90(2):483-91. doi: 10.1038/sj.bjc.6601424. Br J Cancer. 2004. PMID: 14735197 Free PMC article.
93 results