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Page 1
Gene selection for genomic newborn screening: Moving toward consensus?
Downie L, Bouffler SE, Amor DJ, Christodoulou J, Yeung A, Horton AE, Macciocca I, Archibald AD, Wall M, Caruana J, Lunke S, Stark Z. Downie L, et al. Among authors: archibald ad. Genet Med. 2024 May;26(5):101077. doi: 10.1016/j.gim.2024.101077. Epub 2024 Jan 23. Genet Med. 2024. PMID: 38275146
Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.
Metcalfe SA, Martyn M, Ames A, Anderson V, Archibald AD, Couns GDG, Carter R, Cohen J, Cotter M, GenCouns M, Dang W, Delatycki MB, Donath S, Edwards S, Educ PD, Couns GDG, Forbes R, Couns GDG, Gavrila M, MedSci M, Halliday J, Hickerton C, Hill M, Couns GDG, Jacobs L, Ultrasound PD, Petrou V, Couns GDG, Plunkett L, GenCouns M, Sheffield L, Racp F, Thornton A, Couns GDG, Younie S, Econ PDH, Emery JD. Metcalfe SA, et al. Among authors: archibald ad. Genet Med. 2017 Dec;19(12):1346-1355. doi: 10.1038/gim.2017.67. Epub 2017 Jun 29. Genet Med. 2017. PMID: 28661491 Free article.
Fragile X population carrier screening.
Metcalfe SA, Delatycki MB, Cohen J, Archibald AD, Emery JD. Metcalfe SA, et al. Among authors: archibald ad. Genet Med. 2018 Sep;20(9):1091-1092. doi: 10.1038/gim.2017.209. Genet Med. 2018. PMID: 29215647 Free article. No abstract available.
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. 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.
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. Genet Med. 2018 Nov;20(11):1485. doi: 10.1038/gim.2017.266. Genet Med. 2018. PMID: 29388943 Free article.
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.
Kraan CM, Bui QM, Field M, Archibald AD, Metcalfe SA, Christie LM, Bennetts BH, Oertel R, Smith MJ, du Sart D, Bruno D, Wotton TL, Amor DJ, Francis D, Godler DE. Kraan CM, et al. Among authors: archibald ad. Genet Med. 2018 Dec;20(12):1627-1634. doi: 10.1038/gim.2018.52. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595813 Free article.
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, Roscioli T, Amor DJ, Bakshi M, Chung CWT, Colley A, Jamieson RV, Liebelt J, Ma A, Pachter N, Rajagopalan S, Ravine A, Wilson M, Caruana J, Casella R, Davis M, Edwards S, Archibald A, McGaughran J, Newson AJ, Laing NG, Delatycki MB. Kirk EP, et al. Eur J Hum Genet. 2021 Jan;29(1):79-87. doi: 10.1038/s41431-020-0685-x. Epub 2020 Jul 16. Eur J Hum Genet. 2021. PMID: 32678339 Free PMC article.
56 results