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2009 1
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59 results

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Page 1
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. Tassone F, et al. Among authors: archibald ad. Cells. 2023 Sep 21;12(18):2330. doi: 10.3390/cells12182330. Cells. 2023. PMID: 37759552 Free PMC article. Review.
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP, Delatycki MB, Archibald AD, Tutty E, Caruana J, Halliday JL, Lewis S, McClaren BJ, Newson AJ, Dive L, Best S, Long JC, Braithwaite J, Downes MJ, Scuffham PA, Massie J, Barlow-Stewart K, Kulkarni A, Ruscigno A, Kanga-Parabia A, Rodrigues B, Bennetts BH, Ebzery C, Hunt C, Cliffe CC, Lee C, Azmanov D, King EA, Madelli EO, Zhang F, Ho G, Danos I, Liebelt J, Fletcher J, Kennedy J, Beilby J, Emery JD, McGaughran J, Marum JE, Scarff K, Fisk K, Harrison K, Boggs K, Giameos L, Fitzgerald L, Thomas L, Burnett L, Freeman L, Harris M, Berbic M, Davis MR, Cifuentes Ochoa M, Wallis M, Wall M, Chow MTM, Ferrie MM, Pachter N, Quayum N, Lang N, Kasi Pandy P, Casella R, Allcock RJN, Ong R, Edwards S, Sundercombe S, Jelenich S, Righetti S, Lunke S, Kaur S, Stock-Myer S, Eggers S, Walker SP, Theodorou T, Catchpool T, Clinch T, Roscioli T, Hardy T, Zhu Y, Fehlberg Z, Boughtwood TF, Laing NG; Mackenzie’s Mission Investigators; Mackenzie's Mission Investigators. Kirk EP, et al. Among authors: archibald ad. N Engl J Med. 2024 Nov 21;391(20):1877-1889. doi: 10.1056/NEJMoa2314768. N Engl J Med. 2024. PMID: 39565987 Clinical Trial.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: archibald ad. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy.
Kirk E, Mundy L, Lee E, Lundie B, Laing N, Archibald AD, Newson AJ, Mina K, Carpenter K, Neas K, King R, Ferrie M, Lunke S, Boughtwood T, Delatycki MB, Emery J, Mountain H, Hui L, Dive L, Farrar MA, Massie J. Kirk E, et al. Among authors: archibald ad. Pathology. 2025 Aug;57(5):539-545. doi: 10.1016/j.pathol.2025.02.004. Epub 2025 Mar 26. Pathology. 2025. PMID: 40318963 No abstract available.
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.
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 Free article.
59 results