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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. Among authors: caruana j. 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.
Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al.
Righetti S, Dive L, Archibald AD, Freeman L, McClaren B, Kanga-Parabia A, Delatycki MB, Laing NG, Kirk EP, Newson AJ; counselling, psycho-social, and implementation science teams at Mackenzie’s Mission and the Gene Selection Committee. Righetti S, et al. Genet Med. 2022 May;24(5):1158-1161. doi: 10.1016/j.gim.2022.01.007. Epub 2022 Feb 12. Genet Med. 2022. PMID: 35168887 Free article. No abstract available.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
Archibald AD, McClaren BJ, Caruana J, Tutty E, King EA, Halliday JL, Best S, Kanga-Parabia A, Bennetts BH, Cliffe CC, Madelli EO, Ho G, Liebelt J, Long JC, Braithwaite J, Kennedy J, Massie J, Emery JD, McGaughran J, Marum JE, Boggs K, Barlow-Stewart K, Burnett L, Dive L, Freeman L, Davis MR, Downes MJ, Wallis M, Ferrie MM, Pachter N, Scuffham PA, Casella R, Allcock RJN, Ong R, Edwards S, Righetti S, Lunke S, Lewis S, Walker SP, Boughtwood TF, Hardy T, Newson AJ, Kirk EP, Laing NG, Delatycki MB, The Mackenzie's Mission Study Team. Archibald AD, et al. Among authors: caruana j. J Pers Med. 2022 Oct 28;12(11):1781. doi: 10.3390/jpm12111781. J Pers Med. 2022. PMID: 36579509 Free PMC article.
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: caruana j. Genet Med. 2024 May;26(5):101077. doi: 10.1016/j.gim.2024.101077. Epub 2024 Jan 23. Genet Med. 2024. PMID: 38275146
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.
Lunke S, Bouffler SE, Downie L, Caruana J, Amor DJ, Archibald A, Bombard Y, Christodoulou J, Clausen M, De Fazio P, Greaves RF, Hollizeck S, Kanga-Parabia A, Lang N, Lynch F, Peters R, Sadedin S, Tutty E, Eggers S, Lee C, Wall M, Yeung A, Gaff C, Gyngell C, Vears DF, Best S, Goranitis I, Stark Z. Lunke S, et al. Among authors: caruana j. BMJ Open. 2024 Apr 3;14(4):e081426. doi: 10.1136/bmjopen-2023-081426. BMJ Open. 2024. PMID: 38569677 Free PMC article.
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: caruana j. N Engl J Med. 2024 Nov 21;391(20):1877-1889. doi: 10.1056/NEJMoa2314768. N Engl J Med. 2024. PMID: 39565987
Bacterial Membrane Vesicles for In Vitro Catalysis.
Thakur M, Dean SN, Caruana JC, Walper SA, Ellis GA. Thakur M, et al. Among authors: caruana jc. Bioengineering (Basel). 2023 Sep 20;10(9):1099. doi: 10.3390/bioengineering10091099. Bioengineering (Basel). 2023. PMID: 37760201 Free PMC article. Review.
Effectiveness of hyperbaric chamber ventilation.
Matity L, Burman F, Kot J, Caruana J. Matity L, et al. Among authors: caruana j. Diving Hyperb Med. 2023 Jun 30;53(2):85-91. doi: 10.28920/dhm53.2.85-91. Diving Hyperb Med. 2023. PMID: 37365125 Free PMC article.
85 results