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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: righetti s. 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 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: righetti s. 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.
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Palmer EE, Sachdev R, Macintosh R, Melo US, Mundlos S, Righetti S, Kandula T, Minoche AE, Puttick C, Gayevskiy V, Hesson L, Idrisoglu S, Shoubridge C, Thai MHN, Davis RL, Drew AP, Sampaio H, Andrews PI, Lawson J, Cardamone M, Mowat D, Colley A, Kummerfeld S, Dinger ME, Cowley MJ, Roscioli T, Bye A, Kirk E. Palmer EE, et al. Among authors: righetti s. Neurology. 2021 Mar 30;96(13):e1770-e1782. doi: 10.1212/WNL.0000000000011655. Epub 2021 Feb 10. Neurology. 2021. PMID: 33568551
Association between Physical Activity and Menstrual Cycle Disorders in Young Athletes.
Passoni P, Inzoli A, De Ponti E, Polizzi S, Ceccherelli A, Fantauzzi M, Procaccianti C, Cattoni A, Villa S, Riva A, Righetti S, Landoni F, Fruscio R. Passoni P, et al. Among authors: righetti s. Int J Sports Med. 2024 Mar 28. doi: 10.1055/a-2278-3253. Online ahead of print. Int J Sports Med. 2024. PMID: 38417813 Free article.
51 results