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Page 1
The Global State of the Genetic Counseling Profession.
Abacan M, Alsubaie L, Barlow-Stewart K, Caanen B, Cordier C, Courtney E, Davoine E, Edwards J, Elackatt NJ, Gardiner K, Guan Y, Huang LH, Malmgren CI, Kejriwal S, Kim HJ, Lambert D, Lantigua-Cruz PA, Lee JMH, Lodahl M, Lunde Å, Macaulay S, Macciocca I, Margarit S, Middleton A, Moldovan R, Ngeow J, Obregon-Tito AJ, Ormond KE, Paneque M, Powell K, Sanghavi K, Scotcher D, Scott J, Juhé CS, Shkedi-Rafid S, Wessels TM, Yoon SY, Wicklund C. Abacan M, et al. Among authors: macciocca i. Eur J Hum Genet. 2019 Feb;27(2):183-197. doi: 10.1038/s41431-018-0252-x. Epub 2018 Oct 5. Eur J Hum Genet. 2019. PMID: 30291341 Free PMC article. Review.
Genetic Counseling in the Era of Genomics: What's all the Fuss about?
Brett GR, Wilkins EJ, Creed ET, West K, Jarmolowicz A, Valente GM, Prawer Y, Lynch E, Macciocca I. Brett GR, et al. Among authors: macciocca i. J Genet Couns. 2018 Sep;27(5):1010-1021. doi: 10.1007/s10897-018-0216-x. Epub 2018 Jan 24. J Genet Couns. 2018. PMID: 29368275
Professional regulation for Australasian genetic counselors.
Hoskins C, Gaff C, McEwen A, Macciocca I, Pearn A, Shalhoub C, Salvemini H, Berkman J, Riley KE, Williams R, Milward M, Young MA. Hoskins C, et al. Among authors: macciocca i. J Genet Couns. 2021 Apr;30(2):361-369. doi: 10.1002/jgc4.1344. Epub 2020 Nov 5. J Genet Couns. 2021. PMID: 33151605
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.
Stark Z, Dashnow H, Lunke S, Tan TY, Yeung A, Sadedin S, Thorne N, Macciocca I, Gaff C; Melbourne Genomics Health Alliance; Oshlack A, White SM, James PA. Stark Z, et al. Among authors: macciocca i. Eur J Hum Genet. 2017 Nov;25(11):1268-1272. doi: 10.1038/ejhg.2017.123. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832562 Free PMC article.
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
Martyn M, Kanga-Parabia A, Lynch E, James PA, Macciocca I, Trainer AH, Halliday J, Keogh L, Wale J, Winship I, Bogwitz M, Valente G, Walsh M, Downie L, Amor D, Wallis M, Cunningham F, Burgess M, Brown NJ, Jarmolowicz A, Lunke S, Goranitis I; Melbourne Genomics Health Alliance; Gaff CL. Martyn M, et al. Among authors: macciocca i. J Genet Couns. 2019 Apr;28(2):388-397. doi: 10.1002/jgc4.1102. Epub 2019 Feb 18. J Genet Couns. 2019. PMID: 30776170
Genetic Testing in Inherited Heart Diseases.
Ingles J, Macciocca I, Morales A, Thomson K. Ingles J, et al. Among authors: macciocca i. Heart Lung Circ. 2020 Apr;29(4):505-511. doi: 10.1016/j.hlc.2019.10.014. Epub 2019 Nov 29. Heart Lung Circ. 2020. PMID: 31813745 Review.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Stark Z, Foulger RE, Williams E, Thompson BA, Patel C, Lunke S, Snow C, Leong IUS, Puzriakova A, Daugherty LC, Leigh S, Boustred C, Niblock O, Rueda-Martin A, Gerasimenko O, Savage K, Bellamy W, Lin VSK, Valls R, Gordon L, Brittain HK, Thomas ERA, Taylor Tavares AL, McEntagart M, White SM, Tan TY, Yeung A, Downie L, Macciocca I, Savva E, Lee C, Roesley A, De Fazio P, Deller J, Deans ZC, Hill SL, Caulfield MJ, North KN, Scott RH, Rendon A, Hofmann O, McDonagh EM. Stark Z, et al. Among authors: macciocca i. Am J Hum Genet. 2021 Sep 2;108(9):1551-1557. doi: 10.1016/j.ajhg.2021.06.020. Epub 2021 Jul 29. Am J Hum Genet. 2021. PMID: 34329581 Free PMC article. Review.
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
Bouffler SE, Lee L, Lynch F, Martyn M, Lynch E, Macciocca I, Curnow L, McCorkell G, Lunke S, Chong B, Marum JE, Delatycki M, Downie L, Goranitis I, Vears DF, Best S, Clausen M, Bombard Y, Stark Z, Gaff CL. Bouffler SE, et al. Among authors: macciocca i. BMJ Open. 2023 Jun 2;13(6):e072999. doi: 10.1136/bmjopen-2023-072999. BMJ Open. 2023. PMID: 37270192 Free PMC article.
Guidelines for genetic testing of inherited cardiac disorders.
Ingles J, Zodgekar PR, Yeates L, Macciocca I, Semsarian C, Fatkin D; CSANZ Cardiac Genetic Diseases Council Writing Group. Ingles J, et al. Among authors: macciocca i. Heart Lung Circ. 2011 Nov;20(11):681-7. doi: 10.1016/j.hlc.2011.07.013. Heart Lung Circ. 2011. PMID: 22000298 Review.
44 results