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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Am J Hum Genet. 2022 Nov 3;109(11):1960-1973. doi: 10.1016/j.ajhg.2022.10.006.
Am J Hum Genet. 2022.
PMID: 36332611
Free PMC article.
Review.
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.
Richmond CM, James PA, Pantaleo SJ, Chong B, Lunke S, Tan TY, Macciocca I.
Richmond CM, et al. Among authors: pantaleo sj.
Genet Med. 2021 Jun;23(6):1108-1115. doi: 10.1038/s41436-021-01107-y. Epub 2021 Feb 10.
Genet Med. 2021.
PMID: 33568804
Free article.
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Ten-year experience in atenolol use and exercise evaluation in children with genetically proven long QT syndrome.
Kwok SY, Pflaumer A, Pantaleo SJ, Date E, Jadhav M, Davis AM.
Kwok SY, et al. Among authors: pantaleo sj.
J Arrhythm. 2017 Dec;33(6):624-629. doi: 10.1016/j.joa.2017.08.004. Epub 2017 Oct 12.
J Arrhythm. 2017.
PMID: 29255512
Free PMC article.
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Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
Férec C, Casals T, Chuzhanova N, Macek M Jr, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguénès O, Cooper DN, Audrézet MP, Chen JM.
Férec C, et al. Among authors: pantaleo sj.
Eur J Hum Genet. 2006 May;14(5):567-76. doi: 10.1038/sj.ejhg.5201590.
Eur J Hum Genet. 2006.
PMID: 16493442
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