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Page 1
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Rius R, Compton AG, Baker NL, Balasubramaniam S, Best S, Bhattacharya K, Boggs K, Boughtwood T, Braithwaite J, Bratkovic D, Bray A, Brion MJ, Burke J, Casauria S, Chong B, Coman D, Cowie S, Cowley M, de Silva MG, Delatycki MB, Edwards S, Ellaway C, Fahey MC, Finlay K, Fletcher J, Frajman LE, Frazier AE, Gayevskiy V, Ghaoui R, Goel H, Goranitis I, Haas M, Hock DH, Howting D, Jackson MR, Kava MP, Kemp M, King-Smith S, Lake NJ, Lamont PJ, Lee J, Long JC, MacShane M, Madelli EO, Martin EM, Marum JE, Mattiske T, McGill J, Metke A, Murray S, Panetta J, Phillips LK, Quinn MCJ, Ryan MT, Schenscher S, Simons C, Smith N, Stroud DA, Tchan MC, Tom M, Wallis M, Ware TL, Welch AE, Wools C, Wu Y, Christodoulou J, Thorburn DR. Rius R, et al. Among authors: chong b. Genet Med. 2025 Jan;27(1):101271. doi: 10.1016/j.gim.2024.101271. Epub 2024 Sep 19. Genet Med. 2025. PMID: 39305161
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: chong b. BMJ Open. 2023 Jun 2;13(6):e072999. doi: 10.1136/bmjopen-2023-072999. BMJ Open. 2023. PMID: 37270192 Free PMC article.
Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.
Martyn M, Lee L, Jan A, Tytherleigh R, Lynch F, Mighton C, Bouffler SE, Lynch E, Macciocca I, Curnow L, McCorkell G, Lunke S, Chong B, Delatycki MB, Downie L, Vears D, Best S, Clausen M, Bombard Y, Stark Z, Gaff C. Martyn M, et al. Among authors: chong b. Genet Med. 2024 Nov 14;27(2):101327. doi: 10.1016/j.gim.2024.101327. Online ahead of print. Genet Med. 2024. PMID: 39548854 Free article.
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R, Brown JS, Casauria S, Madelli EO, Mattiske T, Boughtwood T, Metke A, Davis A, Horton AE, Winlaw D, Das D, Soka M, Giannoulatou E, Rath EM, Haan E, Blue GM, Vohra J, Atherton JJ, van Spaendonck-Zwarts K, Cox K, Burnett L, Wallis M, Haas M, Quinn MCJ, Pachter N, Poplawski NK, Stark Z, Bagnall RD, Weintraub RG, Pantaleo SJ, Lunke S, De Fazio P, Thompson T, James P, Chang Y, Fatkin D, Macciocca I, Ingles J, Dunwoodie SL, Semsarian C, McGaughran J; Australian Genomics Cardiovascular Disorders Flagship. Austin R, et al. Genet Med Open. 2024 Mar 25;2:101842. doi: 10.1016/j.gimo.2024.101842. eCollection 2024. Genet Med Open. 2024. PMID: 39669597 Free PMC article.
SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.
Hulsebos TJ, Kenter SB, Jakobs ME, Baas F, Chong B, Delatycki MB. Hulsebos TJ, et al. Among authors: chong b. Clin Genet. 2010 Jan;77(1):86-91. doi: 10.1111/j.1399-0004.2009.01249.x. Epub 2009 Nov 3. Clin Genet. 2010. PMID: 19912265
Low-input redoxomics facilitates global identification of metabolic regulators of oxidative stress in the gut.
Xiao X, Hu M, Gao L, Yuan H, Chong B, Liu Y, Zhang R, Gong Y, Du D, Zhang Y, Yang H, Liu X, Zhang Y, Zhang H, Xu H, Zhao Y, Meng W, Xie D, Lei P, Qi S, Peng Y, Tan T, Yu Y, Hu H, Dong B, Dai L. Xiao X, et al. Among authors: chong b. Signal Transduct Target Ther. 2025 Jan 8;10(1):8. doi: 10.1038/s41392-024-02094-7. Signal Transduct Target Ther. 2025. PMID: 39774148 Free PMC article.
Cardiovascular-Liver-Metabolic Health: Recommendations in Screening, Diagnosis, and Management of Metabolic Dysfunction-Associated Steatotic Liver Disease in Cardiovascular Disease via Modified Delphi Approach.
Chew NWS, Mehta A, Goh RSJ, Zhang A, Chen Y, Chong B, Chew HSJ, Shabbir A, Brown A, Dimitriadis GK, Huang DQ, Foo R, le Roux CW, Figtree GA, Fudim M, Pandey A, Mamas MA, Hausenloy DJ, Richards AM, Nicholls SJ, Chan MY, Muthiah MD, Sanyal A, Sperling LS. Chew NWS, et al. Among authors: chong b. Circulation. 2025 Jan 7;151(1):98-119. doi: 10.1161/CIRCULATIONAHA.124.070535. Epub 2024 Dec 26. Circulation. 2025. PMID: 39723980 Review.
712 results