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Year Number of Results
2017 1
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2025 6

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23 results

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Page 1
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: horton ae. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Genetic testing in cardiovascular disease.
Martin AC, Horton AE, Srinivasan S. Martin AC, et al. Among authors: horton ae. Med J Aust. 2024 Nov 4;221(9):501. doi: 10.5694/mja2.52479. Epub 2024 Oct 8. Med J Aust. 2024. PMID: 39377365 No abstract available.
Echocardiogram screening in pediatric dialysis and transplantation.
Le Page AK, Nagasundaram N, Horton AE, Johnstone LM. Le Page AK, et al. Among authors: horton ae. Pediatr Nephrol. 2023 Apr;38(4):957-974. doi: 10.1007/s00467-022-05721-z. Epub 2022 Sep 17. Pediatr Nephrol. 2023. PMID: 36114889 Free PMC article. Review.
Lifesaving Diagnosis Through Prenatal Genomic Sequencing.
Fennell AP, Roscioli T, Buckley M, Horton AE, Long S, Pharande P, Clucas LM. Fennell AP, et al. Among authors: horton ae. Obstet Gynecol Surv. 2025 Dec 1;80(12):745-747. doi: 10.1097/OGX.0000000000001474. Obstet Gynecol Surv. 2025. PMID: 41373144 Free article. Review.
Lifesaving Diagnosis through Prenatal Genomic Sequencing.
Fennell AP, Roscioli T, Buckley M, Horton AE, Long S, Pharande P, Clucas LM. Fennell AP, et al. Among authors: horton ae. N Engl J Med. 2025 Jul 3;393(1):93-95. doi: 10.1056/NEJMc2506080. N Engl J Med. 2025. PMID: 40601945 No abstract available.
Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
Johnson R, Fletcher RA, Peters S, Ohanian M, Soka M, Smolnikov A, Abihider KE, Ackerman MJ, Ader F, Akhtar MM, Amin AS, Ashley EA, Atherton JJ, Austin R, Baas AF, Bagnall RD, Ross SB, Blouin JL, Brown EE, Bundgaard H, Cannie D, Chmielewski P, Correnti G, Crespo-Leiro MG, Dal Ferro M, Dellefave-Castillo LM, Dominguez F, Dooijes D, Dybro AM, Ed Demri Y, El Hachmi M, Escobar-Lopez L, Foye SJ, Franaszczyk M, Gigli M, Lopez EG, Goudal A, Graw S, Guipponi M, Haan E, Haas J, Hammersley DJ, Hansen FG, Hayward CS, Hey TM, Heymans S, Ho CY, Houweling AC, Ingles J, Ingrey A, Jabbour A, James PA, Jansweijer JA, Jongbloed JDH, Keogh AM, Larrañaga-Moreira JM, Lekanne Deprez RH, Macciocca I, Macdonald PS, Mansencal N, Mansour J, Martinez-Veira C, McDonough B, McGaughran J, Medo K, Merlo M, Michalak E, Monserrat L, Mountain H, Muller SA, Murphy AM, Murray B, Oates EC, Ormondroyd E, Pachter N, Paldino A, Palmyre A, Pereira NL, Picard KC, Poplawski N, Prasad S, Proukhnitzky J, Pruny JF, Reant P, Richard P, Ronan A, Sedaghat-Hamedani F, Semsarian C, Storm G, Stroeks S, Syrris P, Taylor MRG, Thomson K, Thompson T, van Tintelen JP, Vissing CR, Waddell-Smith KE, Wallis M, Zentner D; Australian Genomics… See abstract for full author list ➔ Johnson R, et al. Eur Heart J. 2025 Dec 22;46(48):5240-5257. doi: 10.1093/eurheartj/ehaf380. Eur Heart J. 2025. PMID: 40796136 Free PMC article.
Myocarditis after COVID-19 mRNA vaccination in Australia.
Varma SK, Horton AE, Taylor AL, Ditchfield MR, Hope SA, Rao SJ. Varma SK, et al. Among authors: horton ae. Med J Aust. 2022 Sep 5;217(5):260-261. doi: 10.5694/mja2.51657. Epub 2022 Jul 13. Med J Aust. 2022. PMID: 35831071 Free PMC article. No abstract available.
Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.
Watts GF, Sullivan DR, Hare DL, Kostner KM, Horton AE, Bell DA, Brett T, Trent RJ, Poplawski NK, Martin AC, Srinivasan S, Justo RN, Chow CK, Pang J; FH Australasia Network Consensus Working Group. Watts GF, et al. Among authors: horton ae. Heart Lung Circ. 2021 Mar;30(3):324-349. doi: 10.1016/j.hlc.2020.09.943. Epub 2020 Dec 9. Heart Lung Circ. 2021. PMID: 33309206 Free article. Review.
23 results