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316 results

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Page 1
Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.
Austin R, Quinn MCJ, Afoakwah C, Metke-Jimenez A, Leroux H, Atherton J, Brown JS, Wornham LJ, Macciocca I, de Silva MG, Thompson T, Martin EM, Hilton D, Devery S, Wu KHC, Jackson MR, Correnti G, Overkov A, Elbracht-Leong S, Ingles J, Scuffham P, Semsarian C, McGaughran J. Austin R, et al. Among authors: martin em. Int J Cardiol. 2021 May 1;330:128-134. doi: 10.1016/j.ijcard.2021.02.010. Epub 2021 Feb 11. Int J Cardiol. 2021. PMID: 33581180 Free article.
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: martin em. Genet Med. 2025 Jan;27(1):101271. doi: 10.1016/j.gim.2024.101271. Epub 2024 Sep 19. Genet Med. 2025. PMID: 39305161
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.
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
Wong WK, Troedson C, Dale RC, Roscioli T, Field M, Palmer E, Martin EM, Kumar KR, Mohammad SS. Wong WK, et al. Among authors: martin em. Mov Disord Clin Pract. 2022 Sep 11;9(Suppl 2):S32-S35. doi: 10.1002/mdc3.13538. eCollection 2022 Sep. Mov Disord Clin Pract. 2022. PMID: 36110148 Free PMC article. No abstract available.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: martin e. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
"It always needs a higher level of care than what I can provide": Practical, ethical, and administrative tensions arising from the integration of wound care services into syringe service programs in Maryland.
Sisson LN, Block SJ, Triece T, Martin EM, Owczarzak J, Sherman SG, Schneider KE. Sisson LN, et al. Among authors: martin em. Int J Drug Policy. 2025 Jan;135:104685. doi: 10.1016/j.drugpo.2024.104685. Epub 2024 Dec 13. Int J Drug Policy. 2025. PMID: 39674056
316 results