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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: oshlack a. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Dashnow H, Lek M, Phipson B, Halman A, Sadedin S, Lonsdale A, Davis M, Lamont P, Clayton JS, Laing NG, MacArthur DG, Oshlack A. Dashnow H, et al. Among authors: oshlack a. Genome Biol. 2018 Aug 21;19(1):121. doi: 10.1186/s13059-018-1505-2. Genome Biol. 2018. PMID: 30129428 Free PMC article.
Most existing tools for detecting STR variation with short reads do so within the read length and so are unable to detect the majority of pathogenic expansions. Here we present STRetch, a new genome-wide method to scan for STR expansions at all loci across the human genome …
Most existing tools for detecting STR variation with short reads do so within the read length and so are unable to detect the majority of pa …
Genomics in 2011: challenges and opportunities.
Adams DJ, Berger B, Harismendy O, Huttenhower C, Liu XS, Myers CL, Oshlack A, Rinn JL, Walhout AJ. Adams DJ, et al. Among authors: oshlack a. Genome Biol. 2011 Dec 28;12(12):137. doi: 10.1186/gb-2011-12-12-137. Genome Biol. 2011. PMID: 22204305 Free PMC article.
Cord Blood CD8+ T Cells Have a Natural Propensity to Express IL-4 in a Fatty Acid Metabolism and Caspase Activation-Dependent Manner.
Zhang Y, Maksimovic J, Huang B, De Souza DP, Naselli G, Chen H, Zhang L, Weng K, Liang H, Xu Y, Wentworth JM, Huntington ND, Oshlack A, Gong S, Kallies A, Vuillermin P, Yang M, Harrison LC. Zhang Y, et al. Among authors: oshlack a. Front Immunol. 2018 Apr 25;9:879. doi: 10.3389/fimmu.2018.00879. eCollection 2018. Front Immunol. 2018. PMID: 29922282 Free PMC article.
116 results