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Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG. Amarasekera SSC, et al. Among authors: fahey mc. Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069. Hum Mol Genet. 2023. PMID: 37133451 Free PMC article.
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D, Amor DJ, Boggs K, Baker N, Barnett C, de Silva MG, Edwards S, Fahey MC, Marum JE, Snell P, Bozaoglu K, Pope K, Mohammad SS, Riney K, Sachdev R, Scheffer IE, Schenscher S, Silberstein J, Smith N, Tom M, Ware TL, Lockhart PJ, Leventer RJ. Kooshavar D, et al. Among authors: fahey mc. Brain Commun. 2024 Feb 28;6(2):fcae056. doi: 10.1093/braincomms/fcae056. eCollection 2024. Brain Commun. 2024. PMID: 38444904 Free PMC article.
Maternal SARS-CoV-2 exposure alters infant DNA methylation.
Hill RA, Gibbons A, Han U, Suwakulsiri W, Taseska A, Hammet F, Southey M, Malhotra A, Fahey M, Palmer KR, Hunt RW, Lim I, Newman-Morris V, Sundram S. Hill RA, et al. Brain Behav Immun Health. 2023 Feb;27:100572. doi: 10.1016/j.bbih.2022.100572. Epub 2022 Dec 17. Brain Behav Immun Health. 2023. PMID: 36570792 Free PMC article.
The Knowledge Translation of Early Cerebral Palsy (KiTE CP) Study: Implementing Screening Among a High-Risk Prospective Cohort of Australian Infants.
Kwong AKL, Eeles AL, Anderson PJ, Badawi N, Boyd RN, Cameron KL, Cheong JLY, Colditz P, Koorts P, Crowle C, Dale RC, Doyle LW, Fahey M, George J, Hunt RW, McNamara L, Morgan C, Novak I, Olsen JE, Reid N, Rieger I, Whittingham K, Spittle AJ. Kwong AKL, et al. J Pediatr. 2024 May;268:113949. doi: 10.1016/j.jpeds.2024.113949. Epub 2024 Feb 8. J Pediatr. 2024. PMID: 38336205 Free article.
143 results