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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: christodoulou j. Genet Med. 2024 Sep 19:101271. doi: 10.1016/j.gim.2024.101271. Online ahead of print. Genet Med. 2024. PMID: 39305161
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Ball M, Bouffler SE, Barnett CB, Freckmann ML, Hunter MF, Kamien B, Kassahn KS, Lunke S, Patel CV, Pinner J, Roscioli T, Sandaradura SA, Scott HS, Tan TY, Wallis M, Compton AG, Thorburn DR, Stark Z, Christodoulou J. Ball M, et al. Among authors: christodoulou j. Genet Med. 2024 Oct 15;27(1):101293. doi: 10.1016/j.gim.2024.101293. Online ahead of print. Genet Med. 2024. PMID: 39417332
Microcosting genomics: Challenges and opportunities.
Santos Gonzalez F, Ungar WJ, Buchanan J, Christodoulou J, Stark Z, Goranitis I. Santos Gonzalez F, et al. Among authors: christodoulou j. Genet Med. 2024 Nov 7;27(2):101310. doi: 10.1016/j.gim.2024.101310. Online ahead of print. Genet Med. 2024. PMID: 39522058 No abstract available.
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.
Santos Gonzalez F, Hock DH, Thorburn DR, Mordaunt D, Williamson NA, Ang CS, Stroud DA, Christodoulou J, Goranitis I. Santos Gonzalez F, et al. Among authors: christodoulou j. Orphanet J Rare Dis. 2024 Nov 29;19(1):443. doi: 10.1186/s13023-024-03462-w. Orphanet J Rare Dis. 2024. PMID: 39609890 Free PMC article.
Correction: Novel CDKL5 targets identified in human iPSC-derived neurons.
Massey S, Ang CS, Davidson NM, Quigley A, Rollo B, Harris AR, Kapsa RMI, Christodoulou J, Van Bergen NJ. Massey S, et al. Among authors: christodoulou j. Cell Mol Life Sci. 2024 Sep 10;81(1):392. doi: 10.1007/s00018-024-05421-x. Cell Mol Life Sci. 2024. PMID: 39254686 Free PMC article. No abstract available.
Novel CDKL5 targets identified in human iPSC-derived neurons.
Massey S, Ang CS, Davidson NM, Quigley A, Rollo B, Harris AR, Kapsa RMI, Christodoulou J, Van Bergen NJ. Massey S, et al. Among authors: christodoulou j. Cell Mol Life Sci. 2024 Aug 13;81(1):347. doi: 10.1007/s00018-024-05389-8. Cell Mol Life Sci. 2024. PMID: 39136782 Free PMC article.
Generation and Characterization of a Human Neuronal In Vitro Model for Rett Syndrome Using a Direct Reprogramming Method.
Huber A, Sarne V, Beribisky AV, Ackerbauer D, Derdak S, Madritsch S, Etzler J, Huck S, Scholze P, Gorgulu I, Christodoulou J, Studenik CR, Neuhaus W, Connor B, Laccone F, Steinkellner H. Huber A, et al. Among authors: christodoulou j. Stem Cells Dev. 2024 Mar;33(5-6):128-142. doi: 10.1089/scd.2023.0233. Epub 2024 Feb 22. Stem Cells Dev. 2024. PMID: 38164119
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB. Morton SU, et al. Among authors: christodoulou j. Neurology. 2025 Jan 14;104(1):e210106. doi: 10.1212/WNL.0000000000210106. Epub 2024 Dec 19. Neurology. 2025. PMID: 39700446
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F, Le Pen J, de Weerd NA, Moncada-Velez M, Materna M, Lin DC, Milisavljevic B, Vianna F, Bizien L, Lorenzo L, Lecuit M, Pommier JD, Keles S, Ozcelik T, Pedraza-Sanchez S, de Prost N, El Zein L, Hammoud H, Ng LFP, Halwani R, Saheb Sharif-Askari N, Lau YL, Tam AR, Singh N, Bhattad S, Berkun Y, Chantratita W, Aguilar-López R, Shahrooei M; COVID-19 HGE Consortium; SEAe Consortium; Abel L, Bastard P, Jouanguy E, Béziat V, Zhang P, Rice CM, Cobat A, Zhang SY, Hertzog PJ, Casanova JL, Zhang Q. Al Qureshah F, et al. J Exp Med. 2025 Feb 3;222(2):e20241413. doi: 10.1084/jem.20241413. Epub 2024 Dec 16. J Exp Med. 2025. PMID: 39680367 Free PMC article.
596 results