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645 results

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Page 1
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
Hort Y, Sullivan P, Wedd L, Fowles L, Stevanovski I, Deveson I, Simons C, Mallett A, Patel C, Furlong T, Cowley MJ, Shine J, Mallawaarachchi A. Hort Y, et al. Among authors: simons c. NPJ Genom Med. 2023 Jul 7;8(1):16. doi: 10.1038/s41525-023-00362-z. NPJ Genom Med. 2023. PMID: 37419908 Free PMC article.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z. Lunke S, et al. Among authors: simons c. Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8. Nat Med. 2023. PMID: 37291213 Free PMC article.
De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome.
Hudson R, Abeysekera N, Wolski P, Simons C, Francis L, Farnsworth E, Bennetts B, Patel C, Spijker S, Mallett A. Hudson R, et al. Among authors: simons c. J Nephrol. 2024 Jan;37(1):191-197. doi: 10.1007/s40620-023-01666-0. Epub 2023 Jun 13. J Nephrol. 2024. PMID: 37308774 Free PMC article. No abstract available.
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: simons c. Genet Med. 2024 Sep 19:101271. doi: 10.1016/j.gim.2024.101271. Online ahead of print. Genet Med. 2024. PMID: 39305161
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: simons c. Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069. Hum Mol Genet. 2023. PMID: 37133451 Free PMC article.
ahctf1 and kras mutations combine to amplify oncogenic stress and restrict liver overgrowth in a zebrafish model of hepatocellular carcinoma.
Morgan KJ, Doggett K, Geng F, Mieruszynski S, Whitehead L, Smith KA, Hogan BM, Simons C, Baillie GJ, Molania R, Papenfuss AT, Hall TE, Ober EA, Stainier DYR, Gong Z, Heath JK. Morgan KJ, et al. Among authors: simons c. Elife. 2023 Jan 17;12:e73407. doi: 10.7554/eLife.73407. Elife. 2023. PMID: 36648336 Free PMC article.
Does stigma leave its mark? The interplay between negative effects of perceived stigma with positive effect of self-esteem on long-term social functioning in schizophrenia.
Ali MP, Tiles-Sar N, Simons CJP, Osicka DA; GROUP Investigators; Habtewold TD, Van der Meer L, Bruggeman R, Alizadeh BZ. Ali MP, et al. Among authors: simons cjp. Schizophr Res. 2024 Oct 31;274:417-426. doi: 10.1016/j.schres.2024.10.011. Online ahead of print. Schizophr Res. 2024. PMID: 39486105 Free article.
645 results