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Cardio-Oncology Recommendations for Pediatric Oncology Patients: An Australian and New Zealand Delphi Consensus.
Toro C, Felmingham B, Jessop S, Celermajer DS, Kotecha RS, Govender D, Terese Hanna DM, O'Connor M, Manudhane R, Ayer J, O'Sullivan J, Sullivan M, Costello B, La Gerche A, Walwyn T, Horvath L, Mateos MK, Fulbright J, Jadhav M, Cheung M, Eisenstat D, Elliott DA, Conyers R. Toro C, et al. JACC Adv. 2022 Dec 30;1(5):100155. doi: 10.1016/j.jacadv.2022.100155. eCollection 2022 Dec. JACC Adv. 2022. PMID: 38939459 Free PMC article. Review.
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF. Corbett MA, et al. Am J Hum Genet. 2011 May 13;88(5):657-63. doi: 10.1016/j.ajhg.2011.04.011. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549339 Free PMC article.
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF. Boissé Lomax L, et al. Brain. 2013 Apr;136(Pt 4):1146-54. doi: 10.1093/brain/awt021. Epub 2013 Feb 28. Brain. 2013. PMID: 23449775
Development and validation of a rapid point of care CYP2C19 genotyping platform.
Burke KA, O'Sullivan J, Godfrey N, Sharma V, Hilton S, Wright SJ, Greaves NS, Newman WG, McDermott JH. Burke KA, et al. Among authors: o sullivan j. J Mol Diagn. 2024 Dec 24:S1525-1578(24)00312-X. doi: 10.1016/j.jmoldx.2024.12.001. Online ahead of print. J Mol Diagn. 2024. PMID: 39725012
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: o sullivan j. Am J Hum Genet. 2024 Dec 14:S0002-9297(24)00416-6. doi: 10.1016/j.ajhg.2024.11.007. Online ahead of print. Am J Hum Genet. 2024. PMID: 39701103 Free article.
Targeting Radiation Resistance in Oesophageal Adenocarcinoma with Pyrazinib-Functionalised Gold Nanoparticles.
Marcone S, Spadavecchia J, Khan M, Vella G, O'Connell F, Pendino M, Menon M, Donohoe C, Narayanasamy R, Reynolds JV, Maher SG, Lynam-Lennon N, Kennedy B, Prina-Mello A, O'Sullivan J. Marcone S, et al. Among authors: o sullivan j. Cancers (Basel). 2024 Nov 29;16(23):4007. doi: 10.3390/cancers16234007. Cancers (Basel). 2024. PMID: 39682192 Free PMC article.
1,876 results