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Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.
Balasubramanian M, Fratzl-Zelman N, O'Sullivan R, Bull M, Fa Peel N, Pollitt RC, Jones R, Milne E, Smith K, Roschger P, Klaushofer K, Bishop NJ. Balasubramanian M, et al. Am J Med Genet A. 2018 Jul;176(7):1578-1586. doi: 10.1002/ajmg.a.38830. Epub 2018 May 7. Am J Med Genet A. 2018. PMID: 29736964 Free article.
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.
Radley JA, O'Sullivan RBG, Turton SE, Cox H, Vogt J, Morton J, Jones E, Smithson S, Lachlan K, Rankin J, Clayton-Smith J, Willoughby J, Elmslie FF, Sansbury FH, Cooper N; Deciphering Developmental Disorders (DDD) Study; Balasubramanian M. Radley JA, et al. Clin Genet. 2019 Apr;95(4):496-506. doi: 10.1111/cge.13507. Clin Genet. 2019. PMID: 30666632 Free article.
Balancing Duty, Stigma, and Caregiving Needs of People With Neurodevelopmental or Neurocognitive Disorders During a Public Health Emergency in South Asia: A Qualitative Study of Carer Experiences.
Tjin A, Goodwin A, Troy C, Yeo S, Saha S, O'Sullivan R, Leroi I, Chen Y; CLIC Caregiver Study Group. Tjin A, et al. Among authors: o sullivan r. Int J Geriatr Psychiatry. 2024 Nov;39(11):e70010. doi: 10.1002/gps.70010. Int J Geriatr Psychiatry. 2024. PMID: 39558492
Detection of Alternative Lengthening of Telomeres via Chromogenic in situ Hybridization (ALT-CISH) for the Prognostication of PanNETs and Other Neoplasms.
Heaphy CM, Patel S, Smith K, Wondisford AR, Lynskey ML, O'Sullivan RJ, Fuhrer K, Han X, Seethala RR, Liu TC, Cao D, Ertunc O, Zheng Q, Stojanova M, Zureikat AH, Paniccia A, Lee K, Ongchin MC, Pingpank JF, Zeh HJ, Hogg ME, Geller D, Marsh JW, Brand RE, Chennat JS, Das R, Fasanella KE, Gabbert C, Khalid A, McGrath K, Lennon AM, Sarkaria S, Singh H, Slivka A, Hsu D, Zhang JY, Nacev BA, Nikiforova MN, Wald AI, Vaddi N, De Marzo AM, Singhi AH, Bell PD, Singhi AD. Heaphy CM, et al. Among authors: o sullivan rj. Mod Pathol. 2024 Nov 8:100651. doi: 10.1016/j.modpat.2024.100651. Online ahead of print. Mod Pathol. 2024. PMID: 39522643 Free article.
HIRA protects telomeres against R-loop-induced instability in ALT cancer cells.
Lynskey ML, Brown EE, Bhargava R, Wondisford AR, Ouriou JB, Freund O, Bowman RW 2nd, Smith BA, Lardo SM, Schamus-Hayes S, Hainer SJ, O'Sullivan RJ. Lynskey ML, et al. Among authors: o sullivan rj. Cell Rep. 2024 Nov 6;43(11):114964. doi: 10.1016/j.celrep.2024.114964. Online ahead of print. Cell Rep. 2024. PMID: 39509271 Free article.
Mechanisms of Alternative Lengthening of Telomeres.
O'Sullivan RJ, Greenberg RA. O'Sullivan RJ, et al. Cold Spring Harb Perspect Biol. 2024 Nov 5:a041690. doi: 10.1101/cshperspect.a041690. Online ahead of print. Cold Spring Harb Perspect Biol. 2024. PMID: 39500623
399 results