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Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.
Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R; Genomics England Research Consortium; Atan D, Sayer JA. Olinger E, et al. Genet Med Open. 2024 Feb 29;2:101834. doi: 10.1016/j.gimo.2024.101834. eCollection 2024. Genet Med Open. 2024. PMID: 39669628 Free PMC article.
Origins and impact of extrachromosomal DNA.
Bailey C, Pich O, Thol K, Watkins TBK, Luebeck J, Rowan A, Stavrou G, Weiser NE, Dameracharla B, Bentham R, Lu WT, Kittel J, Yang SYC, Howitt BE, Sharma N, Litovchenko M, Salgado R, Hung KL, Cornish AJ, Moore DA, Houlston RS, Bafna V, Chang HY, Nik-Zainal S, Kanu N, McGranahan N; Genomics England Consortium; Flanagan AM, Mischel PS, Jamal-Hanjani M, Swanton C. Bailey C, et al. Nature. 2024 Nov;635(8037):193-200. doi: 10.1038/s41586-024-08107-3. Epub 2024 Nov 6. Nature. 2024. PMID: 39506150 Free PMC article.
Update of clinical practice guidelines for the management of patients with sarcoma.
Gyorki DE, Bae S, Smith RC, Caruso DA, Coker D, Connolly EA, Desai J, Johnston A, Lawless AK, Lazarakis S, Lo H, Maclean F, Mar J, McDonough J, Perianayagam G, Phillips M, Pryor D, Sundaram A, Thompson SR, Zhou DD, Hong AM. Gyorki DE, et al. Among authors: thompson sr. ANZ J Surg. 2024 Oct 30. doi: 10.1111/ans.19293. Online ahead of print. ANZ J Surg. 2024. PMID: 39475177 No abstract available.
Estimated incidence of disruptions to event-free survival from non-metastatic cancers in New South Wales, Australia - a population-wide epidemiological study of linked cancer registry and treatment data.
Morrell S, Roder D, Currow D, Engel A, Hovey E, Lewis CR, Liauw W, Martin JM, Patel M, Thompson SR, O'Brien T. Morrell S, et al. Among authors: thompson sr. Front Oncol. 2024 Aug 21;14:1338754. doi: 10.3389/fonc.2024.1338754. eCollection 2024. Front Oncol. 2024. PMID: 39234396 Free PMC article.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. J Med Genet. 2024 Jun 20;61(7):689-698. doi: 10.1136/jmg-2023-109728. J Med Genet. 2024. PMID: 38458752 Free PMC article.
"Until death do us part". A multidisciplinary study on human- Animal co- burials from the Late Iron Age necropolis of Seminario Vescovile in Verona (Northern Italy, 3rd-1st c. BCE).
Laffranchi Z, Zingale S, Tecchiati U, Amato A, Coia V, Paladin A, Salzani L, Thompson SR, Bersani M, Dori I, Szidat S, Lösch S, Ryan-Despraz J, Arenz G, Zink A, Milella M. Laffranchi Z, et al. Among authors: thompson sr. PLoS One. 2024 Feb 14;19(2):e0293434. doi: 10.1371/journal.pone.0293434. eCollection 2024. PLoS One. 2024. PMID: 38354185 Free PMC article.
208 results