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653 results

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Page 1
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.
Olinger E, Phakdeekitcharoen P, Caliskan Y, Orr S, Mabillard H, Pickles C, Tse Y, Wood K; Genomics England Research Consortium; Sayer JA. Olinger E, et al. Among authors: orr s. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):109-120. doi: 10.1002/ajmg.c.31964. Epub 2022 Mar 15. Am J Med Genet C Semin Med Genet. 2022. PMID: 35289079 Free PMC article.
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Mau-Them FT, Nambot S, Faivre L, Ars E, Torra R, Ong AC, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E; Genomics England Research Consortium, CYSTic Consortium and Genkyst Study Group. Zagorec N, et al. Among authors: orr s. Am J Kidney Dis. 2024 Dec 26:S0272-6386(24)01126-0. doi: 10.1053/j.ajkd.2024.10.009. Online ahead of print. Am J Kidney Dis. 2024. PMID: 39732359
Arrhythmia and Death Following Percutaneous Revascularization in Ischemic Left Ventricular Dysfunction: Prespecified Analyses From the REVIVED-BCIS2 Trial.
Perera D, Morgan HP, Ryan M, Dodd M, Clayton T, O'Kane PD, Greenwood JP, Walsh SJ, Weerackody R, McDiarmid A, Amin-Youssef G, Strange J, Modi B, Lockie T, Hogrefe K, Ahmed FZ, Behan M, Jenkins N, Abdelaal E, Anderson M, Watkins S, Evans R, Rinaldi CA, Petrie MC; REVIVED-BCIS2 Investigators. Perera D, et al. Circulation. 2023 Sep 12;148(11):862-871. doi: 10.1161/CIRCULATIONAHA.123.065300. Epub 2023 Aug 9. Circulation. 2023. PMID: 37555345 Free PMC article. Clinical Trial.
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. Among authors: orr s. 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.
Altered post-fracture systemic bone loss in a mouse model of osteocyte dysfunction.
Osipov B, Emami AJ, Cunningham HC, Orr S, Lin YY, Jbeily EH, Punati RS, Murugesh DK, Zukowski HM, Loots GG, Carney R, Vargas D, Ferguson VL, Christiansen BA. Osipov B, et al. Among authors: orr s. JBMR Plus. 2024 Nov 1;8(12):ziae135. doi: 10.1093/jbmrpl/ziae135. eCollection 2024 Dec. JBMR Plus. 2024. PMID: 39605879 Free PMC article.
653 results