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The Feasibility of Omega-3 Supplementation Compared to Placebo in the Management of Long COVID Symptoms Among Healthcare Workers: A Randomized Controlled Trial.
Sarkar A, Speiser E, Dara S, Ogedegbe C, Chinnery P, Estanbouli MT, Kasselman L, Kligler B, Gourna Paleoudis E, Parulekar M. Sarkar A, et al. Among authors: chinnery p. Cureus. 2024 Dec 21;16(12):e76148. doi: 10.7759/cureus.76148. eCollection 2024 Dec. Cureus. 2024. PMID: 39840178 Free PMC article.
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD co… See abstract for full author list ➔ Laurie S, et al. Among authors: chinnery pf. Nat Med. 2025 Jan 17. doi: 10.1038/s41591-024-03420-w. Online ahead of print. Nat Med. 2025. PMID: 39825153
Hereditary Myopathy with Early Respiratory Failure.
Pfeffer G, Chinnery PF. Pfeffer G, et al. Among authors: chinnery pf. 2014 Feb 27 [updated 2024 Dec 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Feb 27 [updated 2024 Dec 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24575448 Free Books & Documents. Review.
Retraction Note: Development and evaluation of rapid data-enabled access to routine clinical information to enhance early recruitment to the national clinical platform trial of COVID-19 community treatments.
Cake C, Ogburn E, Pinches H, Coleman G, Seymour D, Woodard F, Manohar S, Monsur M, Landray M, Dalton G, Morris AD, Chinnery PF; UK COVID-19 National Core Studies Consortium; Hobbs FDR, Butler C. Cake C, et al. Among authors: chinnery pf. Trials. 2024 Oct 29;25(1):726. doi: 10.1186/s13063-024-08580-1. Trials. 2024. PMID: 39472985 Free PMC article. No abstract available.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Posthospitalization COVID-19 cognitive deficits at 1 year are global and associated with elevated brain injury markers and gray matter volume reduction.
Wood GK, Sargent BF, Ahmad ZU, Tharmaratnam K, Dunai C, Egbe FN, Martin NH, Facer B, Pendered SL, Rogers HC, Hübel C, van Wamelen DJ, Bethlehem RAI, Giunchiglia V, Hellyer PJ, Trender W, Kalsi G, Needham E, Easton A, Jackson TA, Cunningham C, Upthegrove R, Pollak TA, Hotopf M, Solomon T, Pett SL, Shaw PJ, Wood N, Harrison NA, Miller KL, Jezzard P, Williams G, Duff EP, Williams S, Zelaya F, Smith SM, Keller S, Broome M, Kingston N, Husain M, Vincent A, Bradley J, Chinnery P, Menon DK, Aggleton JP, Nicholson TR, Taylor JP, David AS, Carson A, Bullmore E, Breen G, Hampshire A; COVID-CNS Consortium; Michael BD, Paddick SM, Leek EC. Wood GK, et al. Among authors: chinnery p. Nat Med. 2025 Jan;31(1):245-257. doi: 10.1038/s41591-024-03309-8. Epub 2024 Sep 23. Nat Med. 2025. PMID: 39312956 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.
Gao F, Schon KR, Vandrovcova J, Wilson L, Hanna MG; ICGNMD Consortium; Çavdarlı B, Heckmann J, Chinnery PF, Horvath R. Gao F, et al. Among authors: chinnery pf. Ann Clin Transl Neurol. 2024 Aug 2. doi: 10.1002/acn3.52141. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 39095335 Free article.
698 results