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Page 1
Management and outcome of COVID-19 in CTLA-4 insufficiency.
Ochoa S, Abers MS, Rosen LB, Rump A, Howe K, Lieberman JA, Wright BL, Suez D, Krausz M, Grimbacher B, Lionakis MS, Uzel G. Ochoa S, et al. Among authors: rump a. Blood Adv. 2023 Oct 10;7(19):5743-5751. doi: 10.1182/bloodadvances.2023010105. Blood Adv. 2023. PMID: 37406177 Free PMC article.
Common severe infections in chronic granulomatous disease.
Marciano BE, Spalding C, Fitzgerald A, Mann D, Brown T, Osgood S, Yockey L, Darnell DN, Barnhart L, Daub J, Boris L, Rump AP, Anderson VL, Haney C, Kuhns DB, Rosenzweig SD, Kelly C, Zelazny A, Mason T, DeRavin SS, Kang E, Gallin JI, Malech HL, Olivier KN, Uzel G, Freeman AF, Heller T, Zerbe CS, Holland SM. Marciano BE, et al. Among authors: rump ap. Clin Infect Dis. 2015 Apr 15;60(8):1176-83. doi: 10.1093/cid/ciu1154. Epub 2014 Dec 23. Clin Infect Dis. 2015. PMID: 25537876 Free PMC article.
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.
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.
Rare HCV subtypes and retreatment outcomes in a cohort of European DAA-experienced patients.
Dietz J, Graf C, Berg CP, Port K, Deterding K, Buggisch P, Peiffer KH, Vermehren J, Dultz G, Geier A, Reiter FP, Bruns T, Schattenberg JM, Durmashkina E, Gustot T, Moreno C, Trauth J, Discher T, Fischer J, Berg T, Kremer AE, Müllhaupt B, Zeuzem S, Sarrazin C; European HCV Resistance Study Group. Dietz J, et al. JHEP Rep. 2024 Mar 25;6(7):101072. doi: 10.1016/j.jhepr.2024.101072. eCollection 2024 Jul. JHEP Rep. 2024. PMID: 39006503 Free PMC article.
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