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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2005 4
2006 2
2007 1
2010 1
2011 5
2012 8
2013 2
2014 2
2015 2
2017 1
2019 1
2020 4
2021 3
2022 2
2023 3
2024 1

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36 results

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Page 1
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG. Wallace EL, et al. Among authors: deegan pb. J Med Genet. 2024 May 21;61(6):520-530. doi: 10.1136/jmg-2023-109445. J Med Genet. 2024. PMID: 37940383 Free PMC article. Clinical Trial.
Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease.
D'Amore S, Sano H, Chappell DDG, Chiarugi D, Baker O, Page K, Ramaswami U, Johannesdottir F, Cox TM, Deegan P, Poole KE; MRC Gaucherite Consortium; MRC Gaucherite Consortium Collaborators. D'Amore S, et al. Radiology. 2023 Apr;307(1):e212779. doi: 10.1148/radiol.212779. Epub 2022 Dec 20. Radiology. 2023. PMID: 36537898 Free PMC article. Clinical Trial.
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.
Deegan PB, Goker-Alpan O, Geberhiwot T, Hopkin RJ, Lukina E, Tylki-Szymanska A, Zaher A, Sensinger C, Gaemers SJM, Modur V, Thurberg BL, Sharma J, Najafian B, Mauer M, DasMahapatra P, Wilcox WR, Germain DP. Deegan PB, et al. Mol Genet Metab. 2023 Feb;138(2):106963. doi: 10.1016/j.ymgme.2022.11.002. Epub 2022 Nov 9. Mol Genet Metab. 2023. PMID: 36481125 Free PMC article. Clinical Trial.
Clinical evaluation of biomarkers in Gaucher disease.
Deegan PB, Cox TM. Deegan PB, et al. Acta Paediatr Suppl. 2005 Mar;94(447):47-50; discussion 37-8. doi: 10.1111/j.1651-2227.2005.tb02111.x. Acta Paediatr Suppl. 2005. PMID: 15895712 Review.
Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy.
Deegan PB, Bähner F, Barba M, Hughes DA, Beck M. Deegan PB, et al. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 30. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 30. PMID: 21290688 Free Books & Documents. Review.
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S, Page K, Donald A, Taiyari K, Tom B, Deegan P, Tan CY, Poole K, Jones SA, Mehta A, Hughes D, Sharma R, Lachmann RH, Chakrapani A, Geberhiwot T, Santra S, Banka S, Cox TM; MRC GAUCHERITE Consortium. D'Amore S, et al. Orphanet J Rare Dis. 2021 Oct 14;16(1):431. doi: 10.1186/s13023-021-02034-6. Orphanet J Rare Dis. 2021. PMID: 34649574 Free PMC article.
36 results