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Page 1
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
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.
Bioinformatics services related to diagnosis of primary immunodeficiencies.
Samarghitean C, Vihinen M.
Samarghitean C, et al.
Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):531-6. doi: 10.1097/ACI.0b013e3283327dc1.
Curr Opin Allergy Clin Immunol. 2009.
PMID: 19779331
Review.
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Publisher Correction: 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. Among authors: samarghitean c.
Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6.
Nature. 2020.
PMID: 32678341
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Systematic classification of primary immunodeficiencies based on clinical, pathological, and laboratory parameters.
Samarghitean C, Ortutay C, Vihinen M.
Samarghitean C, et al.
J Immunol. 2009 Dec 1;183(11):7569-75. doi: 10.4049/jimmunol.0901837. Epub 2009 Nov 16.
J Immunol. 2009.
PMID: 19917694
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IDR knowledge base for primary immunodeficiencies.
Samarghitean C, Väliaho J, Vihinen M.
Samarghitean C, et al.
Immunome Res. 2007 Mar 29;3:6. doi: 10.1186/1745-7580-3-6.
Immunome Res. 2007.
PMID: 17394641
Free PMC article.
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Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics.
Samarghitean C, Väliaho J, Vihinen M.
Samarghitean C, et al.
J Clin Immunol. 2004 Jan;24(1):53-61. doi: 10.1023/B:JOCI.0000018063.55963.0c.
J Clin Immunol. 2004.
PMID: 14997034
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