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Page 1
OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.
Arts RJW, van der Linden TJ, van der Made CI, Hendriks MMC, van der Heijden WA, de Mast Q, Schuurs-Hoeijmakers JHM, Simons A, Spaan AN, Mulders-Manders CM, van de Veerdonk FL. Arts RJW, et al. Among authors: simons a. J Clin Immunol. 2023 Dec 22;44(1):10. doi: 10.1007/s10875-023-01630-4. J Clin Immunol. 2023. PMID: 38129331
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Marouane A, Neveling K, Deden AC, van den Heuvel S, Zafeiropoulou D, Castelein S, van de Veerdonk F, Koolen DA, Simons A, Rodenburg R, Westra D, Mensenkamp AR, de Leeuw N, Ligtenberg M, Matthijsse R, Pfundt R, Kamsteeg EJ, Brunner HG, Gilissen C, Feenstra I, de Boode WP, Yntema HG, van Zelst-Stams WAG, Nelen M, Vissers LELM. Marouane A, et al. Among authors: simons a. Front Genet. 2024 Jan 8;14:1304520. doi: 10.3389/fgene.2023.1304520. eCollection 2023. Front Genet. 2024. PMID: 38259611 Free PMC article.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. van der Made CI, et al. Among authors: simons a. Am J Hum Genet. 2024 Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503300 Free PMC article.
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE, Van der Made CI, Smeekens SP, Schuurs-Hoeijmakers JH, Astuti G, Diepstra H, Gilissen C, Hoenselaar E, Janssen A, van Roozendaal K, Engelen JS, Steyaert W, Weiss MM, Yntema HG, Mantere T, AlZahrani MS, van Aerde K, Derfalvi B, Faqeih EA, Henriet SSV, van Hoof E, Idressi E, Issekutz TB, Jongmans MCJ, Keski-Filppula R, Krapels I, Te Loo M, Mulders-Manders CM, Ten Oever J, Potjewijd J, Sarhan NT, Slot MC, Terhal PA, Thijs H, Vandersteen A, Vanhoutte EK, van de Veerdonk F, van Well G, Netea MG; all members of the Radboud University Medical Center multidisciplinary immune-disease board; Simons A, Hoischen A. Vorsteveld EE, et al. Among authors: simons a. Clin Immunol. 2024 Nov;268:110375. doi: 10.1016/j.clim.2024.110375. Epub 2024 Oct 5. Clin Immunol. 2024. PMID: 39369972 Free article.
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.
Zerella JR, Homan CC, Arts P, Lin X, Spinelli SJ, Venugopal P, Babic M, Brautigan PJ, Truong L, Arriola-Martinez L, Moore S, Hollins R, Parker WT, Nguyen H, Kassahn KS, Branford S, Feurstein S, Larcher L, Sicre de Fontbrune F, Demirdas S, de Munnik S, Antoine-Poirel H, Brichard B, Mansour S, Gordon K, Wlodarski MW, Koppayi A, Dobbins S, Mutsaers PGNJ, Nichols KE, Oak N, DeMille D, Mao R, Crawford A, McCarrier J, Basel D, Flores-Daboub J, Drazer MW, Phillips K, Poplawski NK, Birdsey GM, Pirri D, Ostergaard P, Simons A, Godley LA, Ross DM, Hiwase DK, Soulier J, Brown AL, Carmichael CL, Scott HS, Hahn CN. Zerella JR, et al. Among authors: simons a. Blood. 2024 Oct 24;144(17):1765-1780. doi: 10.1182/blood.2024024607. Blood. 2024. PMID: 38991192 Free PMC article.
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.
Willems SPE, Simons A, Saes JL, Weiss M, Rijpma S, Schoormans S, Meijer K, Cnossen MH, Schutgens REG, van Es N, Nieuwenhuizen L, den Exter PL, Kruis IC, Blijlevens NMA, van Heerde WL, Schols SEM. Willems SPE, et al. Among authors: simons a. Res Pract Thromb Haemost. 2024 Jun 17;8(4):102477. doi: 10.1016/j.rpth.2024.102477. eCollection 2024 May. Res Pract Thromb Haemost. 2024. PMID: 39076726 Free PMC article.
The National Joint Registry Data Quality Audit of elbow arthroplasty.
Hamoodi Z, Shapiro J, Sayers A, Whitehouse MR, Watts AC; NJR DQA-Elbows Collaborators; Abbott J, Abbott S, Adebayo O, Ahmad K, Ahrens P, Akinfala M, Al-Hadithy N, Al-Najjar M, Amirfeyz R, Ankarath S, Ashton F, Aulton K, Auplish S, Austin J, Ayeko S, Azhar R, Bahia R, Baines S, Baldomir M, Barai S, Barkham B, Barrett E, Batten T, Bavan L, Baxter J, Beaumont S, Bentley J, Bhabra G, Bhat M, Bhatt A, Bhingraj M, Bhutta A, Bingham S, Blastland J, Boardman D, Boateng M, Bojarska K, Boksh K, Booker S, Borreshi S, Bould M, Boulton L, Brannan L, Breidaka Z, Brereton R, Brinsden M, Brooker J, Brookes S, Broux C, Brown E, Browne J, Bryant R, Buchanan J, Buck L, Burnett K, Burrows M, Burt J, Burton D, Butt U, Campaner B, Candal-Couto J, Carvell H, Chakravarthy J, Chatterji S, Chaudhury S, Chauhan GS, Chojnowski A, Cittambalam J, Clark D, Gosia Clarke M, Clarke B, Clelland A, Cochrane R, Colbridge K, Cook H, Cooper B, Correa E, Craven J, Crawford J, Curtis S, Cuthbert R, Dainton J, Dale L, Davies S, Davis J, Davis V, Dean B, Dehler T, Dennis S, Der Tavitian J, Desai A, Dhillon SS, Dias R, Dickinson G, Dirckx M, Dixon O, Docker C, Dodenhoff R, Domos P, Draviaraj K, Drew S, Duff C, Duffin S, Dur… See abstract for full author list ➔ Hamoodi Z, et al. Among authors: simons a. Bone Joint J. 2024 Dec 1;106-B(12):1461-1468. doi: 10.1302/0301-620X.106B12.BJJ-2023-1372.R1. Bone Joint J. 2024. PMID: 39618239
543 results