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553 results

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Page 1
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.
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.
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.
Bleeding symptoms in persons with rare bleeding disorders and a heterozygous genotype: data from the Rare Bleeding Disorders in the Netherlands study.
Willems SPE, Cnossen MH, van Es N, den Exter PL, Kruis IC, Maas DPMSM, Meijer K, Nieuwenhuizen L, Rijpma S, Saes JL, Simons A, Schutgens REG, Weiss M, Blijlevens NMA, van Heerde WL, Schols SEM. Willems SPE, et al. Among authors: simons a. J Thromb Haemost. 2025 Jun;23(6):1787-1799. doi: 10.1016/j.jtha.2025.02.030. Epub 2025 Mar 6. J Thromb Haemost. 2025. PMID: 40056984 Free article.
Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.
Venugopal P, Arts P, Fox LC, Simons A, Hiwase DK, Bardy PG, Swift A, Ross DM, van Vulpen LFD, Buijs A, Bolton KL, Getta B, Furlong E, Carter T, Krapels I, Hoeks M, Al Kindy A, Al Kindy F, de Munnik S, Evans P, Frank MSB, Bournazos AM, Cooper ST, Ha TT, Jackson MR, Arriola-Martinez L, Phillips K, Brennan Y, Bakshi M, Ambler K, Gao S, Kassahn KS, Kenyon R, Hung K, Babic M, McGovern A, Rawlings L, Vakulin C, Dejong L, Fathi R, McRae S, Myles N, Ladon D, Jongmans M, Kuiper RP, Poplawski NK, Barbaro P, Blombery P, Brown AL, Hahn CN, Scott HS. Venugopal P, et al. Among authors: simons a. Blood Adv. 2024 Jul 9;8(13):3437-3443. doi: 10.1182/bloodadvances.2023012331. Blood Adv. 2024. PMID: 38662475 Free PMC article. No abstract available.
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.
553 results