Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1994 1
1996 1
1997 1
1998 1
1999 1
2000 2
2004 2
2005 1
2009 3
2010 5
2011 4
2012 2
2013 1
2014 6
2015 4
2016 6
2017 6
2018 7
2019 6
2020 5
2021 7
2022 6
2023 4

Text availability

Article attribute

Article type

Publication date

Search Results

71 results

Results by year

Filters applied: . Clear all
Page 1
A germline STAT6 gain-of-function variant is associated with early-onset allergies.
Suratannon N, Ittiwut C, Dik WA, Ittiwut R, Meesilpavikkai K, Israsena N, Ingrungruanglert P, Dalm VASH, van Daele PLA, Sanpavat A, Chaijitraruch N, Schrijver B, Buranapraditkun S, Porntaveetus T, Swagemakers SMA, IJspeert H, Palaga T, Suphapeetiporn K, van der Spek PJ, Hirankarn N, Chatchatee P, Martin van Hagen P, Shotelersuk V. Suratannon N, et al. Among authors: swagemakers sma. J Allergy Clin Immunol. 2023 Feb;151(2):565-571.e9. doi: 10.1016/j.jaci.2022.09.028. Epub 2022 Oct 7. J Allergy Clin Immunol. 2023. PMID: 36216080
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: swagemakers sma. Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14. Genet Med. 2022. PMID: 35833929 Free article.
A novel mutation in FGFR2.
Goos JA, van den Ouweland AM, Swagemakers SM, Verkerk AJ, Hoogeboom AJ, van Veelen ML, Mathijssen IM, van der Spek PJ. Goos JA, et al. Among authors: swagemakers sm. Am J Med Genet A. 2015 Jan;167A(1):123-7. doi: 10.1002/ajmg.a.36827. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425289
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium; Boyadjiev SA, Wilkie AOM. Calpena E, et al. Among authors: swagemakers sma. Genet Med. 2020 Sep;22(9):1567. doi: 10.1038/s41436-020-0886-2. Genet Med. 2020. PMID: 32636483 Free PMC article.
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium; Boyadjiev SA, Wilkie AOM. Calpena E, et al. Among authors: swagemakers sma. Genet Med. 2020 Sep;22(9):1498-1506. doi: 10.1038/s41436-020-0817-2. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499606 Free PMC article.
Pollitt syndrome patients carry mutation in TTDN1.
Swagemakers SM, Jaspers NG, Raams A, Heijsman D, Vermeulen W, Troelstra C, Kremer A, Lincoln SE, Tearle R, Hoeijmakers JH, van der Spek PJ. Swagemakers SM, et al. Meta Gene. 2014 Aug 30;2:616-8. doi: 10.1016/j.mgene.2014.08.001. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606444 Free PMC article.
Exploring Differentially Methylated Genes in Vulvar Squamous Cell Carcinoma.
Dasgupta S, Ewing-Graham PC, Swagemakers SMA, van den Bosch TPP, Atmodimedjo PN, Verbiest MMPJ, de Haan M, van Doorn HC, van der Spek PJ, Koljenović S, van Kemenade FJ. Dasgupta S, et al. Among authors: swagemakers sma. Cancers (Basel). 2021 Jul 16;13(14):3580. doi: 10.3390/cancers13143580. Cancers (Basel). 2021. PMID: 34298793 Free PMC article.
Vitreous proteomics, a gateway to improved understanding and stratification of diverse uveitis aetiologies.
Schrijver B, Kolijn PM, Ten Berge JCEM, Nagtzaam NMA, van Rijswijk ALCT, Swagemakers SMA, van der Spek PJ, Missotten TOAR, van Velthoven MEJ, de Hoog J, van Hagen PM, Langerak AW, Dik WA. Schrijver B, et al. Among authors: swagemakers sma. Acta Ophthalmol. 2022 Jun;100(4):403-413. doi: 10.1111/aos.14993. Epub 2021 Jul 28. Acta Ophthalmol. 2022. PMID: 34318583 Free PMC article.
71 results