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

Text availability

Article attribute

Article type

Publication date

Search Results

76 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
Solouki AM, Verhoeven VJ, van Duijn CM, Verkerk AJ, Ikram MK, Hysi PG, Despriet DD, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M, Kuijpers RW, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag FC, Young TL, Mackey DA, Spector TD, Gorgels TG, Willemse-Assink JJ, Isaacs A, Kramer R, Swagemakers SM, Bergen AA, van Oosterhout AA, Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PT, Hammond CJ, Vingerling JR, Klaver CC. Solouki AM, et al. Among authors: swagemakers sm. Nat Genet. 2010 Oct;42(10):897-901. doi: 10.1038/ng.663. Epub 2010 Sep 12. Nat Genet. 2010. PMID: 20835239 Free PMC 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
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.
Verkerk AJMH, Zeidler S, Breedveld G, Overbeek L, Huigh D, Koster L, van der Linde H, de Esch C, Severijnen LA, de Vries BBA, Swagemakers SMA, Willemsen R, Hoogeboom AJM, van der Spek PJ, Oostra BA. Verkerk AJMH, et al. Eur J Hum Genet. 2018 Apr;26(4):552-560. doi: 10.1038/s41431-017-0051-9. Epub 2018 Jan 26. Eur J Hum Genet. 2018. PMID: 29374277 Free PMC article.
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N, van Wijck RTA, Broer L, Xue L, van Meurs JBJ, Barendregt BH, van der Burg M, Dik WA, Chatchatee P, Langerak AW, Swagemakers SMA, Goos JAC, Mathijssen IMJ, Dalm VASH, Suphapeetiporn K, Heezen KC, Drabwell J, Uitterlinden AG, van der Spek PJ, van Hagen PM; South East Asia Primary Immunodeficiencies (SEAPID) Consortium. Suratannon N, et al. Front Immunol. 2020 Apr 15;11:614. doi: 10.3389/fimmu.2020.00614. eCollection 2020. Front Immunol. 2020. PMID: 32373116 Free PMC article.
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO. Miller KA, et al. Among authors: swagemakers sm. J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24. J Med Genet. 2017. PMID: 27884935 Free PMC article.
A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A. Potuijt JWP, et al. Among authors: swagemakers sm. Genet Med. 2018 Nov;20(11):1405-1413. doi: 10.1038/gim.2018.18. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543231 Free article.
76 results