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Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Tran Mau-Them F, Moutton S, Racine C, Vitobello A, Bruel AL, Nambot S, Kushner SA, de Vrij FMS, Lehalle D, Jean-Marçais N, Lecoquierre F, Delanne J, Thevenon J, Poe C, Jouan T, Chevarin M, Geneviève D, Willems M, Coubes C, Houcinat N, Masurel-Paulet A, Mosca-Boidron AL, Tisserant E, Callier P, Sorlin A, Duffourd Y, Faivre L, Philippe C, Thauvin-Robinet C. Tran Mau-Them F, et al. Among authors: de vrij fms. Hum Genet. 2020 Nov;139(11):1381-1390. doi: 10.1007/s00439-020-02178-8. Epub 2020 May 12. Hum Genet. 2020. PMID: 32399599
Standardizing designed and emergent quantitative features in microphysiological systems.
Nahon DM, Moerkens R, Aydogmus H, Lendemeijer B, Martínez-Silgado A, Stein JM, Dostanić M, Frimat JP, Gontan C, de Graaf MNS, Hu M, Kasi DG, Koch LS, Le KTT, Lim S, Middelkamp HHT, Mooiweer J, Motreuil-Ragot P, Niggl E, Pleguezuelos-Manzano C, Puschhof J, Revyn N, Rivera-Arbelaez JM, Slager J, Windt LM, Zakharova M, van Meer BJ, Orlova VV, de Vrij FMS, Withoff S, Mastrangeli M, van der Meer AD, Mummery CL. Nahon DM, et al. Among authors: de vrij fms. Nat Biomed Eng. 2024 Aug;8(8):941-962. doi: 10.1038/s41551-024-01236-0. Epub 2024 Aug 26. Nat Biomed Eng. 2024. PMID: 39187664 Review.
A rare missense variant in RCL1 segregates with depression in extended families.
Amin N, de Vrij FMS, Baghdadi M, Brouwer RWW, van Rooij JGJ, Jovanova O, Uitterlinden AG, Hofman A, Janssen HLA, Darwish Murad S, Kraaij R, Stedehouder J, van den Hout MCGN, Kros JM, van IJcken WFJ, Tiemeier H, Kushner SA, van Duijn CM. Amin N, et al. Among authors: de vrij fms. Mol Psychiatry. 2018 May;23(5):1120-1126. doi: 10.1038/mp.2017.49. Epub 2017 Mar 21. Mol Psychiatry. 2018. PMID: 28322274 Free PMC article.
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.
Bouwkamp CG, Afawi Z, Fattal-Valevski A, Krabbendam IE, Rivetti S, Masalha R, Quadri M, Breedveld GJ, Mandel H, Tailakh MA, Beverloo HB, Stevanin G, Brice A, van IJcken WFJ, Vernooij MW, Dolga AM, de Vrij FMS, Bonifati V, Kushner SA. Bouwkamp CG, et al. Among authors: de vrij fms. Neurol Genet. 2018 Mar 21;4(2):e223. doi: 10.1212/NXG.0000000000000223. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29577077 Free PMC article.
A functional variant in the miR-142 promoter modulating its expression and conferring risk of Alzheimer disease.
Ghanbari M, Munshi ST, Ma B, Lendemeijer B, Bansal S, Adams HH, Wang W, Goth K, Slump DE, van den Hout MCGN, van IJcken WFJ, Bellusci S, Pan Q, Erkeland SJ, de Vrij FMS, Kushner SA, Ikram MA. Ghanbari M, et al. Among authors: de vrij fms. Hum Mutat. 2019 Nov;40(11):2131-2145. doi: 10.1002/humu.23872. Epub 2019 Aug 7. Hum Mutat. 2019. PMID: 31322790
The neuroinvasiveness, neurotropism, and neurovirulence of SARS-CoV-2.
Bauer L, Laksono BM, de Vrij FMS, Kushner SA, Harschnitz O, van Riel D. Bauer L, et al. Among authors: de vrij fms. Trends Neurosci. 2022 May;45(5):358-368. doi: 10.1016/j.tins.2022.02.006. Epub 2022 Mar 3. Trends Neurosci. 2022. PMID: 35279295 Free PMC article. Review.
In vitro and in vivo differences in neurovirulence between D614G, Delta And Omicron BA.1 SARS-CoV-2 variants.
Bauer L, Rissmann M, Benavides FFW, Leijten L, van Run P, Begeman L, Veldhuis Kroeze EJB, Lendemeijer B, Smeenk H, de Vrij FMS, Kushner SA, Koopmans MPG, Rockx B, van Riel D. Bauer L, et al. Among authors: de vrij fms. Acta Neuropathol Commun. 2022 Sep 5;10(1):124. doi: 10.1186/s40478-022-01426-4. Acta Neuropathol Commun. 2022. PMID: 36058935 Free PMC article.
42 results