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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.
Exome-sequencing in a large population-based study reveals a rare Asn396Ser variant in the LIPG gene associated with depressive symptoms.
Amin N, Jovanova O, Adams HH, Dehghan A, Kavousi M, Vernooij MW, Peeters RP, de Vrij FM, van der Lee SJ, van Rooij JG, van Leeuwen EM, Chaker L, Demirkan A, Hofman A, Brouwer RW, Kraaij R, Willems van Dijk K, Hankemeier T, van Ijcken WF, Uitterlinden AG, Niessen WJ, Franco OH, Kushner SA, Ikram MA, Tiemeier H, van Duijn CM. Amin N, et al. Mol Psychiatry. 2017 Apr;22(4):634. doi: 10.1038/mp.2016.141. Epub 2016 Aug 9. Mol Psychiatry. 2017. PMID: 27502476 No abstract available.
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
The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals.
Vanhauwaert R, Kuenen S, Masius R, Bademosi A, Manetsberger J, Schoovaerts N, Bounti L, Gontcharenko S, Swerts J, Vilain S, Picillo M, Barone P, Munshi ST, de Vrij FM, Kushner SA, Gounko NV, Mandemakers W, Bonifati V, Meunier FA, Soukup SF, Verstreken P. Vanhauwaert R, et al. EMBO J. 2017 May 15;36(10):1392-1411. doi: 10.15252/embj.201695773. Epub 2017 Mar 22. EMBO J. 2017. PMID: 28331029 Free PMC article.
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.
40 results