Femke  de Vrij

contact

  • f.devrij@erasmusmc.nl
  • +31 010 70 41191
  • Room: Ee-1432
  • Dr. Molewaterplein 40, Faculty Building, Rotterdam, The Netherlands

Dr. Femke de Vrij (F.M.S.)

Publications

1. 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
in Human genetics 2020

2. Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.

3. Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.

in Nature neuroscience 2019

4. 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
in Human mutation 2019

5. Novel genetic loci affecting facial shape variation in humans.

Xiong Z, Dankova G, Howe LJ, Lee MK, Hysi PG, de Jong MA, Zhu G, Adhikari K, Li D, Li Y, Pan B, Feingold E, Marazita ML, Shaffer JR, McAloney K, Xu SH, Jin L, Wang S, de Vrij FM, Lendemeijer B, Richmond S, Zhurov A, Lewis S, Sharp GC, Paternoster L, Thompson H, Gonzalez-Jose R, Bortolini MC, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Uitterlinden AG, Ikram MA, Wolvius E, Kushner SA, Nijsten TE, Palstra RT, Boehringer S, Medland SE, Tang K, Ruiz-Linares A, Martin NG, Spector TD, Stergiakouli E, Weinberg SM, Liu F, Kayser M
in eLife 2019

6. Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA
in Molecular psychiatry 2018

7. Employed family-based genetic discovery combining linkage analysis and exome sequencing to identify RCL1 as a novel candidate gene for depression, with independent replication in a population-based cohort.

Amin N, de Vrij FMS, Baghdadi M, Brouwer RWW, van Rooij JGJ, Jovanova O, Uitterlinden AG, Hofman A, Janssen HLA, Murad SD, Kraaij R, Stedehouder J, van den Hout MCGN, Kros JM, van IJcken WFJ, Tiemeier H, Kushner SA, van Duijn CM
in Molecular psychiatry 2018

8. Single transcription factor based generation of oligodendrocytes from human pluripotent stem cells.

García-León JA, Kumar M, Boon R, Chau D, One J, Wolfs E, Eggermonts K, Berckmans P, Gunhanlar N, De Vrij FM, Pavie B, Corthout N, Kushner SA, Carlos J, Dávila C, Lambrichts I, Hu WS, Verfaillie CM
in Stem Cell Reports 2018

9. The Zinc Transporter SLC39A7 (ZIP7) Is Essential for Regulation of Cytosolic Zinc Levels.

Woodruff G, Bouwkamp CG, de Vrij FM, Lovenberg T, Bonaventure P, Kushner SA, Harrington AW
in Molecular pharmacology 2018

10. 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
in Neurology. Genetics 2018
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