Research output per year
Research output per year
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Dive into the research topics where Stefan Barakat is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Deng, R., Medico-Salsench, E., Nikoncuk, A., Ramakrishnan, R., Lanko, K., Kühn, N. A., van der Linde, H. C., Lor-Zade, S., Albuainain, F., Shi, Y., Yousefi, S., Capo, I., van den Herik, E. M., van Slegtenhorst, M., van Minkelen, R., Geeven, G., Mulder, M. T., Ruijter, G. J. G., Lütjohann, D., Jacobs, E. H., & 32 others, Aug 2023, In: Acta Neuropathologica. 146, 2, p. 353-368 16 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)5 Downloads (Pure) -
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Harms, F. L., Dingemans, A. J. M., Hempel, M., Pfundt, R., Bierhals, T., Casar, C., Müller, C., Niermeijer, J-M. F., Fischer, J., Jahn, A., Hübner, C., Majore, S., Agolini, E., Novelli, A., van der Smagt, J., Ernst, R., van Binsbergen, E., Mancini, G. M. S., van Slegtenhorst, M., Barakat, T. S., & 7 others, Oct 2023, In: Genetics in Medicine. 25, 10, 100927.Research output: Contribution to journal › Article › Academic › peer-review
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Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
Kassabian, B., Duhring Fenger, C., Willems, M., Aledo-Serrano, A., Linnankivi, T., Pojomovsky McDonnell, P., Lusk, L., Jepsen, B. S., Bayat, M., Kattentidt, A., Abuli Vidal, A., Valero-Lopez, G., Alarcon-Martinez, H., Goodspeed, K., van Slegtenhorst, M., Barakat, S., Moller, R. S., Johannesen, K. M. & Rubboli, G., 12 Jul 2023, In: Frontiers in Neuroscience. 17, p. 01-11 11 p., 1219262.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)2 Downloads (Pure) -
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
on behalf of RADICON-NL consortium, Olde Keizer, R. A. C. M., Marouane, A., Kerstjens-Frederikse, W. S., Deden, A. C., Lichtenbelt, K. D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L. S., Sinke, R. J., Pfundt, R., Stevens, S. J. C., Andriessen, P., van Lingen, R. A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C., & 31 others, Jun 2023, In: European Journal of Pediatrics. 182, 6, p. 2683-2692 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Calame, D. G., Herman, I., Maroofian, R., Marshall, A. E., Donis, K. C., Fatih, J. M., Mitani, T., Du, H., Grochowski, C. M., Sousa, S. B., Gijavanekar, C., Bakhtiari, S., Ito, Y. A., Rocca, C., Hunter, J. V., Sutton, V. R., Emrick, L. T., Boycott, K. M., Lossos, A., Fellig, Y., & 45 others, Aug 2022, In: Annals of Neurology. 92, 2, p. 304-321 18 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access
Prizes
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EpilepsieNL Research Grant 2022
Barakat, Stefan (Recipient), 2022
Prize: Fellowship awarded competitively
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Press/Media
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Al 15 jaar lijden twee broers aan een onbekende ziekte, totdat Stefan Barakat ontdekt hoe het zit
25/05/23
1 Media contribution
Press/Media: Research › Popular
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Zeeuwse onderzoeker Stefan Barakat ontdekt nieuw ziekte-gen en zebravisjes helpen hem daarbij
22/05/23
1 Media contribution
Press/Media: Research › Popular
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Speuren naar genetische foutjes in het DNA. ‘We zoeken naar spelden in een hooiberg’ Trouw
5/02/22
1 Media contribution
Press/Media: Research › Academic