Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Levitin, M. O., Rawlins, L. E., Sanchez-Andrade, G., Arshad, O. A., Collins, S. C., Sawiak, S. J., Iffland, P. H., Andersson, M. H. L., Bupp, C., Cambridge, E. L., Coomber, E. L., Ellis, I., Herkert, J. C., Ironfield, H., Jory, L., Kretz, P. F., Kant, S. G., Neaverson, A., Nibbeling, E., Rowley, C., & 24 anderenRelton, E., Sanderson, M., Scott, E. M., Stewart, H., Shuen, A. Y., Schreiber, J., Tuck, L., Tonks, J., Terkelsen, T., van Ravenswaaij-Arts, C., Vasudevan, P., Wenger, O., Wright, M., Day, A., Hunter, A., Patel, M., Lelliott, C. J., Crino, P. B., Yalcin, B., Crosby, A., Baple, E. L., Logan, D. W., Hurles, M. E. & Gerety, S. S., 12-jul.-2023, (E-pub ahead of print) In: Brain : a Journal of Neurology.

Onderzoeksoutput › Academic › peer review

Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy

Leeuwen, L., Lubout, C. M. A., Nijenhuis, H. P., Meiners, L. C., Vos, Y. J. & Herkert, J. C., 2022, In: Clinical Genetics. 102, 4, blz. 350-351 2 blz.

Onderzoeksoutput › Academic › peer review

Lifelines COVID-19 cohort: investigating COVID-19 infection and its health and societal impacts in a Dutch population-based cohort

Mc Intyre, K., Lanting, P., Deelen, P., Wiersma, H. H., Vonk, J. M., Ori, A. P. S., Jankipersadsing, S. A., Warmerdam, R., van Blokland, I., Boulogne, F., Dijkema, M. X. L., Herkert, J. C., Claringbould, A., Bakker, O., Lopera Maya, E. A., Bültmann, U., Zhernakova, A., Reijneveld, S. A., Zijlstra, E., Swertz, M. A., & 11 anderenBrouwer, S., van Ooijen, R., Angelini, V., Dekker, L. H., Sijtsma, A., Scherjon, S. A., Wijmenga, C., Dekens, J. A. M., Mierau, J., Boezen, H. M. & Franke, L., mrt.-2021, In: BMJ Open. 11, 3, 22 blz., e044474.

Onderzoeksoutput › Academic › peer review

Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility

Lifelines COVID-19 cohort study, van Blokland, I. V., Lanting, P., Ori, A. P. S., Vonk, J. M., Warmerdam, R. C. A., Herkert, J. C., Boulogne, F., Claringbould, A., Lopera-Maya, E. A., Bartels, M., Hottenga, J-J., Ganna, A. & Karjalainen, J., 11-aug.-2021, In: PLoS ONE. 16, 8, 18 blz., e0255402.

Onderzoeksoutput › Academic › peer review

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

CAUSES Study, Nambot, S., Faivre, L., Mirzaa, G., Thevenon, J., Bruel, A-L., Mosca-Boidron, A-L., Masurel-Paulet, A., Goldenberg, A., Le Meur, N., Charollais, A., Mignot, C., Petit, F., Rossi, M., Metreau, J., Layet, V., Amram, D., Boute-Benejean, O., Bhoj, E., Cousin, M. A., & 31 anderenKruisselbrink, T. M., Lanpher, B. C., Klee, E. W., Fiala, E., Grange, D. K., Meschino, W. S., Hiatt, S. M., Cooper, G. M., Olivie, H., Smith, W. E., Dumas, M., Lehman, A., Adam, S., du Souich, C., Elliott, A. M., Mwenifumbo, J., Nelson, T. N., van Karnebeek, C., Friedman, J. M., Inglese, C., Nizon, M., Guerrini, R., Vetro, A., Kaplan, E. S., Miramar, D., Van Gils, J., Fergelot, P., Bodamer, O., Herkert, J. C., Pajusalu, S. & Li, D., 1-jun.-2020, In: European Journal of Human Genetics. 28, 6, blz. 770-782 13 blz.

Onderzoeksoutput › peer review