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, p. 350-351 2 p.

Research output: Contribution to journal › Letter › 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 othersBrouwer, 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., Mar-2021, In: BMJ Open. 11, 3, 22 p., e044474.

Research output: Contribution to journal › Article › 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 p., e0255402.

Research output: Contribution to journal › Article › 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 othersKruisselbrink, 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, p. 770-782 13 p.

Research output: Contribution to journal › Review article › peer-review

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Herkert, J. C., Verhagen, J. M. A., Yotti, R., Haghighi, A., Phelan, D. G., James, P. A., Brown, N. J., Stutterd, C., Macciocca, I., Leong, KE., Bulthuis, M. L. C., van Bever, Y., van Slegtenhorst, M. A., Boven, L. G., Roberts, A. E., Agarwal, R., Seidman, J., Lakdawala, N. K., Fernández-Avilés, F., Burke, M. A., & 12 othersPierpont, M. E., Braunlin, E., Ḉağlayan, A. O., Barge-Schaapveld, D. Q. C. M., Birnie, E., van Osch-Gevers, L., van Langen, I. M., Jongbloed, J. D. H., Lockhart, P. J., Amor, D. J., Seidman, C. E. & van de Laar, I. M. B. H., Jul-2020, In: American Heart Journal. 225, p. 108-119 12 p.

Research output: Contribution to journal › Article › Academic › peer-review