dr. J.C. Herkert

Telephone:
E-mail:
j.c.herkert umcg.nl
Research
Publications
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., Kruisselbrink, 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., Jun-2020, In : European Journal of Human Genetics. 28, 6, p. 770-782 13 p.Research output: Contribution to journal › Review article › Academic › 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., Pierpont, 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
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum
Barnicoat, A., Low, K., Gerkes, E. H., Fry, A. E., Parker, M. J., O'Driscoll, M., Charles, P., Cox, H., Marey, I., Keren, B., Rinne, T., McEntagart, M., Ramachandran, V., Drury, S., Vansenne, F., Sival, D. A., Herkert, J. C., Callewaert, B., Tan, W-H. & Balasubramanian, M., May-2020, In : Human Mutation. 41, 5, p. 1042-1050 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Something old, something new: two syndromes associated with pediatric-onset cardiomyopathy
Herkert, J. C., van Essen, A. J. & van Langen, I. M., Oct-2019, In : European Journal of Human Genetics. 27, p. 1308-1309 2 p.Research output: Contribution to journal › Meeting Abstract › Academic
Rapid whole exome sequencing in critically ill children
Kerstjens-Frederikse, W. S., van der Hout, A. H., Vos, Y. J., Dijkhuizen, T., Verheij, J. B. G. M., van Langen, I. M., Sikkema-Raddatz, B., de Groot, M. J., Drok, H. H. J., Kinds, R., Beunders, G., Zonneveld-Huijssoon, E., Herkert, J. C., Vansenne, F., Wassink-Ruiter, J. S. K., Gerkes, E., van der Velde, K. J., Swertz, M. A., Sinke, R. J. & van Diemen, C. C., Jul-2019, In : European Journal of Human Genetics. 27, p. 508-509 2 p.Research output: Contribution to journal › Meeting Abstract › Academic
ID: 234709