1. 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

2. 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

3. Improving diagnostic yield of exome-sequencing through prioritization of genes with predicted HPO assignments

   Deelen, P., van Dam, S., Karjalainen, J. M., Brugge, H., Folkertsma, P., van Diemen, C. C., Kerstjens-Frederikse, W. S., Herkert, J. C., Gillett, T., Swertz, M. A. & Franke, L., Jul-2019, In : European Journal of Human Genetics. 27, p. 537-537 1 p.

   Research output: Contribution to journal › Meeting Abstract › Academic

4. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

   van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Woedl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K., De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S. & Mancini, G. M. S., Sep-2019, In : Genetics in Medicine. 21, 9, p. 2160-2161 2 p.

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

5. Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

   Verhagen, J. M. A., van den Born, M., van der Linde, H. C., Nikkels, P. G. J., Verdijk, R. M., Kivlen, M. H., van Unen, L. M. A., Baas, A. F., ter Heide, H., van Osch-Gevers, L., Hoogeveen-Westerveld, M., Herkert, J. C., Bertoli-Avella, A. M., van Slegtenhorst, M. A., Wessels, M. W., Verheijen, F. W., Hassel, D., Hofstra, R. M. W., Hegde, R. S., van Hasselt, P. M., van Ham, T. J. & van de Laar, I. M. B. H., Sep-2019, In : Circulation. Genomic and precision medicine. 12, 9, p. 397-406 10 p.

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

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