Projects per year
Collaborations and top research areas from the last five years
Projects
- 1 Active
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Mannens M.M.A.M.: Clinical Molecular Genetics with emphasis on cardiogenetics and growth malformations
Ensink, J., Krzyzewska, I., Li Yim, A., Mannens, M., Alders, M., Bikker, H., Henneman, P., van Koningsbruggen, S., Lekanne Dit Deprez, R., Lombardi, P., Mook, O., Motazacker, M. & Redeker, B.
1/02/2007 → …
Project: Research
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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, M. P., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S., & 67 others , 13 Jan 2022, In: Human Genetics and Genomics Advances. 3, 1, p. 100075Research output: Contribution to journal › Article › Academic › peer-review
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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
van der Laan, L., Lauffer, P., Rooney, K., Silva, A., Haghshenas, S., Relator, R., Levy, M. A., Trajkova, S., Huisman, S. A., Bijlsma, E. K., Kleefstra, T., van Bon, B. W., Baysal, Ö., Zweier, C., Palomares-Bralo, M., Fischer, J., Szakszon, K., Faivre, L., Piton, A., Mesman, S., & 14 others , 2 Apr 2024, (E-pub ahead of print) In: Human Genetics and Genomics Advances. p. 100289Research output: Contribution to journal › Article › Academic › peer-review
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Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
Karimi, K., Mol, M. O., Haghshenas, S., Relator, R., Levy, M. A., Kerkhof, J., McConkey, H., Brooks, A., Zonneveld-Huijssoon, E., Gerkes, E. H., Tedder, M. L., Vissers, L., Salzano, E., Piccione, M., Asaftei, S. D., Carli, D., Mussa, A., Shukarova-Angelovska, E., Trajkova, S., Brusco, A., & 4 others , 1 Mar 2024, In: Genetics in medicine. 26, 3, 101041.Research output: Contribution to journal › Article › Academic › peer-review
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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
D’Incal, C. P., Annear, D. J., Elinck, E., van der Smagt, J. J., Alders, M., Dingemans, A. J. M., Mateiu, L., de Vries, B. B. A., Vanden Berghe, W. & Kooy, R. F., 2024, (E-pub ahead of print) In: European journal of human genetics.Research output: Contribution to journal › Article › Academic › peer-review
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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
MKHK Research Consortium, 28 Mar 2024, (E-pub ahead of print) In: Human Genetics and Genomics Advances. p. 100287Research output: Contribution to journal › Article › Academic › peer-review
Datasets
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MOESM4 of A genome-wide DNA methylation signature for SETD1B-related syndrome
Krzyzewska, I. (Contributor), Maas, S. (Contributor), Henneman, P. (Contributor), Lip, K. V. D. (Contributor), Venema, A. (Contributor), Baranano, K. (Contributor), Chassevent, A. (Contributor), Aref-Eshghi, E. (Contributor), Fukuda, T. (Contributor), Ikeda, H. (Contributor), Jacquemont, M. (Contributor), Kim, H. (Contributor), Labalme, A. (Contributor), Lewis, S. M. E. (Contributor), Lesca, G. (Contributor), Madrigal, I. (Contributor), Mahida, S. (Contributor), Matsumoto, N. (Contributor), Rabionet, R. (Contributor), Rajcan-Separovic, E. (Contributor), Qiao, Y. (Contributor), Sadikovic, B. (Contributor), Saitsu, H. (Contributor), Sweetser, D. A. (Contributor), Alders, M. (Contributor) & Mannens, M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.10252091, https://springernature.figshare.com/articles/MOESM4_of_A_genome-wide_DNA_methylation_signature_for_SETD1B-related_syndrome/10252091
Dataset
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MOESM3 of A genome-wide DNA methylation signature for SETD1B-related syndrome
Krzyzewska, I. (Contributor), Maas, S. (Contributor), Henneman, P. (Contributor), Lip, K. V. D. (Contributor), Venema, A. (Contributor), Baranano, K. (Contributor), Chassevent, A. (Contributor), Aref-Eshghi, E. (Contributor), Fukuda, T. (Contributor), Ikeda, H. (Contributor), Jacquemont, M. (Contributor), Kim, H. (Contributor), Labalme, A. (Contributor), Lewis, S. M. E. (Contributor), Lesca, G. (Contributor), Madrigal, I. (Contributor), Mahida, S. (Contributor), Matsumoto, N. (Contributor), Rabionet, R. (Contributor), Rajcan-Separovic, E. (Contributor), Qiao, Y. (Contributor), Sadikovic, B. (Contributor), Saitsu, H. (Contributor), Sweetser, D. A. (Contributor), Alders, M. (Contributor) & Mannens, M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.10252082, https://springernature.figshare.com/articles/MOESM3_of_A_genome-wide_DNA_methylation_signature_for_SETD1B-related_syndrome/10252082
Dataset
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MOESM2 of A genome-wide DNA methylation signature for SETD1B-related syndrome
Krzyzewska, I. (Contributor), Maas, S. (Contributor), Henneman, P. (Contributor), Lip, K. V. D. (Contributor), Venema, A. (Contributor), Baranano, K. (Contributor), Chassevent, A. (Contributor), Aref-Eshghi, E. (Contributor), Fukuda, T. (Contributor), Ikeda, H. (Contributor), Jacquemont, M. (Contributor), Kim, H. (Contributor), Labalme, A. (Contributor), Lewis, S. M. E. (Contributor), Lesca, G. (Contributor), Madrigal, I. (Contributor), Mahida, S. (Contributor), Matsumoto, N. (Contributor), Rabionet, R. (Contributor), Rajcan-Separovic, E. (Contributor), Qiao, Y. (Contributor), Sadikovic, B. (Contributor), Saitsu, H. (Contributor), Sweetser, D. A. (Contributor), Alders, M. (Contributor) & Mannens, M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.10252073, https://springernature.figshare.com/articles/MOESM2_of_A_genome-wide_DNA_methylation_signature_for_SETD1B-related_syndrome/10252073
Dataset
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MOESM3 of A genome-wide DNA methylation signature for SETD1B-related syndrome
Krzyzewska, I. (Contributor), Maas, S. (Contributor), Henneman, P. (Contributor), Lip, K. V. D. (Contributor), Venema, A. (Contributor), Baranano, K. (Contributor), Chassevent, A. (Contributor), Aref-Eshghi, E. (Contributor), Fukuda, T. (Contributor), Ikeda, H. (Contributor), Jacquemont, M. (Contributor), Kim, H. (Contributor), Labalme, A. (Contributor), Lewis, S. M. E. (Contributor), Lesca, G. (Contributor), Madrigal, I. (Contributor), Mahida, S. (Contributor), Matsumoto, N. (Contributor), Rabionet, R. (Contributor), Rajcan-Separovic, E. (Contributor), Qiao, Y. (Contributor), Sadikovic, B. (Contributor), Saitsu, H. (Contributor), Sweetser, D. A. (Contributor), Alders, M. (Contributor) & Mannens, M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.10252082.v1, https://springernature.figshare.com/articles/MOESM3_of_A_genome-wide_DNA_methylation_signature_for_SETD1B-related_syndrome/10252082/1
Dataset
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MOESM4 of A genome-wide DNA methylation signature for SETD1B-related syndrome
Krzyzewska, I. (Contributor), Maas, S. (Contributor), Henneman, P. (Contributor), Lip, K. V. D. (Contributor), Venema, A. (Contributor), Baranano, K. (Contributor), Chassevent, A. (Contributor), Aref-Eshghi, E. (Contributor), Fukuda, T. (Contributor), Ikeda, H. (Contributor), Jacquemont, M. (Contributor), Kim, H. (Contributor), Labalme, A. (Contributor), Lewis, S. M. E. (Contributor), Lesca, G. (Contributor), Madrigal, I. (Contributor), Mahida, S. (Contributor), Matsumoto, N. (Contributor), Rabionet, R. (Contributor), Rajcan-Separovic, E. (Contributor), Qiao, Y. (Contributor), Sadikovic, B. (Contributor), Saitsu, H. (Contributor), Sweetser, D. A. (Contributor), Alders, M. (Contributor) & Mannens, M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.10252091.v1, https://springernature.figshare.com/articles/MOESM4_of_A_genome-wide_DNA_methylation_signature_for_SETD1B-related_syndrome/10252091/1
Dataset