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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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
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DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
Vos, N., Reilly, J., Elting, M. W., Campeau, P. M., Coman, D., Stark, Z., Tan, T. Y., Amor, D. J., Kaur, S., StJohn, M., Morgan, A. T., Kamien, B. A., Patel, C., Tedder, M. L., Merla, G., Prontera, P., Castori, M., Muru, K., Collins, F., Christodoulou, J., & 13 others , 1 Mar 2023, In: Epigenomics. 15, 6, p. 351-367 17 p.Research output: Contribution to journal › Article › Academic › peer-review
1 Citation (Scopus)
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