Mariëlle Alders

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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

132 Article
7 Comment/Letter to the editor
7 Review article
2 Chapter
More

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 othersHilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, E., Pallares, N. R., Piccione, M., Pizzi, S., Plomp, A. S., Poulton, C., Reilly, J., Relator, R., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., St John, M., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T., Banka, S., Gecz, J., Henneman, P., Lee, J. A., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Kerrnohan, K. D., McNeill, A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L., Sadikovic, B. & Menke, L. A., 13 Jan 2022, In: Human Genetics and Genomics Advances. 3, 1, p. 100075
Research output: Contribution to journal › Article › Academic › peer-review
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 othersHochstenbach, R., Elting, M. W., van Hagen, J. M., Plomp, A. S., Mannens, M. M. A. M., Alders, M., van Haelst, M. M., Ferrero, G. B., Brusco, A., Henneman, P., Sweetser, D. A., Sadikovic, B., Vitobello, A. & Menke, L. A., 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100289 100289.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

1 Citation (Scopus)
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 othersMerla, G., Alders, M. M., Bouman, A. & Sadikovic, B., 1 Mar 2024, In: Genetics in medicine. 26, 3, 101041.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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., Jun 2024, In: European journal of human genetics. 32, 6, p. 630-638 9 p.
Research output: Contribution to journal › Article › Academic › peer-review

1 Citation (Scopus)
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
MKHK Research Consortium, 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100287 100287.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

Code for down-sampling analysis and human-chimpanzee model
Jia, X. (Contributor), Zhang, S. (Contributor), Tan, S. (Contributor), Du, B. (Contributor), He, M. (Contributor), Qin, H. (Contributor), Chen, J. (Contributor), Duan, X. (Contributor), Luo, J. (Contributor), Chen, F. (Contributor), Ouyang, L. (Contributor), Wang, J. (Contributor), Chen, G. (Contributor), Yu, B. (Contributor), Zhang, G. (Contributor), Zhang, Z. (Contributor), Lyu, Y. (Contributor), Huang, Y. (Contributor), Jiao, J. (Contributor), Chen, J. Y. H. (Contributor), Swoboda, K. J. (Contributor), Agolini, E. (Contributor), Novelli, A. (Contributor), Leoni, C. (Contributor), Zampino, G. (Contributor), Cappuccio, G. (Contributor), Brunetti-Pierri, N. (Contributor), Gerard, B. (Contributor), Ginglinger, E. (Contributor), Richer, J. (Contributor), McMillan, H. (Contributor), White-Brown, A. (Contributor), Hoekzema, K. (Contributor), Bernier, R. A. (Contributor), Kurtz-Nelson, E. C. (Contributor), Earl, R. K. (Contributor), Meddens, C. (Contributor), Alders, M. (Contributor), Fuchs, M. (Contributor), Caumes, R. (Contributor), Brunelle, P. (Contributor), Smol, T. (Contributor), Kuehl, R. (Contributor), Day-Salvatore, D. (Contributor), Monaghan, K. G. (Contributor), Morrow, M. M. (Contributor), Eichler, E. E. (Contributor), Hu, Z. (Contributor), Yuan, L. (Contributor), Tan, J. (Contributor), Xia, K. (Contributor), Shen, Y. (Contributor) & Guo, H. (Creator), Science Data Bank, 2 Jun 2022
DOI: 10.57760/sciencedb.01817, https://www.scidb.cn/en/detail?dataSetId=1451200e655a442bbb18ca000c71200f
Dataset
Additional file 2: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. (Contributor), Alders, M. (Contributor), Maas, S. (Contributor), Bliek, J. (Contributor), Venema, A. (Contributor), Henneman, P. (Contributor), Rezwan, F. I. (Contributor), Lip, K. V. D. (Contributor), Mul, A. N. (Contributor), Mackay, D. J. G. (Contributor) & Mannens, M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.7878881.v1, https://springernature.figshare.com/articles/Additional_file_2_of_Genome-wide_methylation_profiling_of_Beckwith-Wiedemann_syndrome_patients_without_molecular_confirmation_after_routine_diagnostics/7878881/1
Dataset
Additional file 7: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. (Contributor), Alders, M. (Contributor), Maas, S. (Contributor), Bliek, J. (Contributor), Venema, A. (Contributor), Henneman, P. (Contributor), Rezwan, F. I. (Contributor), Lip, K. V. D. (Contributor), Mul, A. N. (Contributor), Mackay, D. J. G. (Contributor) & Mannens, M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.7878920, https://springernature.figshare.com/articles/Additional_file_7_of_Genome-wide_methylation_profiling_of_Beckwith-Wiedemann_syndrome_patients_without_molecular_confirmation_after_routine_diagnostics/7878920
Dataset
Additional file 9: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. (Contributor), Alders, M. (Contributor), Maas, S. (Contributor), Bliek, J. (Contributor), Venema, A. (Contributor), Henneman, P. (Contributor), Rezwan, F. I. (Contributor), Lip, K. V. D. (Contributor), Mul, A. N. (Contributor), Mackay, D. J. G. (Contributor) & Mannens, M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.7878926.v1, https://springernature.figshare.com/articles/Additional_file_9_of_Genome-wide_methylation_profiling_of_Beckwith-Wiedemann_syndrome_patients_without_molecular_confirmation_after_routine_diagnostics/7878926/1
Dataset
Additional file 4: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. (Contributor), Alders, M. (Contributor), Maas, S. (Contributor), Bliek, J. (Contributor), Venema, A. (Contributor), Henneman, P. (Contributor), Rezwan, F. I. (Contributor), Lip, K. V. D. (Contributor), Mul, A. N. (Contributor), Mackay, D. J. G. (Contributor) & Mannens, M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.7878896.v1, https://springernature.figshare.com/articles/Additional_file_4_of_Genome-wide_methylation_profiling_of_Beckwith-Wiedemann_syndrome_patients_without_molecular_confirmation_after_routine_diagnostics/7878896/1
Dataset

Mariëlle Alders

Collaborations and top research areas from the last five years

Dive into details

Mannens M.M.A.M.: Clinical Molecular Genetics with emphasis on cardiogenetics and growth malformations

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Code for down-sampling analysis and human-chimpanzee model

Additional file 2: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Additional file 7: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Additional file 9: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Additional file 4: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Mariëlle Alders

Collaborations and top research areas from the last five years

Projects

Research output

Datasets