Mariëlle Alders

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166 Article
12 Comment/Letter to the editor
7 Review article
2 Chapter
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- 1 Editorial
- 1 Erratum/Corrigendum

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
Houdayer, C., Rooney, K., van der Laan, L., Bris, C. L., Alders, M., Bahr, A., Barcia, G., Battault, C., Begemann, A., Bonneau, D., Bonnevalle, A., Boughalem, A., Bourges, A., Bournez, M., Bruel, A.-L., Buhas, D., Carallis, F., Cogné, B., Cormier-Daire, V. & Delanne, J. & 47 others, Demaret, T., Denommé-Pichon, A.-S., Désir, J., Dubourg, C., Fradin, M. L., Geneviève, D., Goel, H., Goldenberg, A., Gripp, K. W., Guichet, A., Guimier, A., Jacquinet, A., Keren, B., Legoff, L., Levy, M. A., McConkey, H., Mendelsohn, B. A., Mignot, C., Milon, V., Nizon, M., Oneda, B., Pasquier, L., Patat, O., Philippe, C., Procaccio, V., Procopio, R., Prouteau, C., Rambaud, T., Rauch, A., Relator, R., Rondeau, S., Santen, G. W. E., Schleit, J., Sorlin, A., Steindl, K., Tedder, M., Tessarech, M., Mau-Them, F. T., Trost, D., van der Sluijs, P. J., Vincent, M., Whalen, S., Thauvin-Robinet, C., Isidor, B., Sadikovic, B., Vitobello, A. & Colin, E., 2025, (E-pub ahead of print) In: European journal of human genetics. 100075.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
AUTS2-related syndrome: Insights from a large European cohort
Loberti, L., Adamo, L., Antolini, E., Casamassima, G., Destrèe, A., Brunetti-Pierri, N., Genevieve, D., Christophe, P., Coubes, C., van Esch, H., Herget, T., Kortüm, F., Lisfeld, J., Möllring, A. C., Zenker, M., Levy, J., Perrin, L., Tabet, A.-C., Maruani, A. & Sorlin, A. & 55 others, Stieber, D., Herissant, L., Dahan, K., Sinibaldi, L., Capolino, R., Dentici, M. L., Dallapiccola, B., Novelli, A., Garavelli, L., Caraffi, S. G., Piatelli, G., Valenzuela, I., Digilio, M. C., Caumes, R., Knopp, C., Chwiałkowska, K., Jezela-Stanek, A., Kwasniewski, M., Korotko, U., Gorzałczyńska, E., Canitano, R., Grosso, S., Rahikkala, E., Mattern, L., Elbracht, M., Zuffardi, O., Caputo, V., Toschi, B., Beunders, G., Leeuwen, L., Elting, M. W., van der Laan, L., Broekema, M. F., Groffen, A. J., van de Kamp, J. M., van Haelst, M. M., Alders, M., Mauro, S. P., de Razza, F., Varvara, D., Kick, J., Gaspar, H., Braun, D., Lausberg, E., Maier, A., Ruault, V., Genesio, R., Tartaglia, M., Tita, R., Bruttini, M., Longo, I., Baldassarri, M., Mencarelli, M. A., Renieri, A. & Pinto, A. M., 1 Jun 2025, In: Genetics in medicine. 27, 6, 101375.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy
Nicastro, M., Vermeer, A. M. C., Postema, P. G., Tadros, R., Bowling, F. Z., Aegisdottir, H. M., Tragante, V., Mach, L., Postma, A. V., Lodder, E. M., van Duijvenboden, K., Zwart, R., Beekman, L., Wu, L., Jurgens, S. J., van der Zwaag, P. A., Alders, M., Allouba, M., Aguib, Y. & Santome, J. L. & 51 others, de Una, D., Monserrat, L., Miranda, A. M. A., Kanemaru, K., Cranley, J., van Zeggeren, I. E., Aronica, E. M. A., Ripolone, M., Zanotti, S., Sveinbjornsson, G., Ivarsdottir, E. V., Hólm, H., Guðbjartsson, D. F., Skúladóttir, Á. T., Stefánsson, K. R., Nadauld, L., Knowlton, K. U., Ostrowski, S. R., Sørensen, E., Vesterager Pedersen, O. B., Ghouse, J., Rand, S. R. A., Bundgaard, H., Ullum, H., Erikstrup, C., Aagaard, B., Bruun, M. T., Christiansen, M., Jensen, H. K., Carere, D. A., Cummings, C. T., Fishler, K., tørring, P. M., Brusgaard, K., Juul, T. M., Saaby, L., Winkel, B. G., Mogensen, J., Fortunato, F., Comi, G. P., Ronchi, D., van Tintelen, J. P., Noseda, M., Airola, M. V., Christiaans, I., Wilde, A. A. M., Wilders, R., Clur, S.-A., Verkerk, A. O., Bezzina, C. R. & Lahrouchi, N., 3 Jul 2025, In: American journal of human genetics. 112, 7, p. 1681-1698 18 p.
Research output: Contribution to journal › Article › Academic › peer-review
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
van der Laan, L., Silva, A., Kleinendorst, L., Rooney, K., Haghshenas, S., Lauffer, P., Alanay, Y., Bhai, P., Brusco, A., de Munnik, S., de Vries, B. B. A., Vega, A. D., Engelen, M., Herkert, J. C., Hochstenbach, R., Hopman, S., Kant, S. G., Kira, R., Kato, M. & Keren, B. & 24 others, Kroes, H. Y., Levy, M. A., Lock-Hock, N., Maas, S. M., Mancini, G. M. S., Marcelis, C., Matsumoto, N., Mizuguchi, T., Mussa, A., Mignot, C., Närhi, A., Nordgren, A., Pfundt, R., Polstra, A. M., Trajkova, S., van Bever, Y., José van den Boogaard, M., van der Smagt, J. J., Barakat, T. S., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 9 Jan 2025, In: Human Genetics and Genomics Advances. 6, 1, 100380.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
van der Sluijs, P. J., Moutton, S. B., Dingemans, A. J. M., Weis, D., Levy, M. A., Boycott, K. M., Arberas, C., Baldassarri, M., Beneteau, C., Brusco, A., Coutton, C., Dabir, T., Dentici, M. L., Devriendt, K., Faivre, L., van Haelst, M. M., Jizi, K., Kempers, M. J., Kerkhof, J. & Kharbanda, M. & 27 others, Lachlan, K., Marle, N., McConkey, H., Mencarelli, M. A., Mowat, D., Niceta, M., Nicolas, C., Novelli, A., Orlando, V., Pichon, O., Rankin, J., Relator, R., Ropers, F. G., Rosenfeld, J. A., Sachdev, R., Sandaradura, S. A., Shukarova-Angelovska, E., Steenbeek, D., Tartaglia, M., Tedder, M. A., Trajkova, S., Winer, N., Woods, J., de Vries, B. B. A., Sadikovic, B., Alders, M. & Santen, G. W. E., 1 Jan 2025, In: Genetics in medicine. 27, 1, 101283.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
2 Downloads (Pure)

MOESM5 of A genome-wide DNA methylation signature for SETD1B-related syndrome
Krzyzewska, I. M. (Contributor), Maas, S. M. (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.-G. (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. M. A. M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.10252100, https://springernature.figshare.com/articles/MOESM5_of_A_genome-wide_DNA_methylation_signature_for_SETD1B-related_syndrome/10252100
Dataset
Additional file 3: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. M. (Contributor), Alders, M. (Contributor), Maas, S. M. (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. M. A. M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.7878887, https://springernature.figshare.com/articles/Additional_file_3_of_Genome-wide_methylation_profiling_of_Beckwith-Wiedemann_syndrome_patients_without_molecular_confirmation_after_routine_diagnostics/7878887
Dataset
Prenatal NeuN+ neurons of Down Syndrome display aberrant integrative DNA methylation and gene expression profiles. Supplementary data
Henneman, P. (Creator), Mul, A. N. (Creator), Li Yim, A. Y. (Creator), Krzyzewska, I. M. (Creator), Alders, M. (Creator), Adelia, A. (Creator), Mizee, M. R. (Creator) & Mannens, M. M. (Creator), Taylor & Francis, 2022
DOI: 10.25402/epi.19290170, https://tandf.figshare.com/articles/dataset/Prenatal_NeuN_neurons_of_Down_Syndrome_display_aberrant_integrative_DNA_methylation_and_gene_expression_profiles_Supplementary_data/19290170
Dataset
Prenatal NeuN+ neurons of Down Syndrome display aberrant integrative DNA methylation and gene expression profiles. Supplementary data
Henneman, P. (Creator), Mul, A. N. (Creator), Li Yim, A. Y. (Creator), Krzyzewska, I. M. (Creator), Alders, M. (Creator), Adelia, A. (Creator), Mizee, M. R. (Creator) & Mannens, M. M. (Creator), Taylor & Francis, 2022
DOI: 10.25402/epi.19290170.v1, https://tandf.figshare.com/articles/dataset/Prenatal_NeuN_neurons_of_Down_Syndrome_display_aberrant_integrative_DNA_methylation_and_gene_expression_profiles_Supplementary_data/19290170/1
Dataset
Additional file 9: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. M. (Contributor), Alders, M. (Contributor), Maas, S. M. (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. M. A. 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

Mariëlle Alders

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Collaborations and top research areas from the last five years

Dive into details

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

AUTS2-related syndrome: Insights from a large European cohort

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

MOESM5 of A genome-wide DNA methylation signature for SETD1B-related syndrome

Additional file 3: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Prenatal NeuN+ neurons of Down Syndrome display aberrant integrative DNA methylation and gene expression profiles. Supplementary data

Prenatal NeuN+ neurons of Down Syndrome display aberrant integrative DNA methylation and gene expression profiles. Supplementary data

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

Mariëlle Alders

Fingerprint

Collaborations and top research areas from the last five years

Research output

Datasets