Saskia Maas

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Research activity per year

89 Article
4 Comment/Letter to the editor
1 Chapter
1 Review article

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
Vos, N., Kleinendorst, L., van der Laan, L., van Uhm, J., Jansen, P. R., van Eeghen, A. M., Maas, S. M., Mannens, M. M. A. M. & van Haelst, M. M., 2024, (E-pub ahead of print) In: European journal of human genetics.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity
Kleinendorst, L., Abawi, O., Vos, N., van der Valk, E. S., Maas, S. M., Morgan, A. T., Hildebrand, M. S., da Silva, J. D., Florijn, R. J., Lauffer, P., Visser, J. A., van Rossum, E. F. C., van den Akker, E. L. T. & van Haelst, M. M., 2024, (E-pub ahead of print) In: Clinical obesity.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Pourova, R. K., Sedlacek, Z., Keena, B. A., March, M. E., Hou, C., & 133 othersO’Connor, N., Bhoj, E. J., Harr, M. H., Lemire, G., Boycott, K. M., Towne, M., Li, M., Tarnopolsky, M., Brady, L., Parker, M. J., Faghfoury, H., Parsley, L. K., Agolini, E., Dentici, M. L., Novelli, A., Wright, M., Palmquist, R., Lai, K., Scala, M., Striano, P., Iacomino, M., Zara, F., Cooper, A., Maarup, T. J., Byler, M., Lebel, R. R., Balci, T. B., Louie, R., Lyons, M., Douglas, J., Nowak, C., Afenjar, A., Hoyer, J., Keren, B., Maas, S. M., Motazacker, M. M., Martinez-Agosto, J. A., Rabani, A. M., McCormick, E. M., Falk, M. J., Ruggiero, S. M., Helbig, I., Møller, R. S., Tessarollo, L., Ardori, F. T., Palko, M. E., Hsieh, T-C., Krawitz, P. M., Ganapathi, M., Gelb, B. D., Jobanputra, V., Wilson, A., Greally, J., Jacquemont, S. B., Jizi, K., Bruel, A-L., Quelin, C., Misra, V. K., Chick, E., Romano, C., Greco, D., Arena, A., Morleo, M., Nigro, V., Seyama, R., Uchiyama, Y., Matsumoto, N., Taira, R., Tashiro, K., Sakai, Y., Yigit, G. K., Wollnik, B., Wagner, M., Kutsche, B., Hurst, A. C. E., Thompson, M. L., Schmidt, R., Randolph, L., Spillmann, R. C., Shashi, V., Higginbotham, E. J., Cordeiro, D., Carnevale, A., Costain, G., Khan, T., Funalot, B., Mau-Them, F. T., Garcia Moya, L. F., García-Miñaúr, S., Osmond, M., Chad, L., Quercia, N., Carrasco, D., Li, C., Sanchez-Valle, A., Kelley, M., Nizon, M., Jensson, B. O., Sulem, P., Stefansson, K., Gorokhova, S., Busa, T., Rio, M., Habdallah, H. H., Lesieur-Sebellin, M., Amiel, J., Pingault, V. R., Mercier, S., Vincent, M., Philippe, C., Fatus-Fauconnier, C., Friend, K., Halligan, R. K., Biswas, S., Rosser, J., Shoubridge, C., Corbett, M., Barnett, C., Gecz, J., Leppig, K., Slavotinek, A., Marcelis, C., Pfundt, R., de Vries, B. B. A., van Slegtenhorst, M. A., Brooks, A. S., Cogne, B., Rambaud, T., Tümer, Z., Zackai, E. H., Akizu, N., Song, Y. & Hakonarson, H., 20 Jan 2024, In: Journal of clinical investigation. 134, 1, e171235.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

4 Citations (Scopus)
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Ben-Mahmoud, A., Kishikawa, S., Gupta, V., Leach, N. T., Shen, Y., Moldovan, O., Goel, H., Hopper, B., Ranguin, K., Gruchy, N., Maas, S. M., Lacassie, Y., Kim, S-H., Kim, W-Y., Quade, B. J., Morton, C. C., Kim, C-H., Layman, L. C. & Kim, H-G., Dec 2023, In: Scientific reports. 13, 1, p. 12984 12984.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

1 Citation (Scopus)
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands
Wurfbain, L. F., Cox, I. L., van Dooren, M. F., Lachmeijer, A. M. A., Verhoeven, V. J. M., van Hagen, J. M., Heijligers, M., Klein Wassink - Ruiter, J. S., Koene, S., Maas, S. M., Veenstra - Knol, H. E., Ploos van Amstel, J. K., Massink, M. P. G., Mink van der Molen, A. B. & van den Boogaard, M-J. H., 1 Aug 2023, In: Molecular syndromology. 14, 4, p. 270-282 13 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

2 Citations (Scopus)

Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy
Vlaskamp, D. R. M. (Creator), Shaw, B. J. (Creator), Burgess, R. (Creator), Mei, D. (Creator), Montomoli, M. (Creator), Xie, H. (Creator), Myers, C. T. (Creator), Bennett, M. F. (Creator), Xiangwei, W. (Contributor), Williams, D. (Creator), Maas, S. (Creator), Brooks, A. S. (Creator), Mancini, G. M. S. (Creator), Van De Laar, I. M. B. H. (Creator), Van Hagen, J. M. (Creator), Ware, T. L. (Creator), Webster, R. I. (Creator), Malone, S. (Creator), Berkovic, S. F. (Creator), Kalnins, R. M. (Creator), Sicca, F. (Creator), Korenke, G. C. (Creator), Van Ravenswaaij-Arts, C. M. A. (Creator), Hildebrand, M. S. (Creator), Mefford, H. C. (Creator), Jiang, Y. (Creator), Guerrini, R. (Creator), Scheffer, I. E. (Creator), Mancini, G. M. S. (Creator), Webster, R. I. (Creator) & Guerrini, R. (Creator), Dryad Digital Repository, 2019
DOI: 10.5061/dryad.ck70sj0, https://datadryad.org/resource/doi:10.5061/dryad.ck70sj0
Dataset
Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy
Vlaskamp, D. R. M. (Creator), Shaw, B. J. (Creator), Burgess, R. (Creator), Mei, D. (Creator), Montomoli, M. (Creator), Xie, H. (Creator), Myers, C. T. (Creator), Bennett, M. F. (Creator), Xiangwei, W. (Contributor), Williams, D. (Creator), Maas, S. (Creator), Brooks, A. S. (Creator), Mancini, G. M. S. (Creator), Van De Laar, I. M. B. H. (Creator), Van Hagen, J. M. (Creator), Ware, T. L. (Creator), Webster, R. I. (Creator), Malone, S. (Creator), Berkovic, S. F. (Creator), Kalnins, R. M. (Creator), Sicca, F. (Creator), Korenke, G. C. (Creator), Van Ravenswaaij-Arts, C. M. A. (Creator), Hildebrand, M. S. (Creator), Mefford, H. C. (Creator), Jiang, Y. (Creator), Guerrini, R. (Creator), Scheffer, I. E. (Creator), Mancini, G. M. S. (Creator), Webster, R. I. (Creator) & Guerrini, R. (Creator), Dryad Digital Repository, 2018
DOI: 10.5061/dryad.ck70sj0.1, https://datadryad.org/resource/doi:10.5061/dryad.ck70sj0.1
Dataset
Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy
Vlaskamp, D. R. M. (Contributor), Shaw, B. J. (Contributor), Burgess, R. (Contributor), Mei, D. (Contributor), Montomoli, M. (Contributor), Xie, H. (Contributor), Myers, C. T. (Contributor), Bennett, M. F. (Contributor), Xiangwei, W. (Contributor), Williams, D. (Contributor), Maas, S. (Contributor), Brooks, A. S. (Contributor), Mancini, G. M. S. (Contributor), Van De Laar, I. M. B. H. (Contributor), Van Hagen, J. M. (Contributor), Ware, T. L. (Contributor), Webster, R. I. (Contributor), Malone, S. (Contributor), Berkovic, S. F. (Contributor), Kalnins, R. M. (Contributor), Sicca, F. (Contributor), Korenke, G. C. (Contributor), Van Ravenswaaij-Arts, C. M. A. (Contributor), Hildebrand, M. S. (Contributor), Mefford, H. C. (Contributor), Jiang, Y. (Contributor), Guerrini, R. (Contributor), Scheffer, I. E. (Contributor), Mancini, G. M. S. (Contributor), Webster, R. I. (Contributor) & Guerrini, R. (Contributor), ZENODO, 4 Sept 2019
DOI: 10.5061/dryad.ck70sj0, https://zenodo.org/record/5008573
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

Saskia Maas

Collaborations and top research areas from the last five years

Dive into details

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy

Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy

Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy

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

Saskia Maas

Collaborations and top research areas from the last five years

Research output

Datasets