Saskia Maas

DRS.

Medical Specialist, ANS - Cellular & Molecular Mechanisms Medical Specialist, ANS - Complex Trait Genetics Affiliatie UvA Medical Specialist, Human genetics

Specialization

Focus of research

Latest publications

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Mackay, D. J. G., Gazdagh, G., Monk, D., Brioude, F., Giabicani, E., Krzyzewska, I. M., Kalish, J. M., Maas, S. M., Kagami, M., Beygo, J., Kahre, T., Tenorio-Castano, J., Ambrozaitytė, L., Burnytė, B., Cerrato, F., Davies, J. H., Ferrero, G. B., Fjodorova, O., Manero-Azua, A., Pereda, A., & 12 othersRusso, S., Tannorella, P., Temple, K. I., Õunap, K., Riccio, A., de Nanclares, G. P., Maher, E. R., Lapunzina, P., Netchine, I., Eggermann, T., Bliek, J. & Tümer, Z., 1 Dec 2024, In: Clinical epigenetics. 16, 1, 99.
Research output: Contribution to journal › Review article › Academic › peer-review
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., Aug 2024, In: Clinical obesity. 14, 4, e12661.
Research output: Contribution to journal › Article › Academic › peer-review
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
Dougherty, G. W., Ostrowski, L. E., Nothe-Menchen, T., Raidt, J., Schramm, A., Olbrich, H., Yin, W., Sears, P. R., Dang, H., Smith, A. J., Beule, A. G., Hjeij, R., Rutjes, N., Haarman, E. G., Maas, S. M., Ferkol, T. W., Noone, P. G., Olivier, K. N., Bracht, D. C., Barbry, P., & 21 othersZaragosi, L-E., Fierville, M., Kliesch, S., Wohlgemuth, K., Konig, J., George, S., Loges, N. T., Ceppe, A., Markovetz, M. R., Luo, H., Guo, T., Rizk, H., Eldesoky, T., Dahlke, K., Boldt, K., Ueffing, M., Hill, D. B., Pang, Y-P., Knowles, M. R., Zariwala, M. A. & Omran, H., 1 Jul 2024, In: American journal of respiratory and critical care medicine. 210, 1, p. 63-76 14 p.
Research output: Contribution to journal › Article › Academic › peer-review
All publications

Saskia Maas

Specialization

Focus of research

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

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

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis

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