Mariëlle Alders

DR.

ACS - Pulmonary Hypertension and Critical Care Affiliatie UvA Amsterdam Reproduction & Development (AR&D) Other Academic Staff, Human Genetics

Specialization

Focus of research

Latest publications

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
Rumping, L., Wessels, M. W., Postma, A. V., van Schuppen, J., van Slegtenhorst, M. A., Saris, J. J., van Tintelen, J. P., Robertson, S. P., Alders, M., Maas, S. M. & Deprez, R. H. L., Dec 2021, In: American journal of medical genetics. Part A. 185, 12, p. 3814-3820 7 p.
Research output: Contribution to journal › Article* › Academic › peer-review
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Genetics in Medicine, (2021), 23, 6, (1065-1074), 10.1038/s41436-020-01096-4)
Sadikovic, B., Levy, M. A., Kerkhof, J., Aref-Eshghi, E., Schenkel, L., Stuart, A., McConkey, H., Henneman, P., Venema, A., Schwartz, C. E., Stevenson, R. E., Skinner, S. A., DuPont, B. R., Fletcher, R. S., Balci, T. B., Siu, V. M., Granadillo, J. L., Masters, J., Kadour, M. & Friez, M. J. & 6 others, van Haelst, M. M., Mannens, M. M. A. M., Louie, R. J., Lee, J. A., Tedder, M. L. & Alders, M., Nov 2021, In: Genetics in medicine. 23, 11, p. 2228 1 p.
Research output: Contribution to journal › Comment/Letter to the editor* › Academic
Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))
Aref-Eshghi, E., Kerkhof, J., Pedro, V. P., France, G. D. I., Barat-Houari, M., Ruiz-Pallares, N., Andrau, J.-C., Lacombe, D., van-Gils, J., Fergelot, P., Dubourg, C., Cormier-Daire, V., Rondeau, S., Lecoquierre, F., Saugier-Veber, P., Nicolas, G., Lesca, G., Chatron, N., Sanlaville, D. & Vitobello, A. & 49 others, Faivre, L., Thauvin-Robinet, C., Laumonnier, F., Raynaud, M., Alders, M., Mannens, M., Henneman, P., Hennekam, R. C., Velasco, G., Francastel, C., Ulveling, D., Ciolfi, A., Pizzi, S., Tartaglia, M., Heide, S., Héron, D., Mignot, C., Keren, B., Whalen, S., Afenjar, A., Bienvenu, T., Campeau, P. M., Rousseau, J., Levy, M. A., Brick, L., Kozenko, M., Balci, T. B., Siu, V. M., Stuart, A., Kadour, M., Masters, J., Takano, K., Kleefstra, T., de Leeuw, N., Field, M., Shaw, M., Gecz, J., Ainsworth, P. J., Lin, H., Rodenhiser, D. I., Friez, M. J., Tedder, M., Lee, J. A., DuPont, B. R., Stevenson, R. E., Skinner, S. A., Schwartz, C. E., Genevieve, D. & Sadikovic, B., 3 Jun 2021, In: American journal of human genetics. 108, 6, p. 1161-1163 3 p.
Research output: Contribution to journal › Comment/Letter to the editor* › Academic
All publications

Mariëlle Alders

Specialization

Focus of research

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Genetics in Medicine, (2021), 23, 6, (1065-1074), 10.1038/s41436-020-01096-4)

Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))

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