Research output per year
Research output per year
Personal profile
Research interests
genome diagnostics i.p. epigenetics of disease
PubMed database Mannens M M A M, Mannens H M A M, Mannens M, Mannens M A, Mannens M A M, Mannens M M, Mannens M A M M, Mannens M M A
Specialisation
Genome diagnostics i.p. epigenetics of disease
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Alders, M., Hogan, B. M., Gjini, E., Salehi, F., Al-Gazali, L., Hennekam, E. A., Holmberg, E. E., Mannens, M. M. A. M., Mulder, M. F., Offerhaus, G. J. A., Prescott, T. E., Schroor, E. J., Verheij, J. B. G. M., Witte, M., Zwijnenburg, P. J., Vikkula, M., Schulte-Merker, S. & Hennekam, R. C., 2009, In: Nature Genetics. 41, 12, p. 1272-1274 3 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Mutations in ZBTB20 cause Primrose syndrome
Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., Carvalho, D. R., Espay, A. J., Male, A., Molin, A-M., Posmyk, R., Battisti, C., Casertano, A., Melis, D. & 7 others, , 2014, In: Nature Genetics. 46, 8, p. 815-817Research output: Contribution to journal › Article* › Academic › peer-review
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Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience
Hofman, N., Tan, H. L., Alders, M., Kolder, I., de Haij, S., Mannens, M. M. A. M., Lombardi, M. P., Lekanne Deprez, R. H., van Langen, I. & Wilde, A. A. M., 2013, In: Circulation. 128, 14, p. 1513-1521Research output: Contribution to journal › Article* › Academic › peer-review
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Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features
Bhuiyan, Z. A., van den Berg, M. P., van Tintelen, J. P., Bink-Boelkens, M. T. E., Wiesfeld, A. C. P., Alders, M., Postma, A. V., van Langen, I., Mannens, M. M. A. M. & Wilde, A. A. M., 2007, In: Circulation. 116, 14, p. 1569-1576Research output: Contribution to journal › Article* › Academic › peer-review
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Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype
Bliek, J., Terhal, P., van den Bogaard, M-J., Maas, S., Hamel, B., Salieb-Beugelaar, G., Simon, M., Letteboer, T., van der Smagt, J., Kroes, H. & Mannens, M., 2006, In: American journal of human genetics. 78, 4, p. 604-614Research output: Contribution to journal › Article* › Academic › peer-review