Amsterdam Cardiovascular Sciences

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., 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

Mutations in ZBTB20 cause Primrose syndrome

Cordeddu, V., Redeker, B., Stellacci, E., 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. & van Kampen, A. & 6 others, Baas, F., Mannens, M. M., Bocchinfuso, G., Stella, L., Tartaglia, M. & Hennekam, R. C., 2014, In: Nature Genetics. 46, 8, p. 815-817

Research output: Contribution to journal › Article › Academic › peer-review

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., Lekanne Deprez, R. H., van Langen, I. & Wilde, A. A. M., 2013, In: Circulation. 128, 14, p. 1513-1521

Research output: Contribution to journal › Article › Academic › peer-review

Distinct saliva DNA methylation profiles in relation to treatment outcome in youth with posttraumatic stress disorder

Ensink, J. B. M., Henneman, P., Venema, A., Zantvoord, J. B., den Kelder, R. O., Mannens, M. M. A. M. & Lindauer, R. J. L., 1 Dec 2024, In: Translational Psychiatry. 14, 1, 309.

Research output: Contribution to journal › Article › Academic › peer-review

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

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., Nov 2024, In: European journal of human genetics. 32, 11, p. 1387-1401 15 p.

Research output: Contribution to journal › Article › Academic › peer-review

The utility of obesity polygenic risk scores from research to clinical practice: A review

Jansen, P. R., van Uhm, J., Dekkers, I. A., van der Meer, R., Mannens, M. M. A. M. & van Haelst, M. M., Nov 2024, In: Obesity Reviews. 25, 11, p. 1-14 14 p., e13810.

Research output: Contribution to journal › Review article › Academic › peer-review