De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R. D., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J-M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., 1 Sep 2019, In: Genetics in Medicine. 21, 9, p. 2059-2069

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

Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome

Pediatric Heart Network Investigators, 1 Jan 2019, In: Journal of Pediatrics. 204, p. 250-255.e1

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

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Bosch, A. M., Kamsteeg, E-J., Rodenburg, R. J., van Deutekom, A. W., Buis, D. R., Engelen, M. & Cobben, J-M., 2018, In: Molecular Genetics and Metabolism Reports. 17, p. 19-21

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

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

Palmer, E. E., Stuhlmann, T., Weinert, S., Haan, E., van Esch, H., Holvoet, M., Boyle, J., Leffler, M., Raynaud, M., Moraine, C., van Bokhoven, H., Kleefstra, T., Kahrizi, K., Najmabadi, H., Ropers, H-H., Delgado, M. R., Sirsi, D., Golla, S., Sommer, A., Pietryga, M. P. & 29 others, Chung, W. K., Wynn, J., Rohena, L., Bernardo, E., Hamlin, D., Faux, B. M., Grange, D. K., Manwaring, L., Tolmie, J., Joss, S., Cobben, J. M., Duijkers, F. A. M., Goehringer, J. M., Challman, T. D., Hennig, F., Fischer, U., Grimme, A., Suckow, V., Musante, L., Nicholl, J., Shaw, M., Lodh, S. P., Niu, Z., Rosenfeld, J. A., Stankiewicz, P., Jentsch, T. J., Gecz, J., Field, M. & Kalscheuer, V. M., 2018, In: Molecular psychiatry. 23, 2, p. 222-230

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

Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome

Pediatric Heart Network Investigators, 2018, In: Pediatric Cardiology. 39, 7, p. 1453-1461

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