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

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., Jangam, S., Liu, C., Ni, H., Willemsen, M. H., van Bon, B. W., Rinne, T., Stevens, S. J. C., Kleefstra, T., Brunner, H. G., Yntema, H. G. & 49 others, Long, M., Zhao, W., Hu, Z., Colson, C., Richard, N., Schwartz, C. E., Romano, C., Castiglia, L., Bottitta, M., Dhar, S. U., Erwin, D. J., Emrick, L., Keren, B., Afenjar, A., Zhu, B., Bai, B., Stankiewicz, P., Herman, K., Nickerson, D. A., Bamshad, M. J., Mercimek-Andrews, S., Juusola, J., Wilfert, A. B., Abou Jamra, R., Büttner, B., Mefford, H. C., Muir, A. M., Scheffer, I. E., Regan, B. M., Malone, S., Gecz, J., Cobben, J., Weiss, M. M., Waisfisz, Q., Bijlsma, E. K., Hoffer, M. J. V., Ruivenkamp, C. A. L., Sartori, S., Xia, F., Rosenfeld, J. A., Bernier, R. A., Wangler, M. F., Yamamoto, S., Xia, K., Stegmann, A. P. A., Bellen, H. J., Murgia, A., Eichler, E. E. & University of Washington Center for Mendelian Genomics, 1 Dec 2019, In: Nature Communications. 10, 1, 4679.

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

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes

Cobben, J. M., Krzyzewska, I. M., Venema, A., Mul, A. N., Polstra, A., Postma, A. V., Smigiel, R., Pesz, K., Niklinski, J., Chomczyk, M. A., Henneman, P. & Mannens, M. M. A. M., 1 Jan 2019, In: Epigenomics. 11, 7, p. 767-785

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

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype

Nixon, T. R. W., Alexander, P., Richards, A., McNinch, A., Bearcroft, P. W. P., Cobben, J. & Snead, M. P., 1 Aug 2019, In: American Journal of Medical Genetics, Part A. 179, 8, p. 1498-1506

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

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis

van Dijk, F. S., Mancini, G. M. S., Maugeri, A. & Cobben, J. M., 1 Oct 2017, In: European Journal of Medical Genetics. 60, 10, p. 536-540 5 p.

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