Jan Cobben

DR.

Medical Specialist, Pediatrics

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15 Article
1 Comment/Letter to the editor
1 Letter
1 Review article

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

Open Access
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

Open Access
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
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
van der Tuin, K., Tops, C. M. J., Adank, M. A., Cobben, J. M., Hamdy, N. A. T., Jongmans, M. C., Menko, F. H., van Nesselrooij, B. P. M., Netea-Maier, R. T., Oosterwijk, J. C., Valk, G. D., Wolffenbuttel, B. H. R., Hes, F. J. & Morreau, H., 1 Dec 2017, In : The Journal of clinical endocrinology and metabolism. 102, 12, p. 4534-4540 7 p.
Research output: Contribution to journal › Article › Academic › peer-review

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

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

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

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

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism