Jan Cobben

DR.

1990 …2019
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Research Output 1990 2019

  • 11 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 othersHeron, 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 journalArticleAcademicpeer-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 journalReview articleAcademicpeer-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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-review