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Research Output 2017 2019

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Fountain, M. D., Oleson, D. S., Rech, M. E., Segebrecht, L., Hunter, J. V., McCarthy, J. M., Lupo, P. J., Holtgrewe, M., Moran, R., Rosenfeld, J. A., Isidor, B., le Caignec, C. D., Saenz, M. S., Pedersen, R. C., Morgan, T. M., Pfotenhauer, J. P., Xia, F., Bi, W., Kang, S-H. L., Patel, A. & 36 othersKrantz, I. D., Raible, S. E., Smith, W., Cristian, I., Torti, E., Juusola, J., Millan, F., Wentzensen, I. M., Person, R. E., Küry, S. B., Bézieau, S., Uguen, K. V., Férec, C., Munnich, A., van Haelst, M., Lichtenbelt, K. D., van Gassen, K., Hagelstrom, T., Chawla, A., Perry, D. L., Taft, R. J., Jones, M., Masser-Frye, D., Dyment, D., Venkateswaran, S., Li, C., Escobar, L. F., Horn, D., Spillmann, R. C., Peña, L., Wierzba, J., Strom, T. M., Parenti, I., Kaiser, F. J., Ehmke, N. & Schaaf, C. P., 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticleAcademicpeer-review

Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway

van de Maele, K., Smulders, C., Ecury-Goossen, G., Rosina-Angelista, I., Redeker, E. & van Haelst, M., 2019, In : Clinical Dysmorphology. 28, 2, p. 57-62

Research output: Contribution to journalArticleAcademicpeer-review

Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element

Bouman, A., van Haelst, M. & van Spaendonk, R., 2018, In : Clinical Dysmorphology. 27, 2, p. 58-62

Research output: Contribution to journalArticleAcademicpeer-review

Cantú syndrome, the changing phenotype: A report of the two oldest Dutch patients

Roessler, H. I., Volker-Touw, C. M. L., Terhal, P. A., van Haaften, G. & van Haelst, M. M., 2018, In : Clinical Dysmorphology. 27, 3, p. 78-83

Research output: Contribution to journalArticleAcademicpeer-review

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

Stokman, M. F., van der Zwaag, B., van de Kar, N. C. A. J., van Haelst, M. M., van Eerde, A. M., van der Heijden, J. W., Kroes, H. Y., Ippel, E., Schulp, A. J. A., van Gassen, K. L., van Rooij, I. A. L. M., Giles, R. H., Beales, P. L., Roepman, R., Arts, H. H., Bongers, E. M. H. F., Renkema, K. Y., Knoers, N. V. A. M., van Reeuwijk, J. & Lilien, M. R., 2018, In : Pediatric Nephrology. 33, 10, p. 1701-1712

Research output: Contribution to journalArticleAcademicpeer-review

Open Access