20132019

Research output per year

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Research Output

243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22-24 March 2019

Poulton, J., Steffann, J., Burgstaller, J., McFarland, R., Arbeithuber, B., Bengoa, J., Burgstaller, J., Chan, S., Chiaratti, M., Crouch, M., Dimond, R., Enriques, J. A., Gorman, G., Hyslop, L., Johnston, I., Kitto, J., Maguire, A., McFarland, R., Mitalipov, S., Otterloo, V. & 12 others, Poulton, J., Sallevelt, S., Smeets, H., Spits, C., St John, J., Steffann, J., Stewart, J., Stoneking, M., Thorburn, D., van der Veer, E., Wells, D. & Workshop Participants, Sep 2019, In : Neuromuscular Disorders. 29, 9, p. 725-733 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Westra, D., Schouten, M. I., Stunnenberg, B. C., Kusters, B., Saris, C. G. J., Erasmus, C. E., van Engelen, B. G., Bulk, S., Verschuuren-Bemelmans, C. C., Gerkes, E. H., de Geus, C., van der Zwaag, P. A., Chan, S., Chung, B., Barge-Schaapveld, D. Q. C. M., Kriek, M., Sznajer, Y., van Spaendonck-Zwarts, K., van der Kooi, A. J., Krause, A. & 13 others, Schönewolf-Greulich, B., de Die-Smulders, C., Sallevelt, S. C. E. H., Krapels, I. P. C., Rasmussen, M., Maystadt, I., Kievit, A. J. A., Witting, N., Pennings, M., Meijer, R., Gillissen, C., Kamsteeg, E-J. & Voermans, N. C., 2019, In : Journal of neuromuscular diseases. 6, 2, p. 241-258 18 p.

Research output: Contribution to journalArticleAcademicpeer-review

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)

van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Woedl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K. & 85 others, De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., Mckee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Calvo, A. S., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Sonmez, F. M., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., Sep 2019, In : Genetics in Medicine. 21, 9, p. 2160-2161 2 p.

Research output: Contribution to journalErratum / corrigendumAcademic

Open Access

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Woedl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K. & 85 others, De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., McKee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Sanchis Calvo, A., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Sonmez, F. M., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., Jun 2019, In : Genetics in Medicine. 21, 6, p. 1295-1307 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study

Haast, R. A. M., Ivanov, D., IJsselstein, R. J. T., Sallevelt, S. C. E. H., Jansen, J. F. A., Smeets, H. J. M., de Coo, I. F. M., Formisano, E. & Uludağ, K., 2018, In : NeuroImage: Clinical. 18, p. 231-244 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access