20132019

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2019

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

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
2018

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

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Kamps, R., Szklarczyk, R., Theunissen, T. E., Hellebrekers, D. M. E. I., Sallevelt, S. C. E. H., Boesten, I. B., de Koning, B., van den Bosch, B. J., Salomons, G. S., Simas-Mendes, M., Verdijk, R., Schoonderwoerd, K., de Coo, I. F. M., Vanoevelen, J. M. & Smeets, H. J. M., 1 Apr 2018, In : European Journal of Human Genetics. 26, 4, p. 537-551 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

Mutation-specific effects in germline transmission of pathogenic mtDNA variants

Otten, A. B. C., Sallevelt, S. C. E. H., Carling, P. J., Dreesen, J. C. F. M., Drusedau, M., Spierts, S., Paulussen, A. D. C., de Die-Smulders, C. E. M., Herbert, M., Chinnery, P. F., Samuels, D. C., Lindsey, P. & Smeets, H. J. M., 1 Jul 2018, In : Human Reproduction. 33, 7, p. 1331-1341 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Theunissen, T. E. J., Nguyen, M., Kamps, R., Hendrickx, A. T., Sallevelt, S. C. E. H., Gottschalk, R. W. H., Calis, C. M., Stassen, A. P. M., de Koning, B., Mulder-Den Hartog, E. N. M., Schoonderwoerd, K., Fuchs, S. A., Hilhorst-Hofstee, Y., de Visser, M., Vanoevelen, J., Szklarczyk, R., Gerards, M., de Coo, I. F. M., Hellebrekers, D. M. E. & Smeets, H. J. M., 12 Oct 2018, In : Frontiers in Genetics. 9, 17 p., 400.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2017
Open Access

De novo mtDNA point mutations are common and have a low recurrence risk

Sallevelt, S. C. E. H., de Die-Smulders, C. E. M., Hendrickx, A. T. M., Hellebrekers, D. M. E. I., de Coo, I. F. M., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R. & Smeets, H. J. M., Feb 2017, In : Journal of Medical Genetics. 54, 2, p. 114-124 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Haer-Wigman, L., van Zelst-Stams, W. A. G., Pfundt, R., van den Born, L. I., Klaver, C. C. W., Verheij, J. B. G. M., Hoyng, C. B., Breuning, M. H., Boon, C. J. F., Kievit, A. J., Verhoeven, V. J. M., Pott, J. W. R., Sallevelt, S. C. E. H., van Hagen, J. M., Plomp, A. S., Kroes, H. Y., Lelieveld, S. H., Hehir-Kwa, J. Y., Castelein, S., Nelen, M. & 5 others, Scheffer, H., Lugtenberg, D., Cremers, F. P. M., Hoefsloot, L. & Yntema, H. G., May 2017, In : European Journal of Human Genetics. 25, 5, p. 591-599 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Hellebrekers, D. M., Sallevelt, S. C. E. H., Theunissen, T. E. J., Hendrickx, A. T. M., Gottschalk, R. W., Hoeijmakers, J. G. J., Habets, D. D., Bierau, J., Schoonderwoerd, K. G. & Smeets, H. J. M., Jun 2017, In : European Journal of Human Genetics. 25, 7, p. 886-888 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy

Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Druesedau, M., Hellebrekers, D. M. E. I., Paulussen, A. D. C., Coonen, E., Van Golde, R. J. T., Geraedts, J. P. M., Gianaroli, L., Magli, M. C., Zeviani, M., Smeets, H. J. M. & de Die-Smulders, C. E. M., Mar 2017, In : Human Reproduction. 32, 3, p. 698-703 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

Theunissen, T. E. J., Sallevelt, S. C. E. H., Hellebrekers, D. M. E. I., de Koning, B., Hendrickx, A. T. M., van den Bosch, B. J. C., Kamps, R., Schoonderwoerd, K., Szklarczyk, R., Hartog, E. N. M. M-D., de Coo, I. F. M. & Smeets, H. J. M., Mar 2017, In : The Journal of Pediatrics. 182, p. 371-374 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

Theunissen, T. E. J., Gerards, M., Hellebrekers, D. M. E. I., van Tienen, F. H., Kamps, R., Sallevelt, S. C. E. H., Hartog, E. N. M. M. -D., Scholte, H. R., Verdijk, R. M., Schoonderwoerd, K., de Coo, I. F. M., Szklarczyk, R. & Smeets, H. J. M., 18 Oct 2017, In : Frontiers in molecular neuroscience. 10, 12 p., 336.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2016

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options

Gerards, M., Sallevelt, S. C. E. H. & Smeets, B., Mar 2016, In : Molecular Genetics and Metabolism. 117, 3, p. 300-312 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Wilson, I. J., Carling, P. J., Alston, C. L., Floros, V. I., Pyle, A., Hudson, G., Sallevelt, S. C. E. H., Lamperti, C., Carelli, V., Bindoff, L. A., Samuels, D. C., Wonnapinij, P., Zeviani, M., Taylor, R. W., Smeets, H. J. M., Horvath, R. & Chinnery, P. F., 1 Mar 2016, In : Human Molecular Genetics. 25, 5, p. 1031-1041

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
4 Citations (Scopus)
2015

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis

Smeets, H. J. M., Sallevelt, S. C. E. H., Dreesen, J. C. F. M., de Die-Smulders, C. E. M. & de Coo, I. F. M., 2015, In : Annals of the New York Academy of Sciences. 1350, p. 29-36

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Scopus)

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Meuwissen, M. E. C., Halley, D. J. J., Smit, L. S., Lequin, M. H., Cobben, J. M., de Coo, R., van Harssel, J., Sallevelt, S., Woldringh, G., van der Knaap, M. S., de Vries, L. S. & Mancini, G. M. S., Nov 2015, In : Genetics in Medicine. 17, 11, p. 843-853

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Scopus)
2013

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Drüsedau, M., Spierts, S., Coonen, E., van Tienen, F. H. J., van Golde, R. J. T., de Coo, I. F. M., Geraedts, J. P. M., de Die-Smulders, C. E. M. & Smeets, H. J. M., Feb 2013, In : Journal of Medical Genetics. 50, 2, p. 125-132 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

28 Citations (Scopus)