Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
Hannes, F D, Sharp, A J, Mefford, H C, de Ravel, T, Ruivenkamp, C A, Breuning, M H, Fryns, J-P, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R C, Cooper, G M, Regan, R, Knight, S J L, Eichler, E E, Vermeesch, J R
Published in Journal of medical genetics (01.04.2009)
Published in Journal of medical genetics (01.04.2009)
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Clinical implementation of NIPT - technical and biological challenges
Brady, P., Brison, N., Van Den Bogaert, K., de Ravel, T., Peeters, H., Van Esch, H., Devriendt, K., Legius, E., Vermeesch, J.R.
Published in Clinical genetics (01.05.2016)
Published in Clinical genetics (01.05.2016)
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Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia
Marynen, Peter, Hagemeijer, Anne, Graux, C, Cools, J, Melotte, C, Quentmeier, H, Ferrando, A, Levine, R, Vermeesch, J.R, Stul, M, Dutta, B, Boeckx, N, Bosly, A, Heimann, P, Uyttebroeck, A, Mentens, N, Somers, R, MacLeod, R.A.F, Drexler, H.G, Look, A.T, Gilliland, D.G, Michaux, L, Vandenberghe, P, Wlodarska, I
Published in Nature genetics (01.10.2004)
Published in Nature genetics (01.10.2004)
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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
Maas, N M C, Van Buggenhout, G, Hannes, F, Thienpont, B, Sanlaville, D, Kok, K, Midro, A, Andrieux, J, Anderlid, B-M, Schoumans, J, Hordijk, R, Devriendt, K, Fryns, J-P, Vermeesch, J R
Published in Journal of medical genetics (01.02.2008)
Published in Journal of medical genetics (01.02.2008)
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PGD for a complex chromosomal rearrangement by array comparative genomic hybridization
Vanneste, E., Melotte, C., Voet, T., Robberecht, C., Debrock, S., Pexsters, A., Staessen, C., Tomassetti, C., Legius, E., D'Hooghe, T., Vermeesch, J.R.
Published in Human reproduction (Oxford) (01.04.2011)
Published in Human reproduction (Oxford) (01.04.2011)
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17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
Grisart, B, Willatt, L, Destrée, A, Fryns, J-P, Rack, K, de Ravel, T, Rosenfeld, J, Vermeesch, J R, Verellen-Dumoulin, C, Sandford, R
Published in Journal of medical genetics (01.08.2009)
Published in Journal of medical genetics (01.08.2009)
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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
Van Buggenhout, G, Melotte, C, Dutta, B, Froyen, G, Van Hummelen, P, Marynen, P, Matthijs, G, de Ravel, T, Devriendt, K, Fryns, J P, Vermeesch, J R
Published in Journal of medical genetics (01.09.2004)
Published in Journal of medical genetics (01.09.2004)
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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
Dimitrov, B I, de Ravel, T, Van Driessche, J, de Die-Smulders, C, Toutain, A, Vermeesch, J R, Fryns, J P, Devriendt, K, Debeer, P
Published in Journal of medical genetics (01.02.2010)
Published in Journal of medical genetics (01.02.2010)
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Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions
Vanneste, E., Melotte, C., Debrock, S., D’Hooghe, T., Brems, H., Fryns, J.P., Legius, E., Vermeesch, J.R.
Published in Human reproduction (Oxford) (01.06.2009)
Published in Human reproduction (Oxford) (01.06.2009)
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Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos
Mertzanidou, A., Wilton, L., Cheng, J., Spits, C., Vanneste, E., Moreau, Y., Vermeesch, J.R., Sermon, K.
Published in Human reproduction (Oxford) (01.01.2013)
Published in Human reproduction (Oxford) (01.01.2013)
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Modulation of Aneuploidy in Leishmania donovani during Adaptation to Different In Vitro and In Vivo Environments and Its Impact on Gene Expression
Dumetz, F, Imamura, H, Sanders, M, Seblova, V, Myskova, J, Pescher, P, Vanaerschot, M, Meehan, C J, Cuypers, B, De Muylder, G, Späth, G F, Bussotti, G, Vermeesch, J R, Berriman, M, Cotton, J A, Volf, P, Dujardin, J C, Domagalska, M A
Published in mBio (23.05.2017)
Published in mBio (23.05.2017)
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Recent developments in genetics and medically assisted reproduction: from research to clinical applications
Harper, J C, Aittomäki, K, Borry, P, Cornel, M C, de Wert, G, Dondorp, W, Geraedts, J, Gianaroli, L, Ketterson, K, Liebaers, I, Lundin, K, Mertes, H, Morris, M, Pennings, G, Sermon, K, Spits, C, Soini, S, van Montfoort, A P A, Veiga, A, Vermeesch, J R, Viville, S, Macek, Jr, M
Published in European journal of human genetics : EJHG (01.01.2018)
Published in European journal of human genetics : EJHG (01.01.2018)
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Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event
Vermeesch, J R, Thoelen, R, Salden, I, Raes, M, Matthijs, G, Fryns, J-P
Published in Journal of medical genetics (01.08.2003)
Published in Journal of medical genetics (01.08.2003)
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Journal Article
Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29
Chabchoub, E., Cogulu, O., Durmaz, B., Vermeesch, J.R., Ozkinay, F., Fryns, J.-P.
Published in Dermatology (Basel) (01.01.2011)
Published in Dermatology (Basel) (01.01.2011)
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Genomewide copy number alteration screening of circulating plasma DNA: potential for the detection of incipient tumors
Lenaerts, L., Vandenberghe, P., Brison, N., Che, H., Neofytou, M., Verheecke, M., Leemans, L., Maggen, C., Dewaele, B., Dehaspe, L., Vanderschueren, S., Dierickx, D., Vandecaveye, V., Amant, F., Vermeesch, J.R.
Published in Annals of oncology (01.01.2019)
Published in Annals of oncology (01.01.2019)
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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
Menten, B, Maas, N, Thienpont, B, Buysse, K, Vandesompele, J, Melotte, C, de Ravel, T, Van Vooren, S, Balikova, I, Backx, L, Janssens, S, De Paepe, A, De Moor, B, Moreau, Y, Marynen, P, Fryns, J-P, Mortier, G, Devriendt, K, Speleman, F, Vermeesch, J R
Published in Journal of medical genetics (01.08.2006)
Published in Journal of medical genetics (01.08.2006)
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Single closed-tube quantitative real-time PCR assay with dual-labelled probes for improved sex determination of equine embryos
De Coster, T., Van Poucke, M., Bogado Pascottini, O., Angel-Velez, D., Van den Branden, E., Peere, S., Papas, M., Gerits, I., Govaere, J., Peelman, L., Vermeesch, J.R., Van Soom, A., Smits, K.
Published in Animal (Cambridge, England) (01.11.2023)
Published in Animal (Cambridge, England) (01.11.2023)
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