Laatste update: 08/03/2016

Wetenschappelijke publicaties


Publicaties 2014

Vancampenhout K, Caljon B, Spits C, Stouffs K, Jonckheere A, De Meirleir L, Lissens W, Vanlander A, Smet J, De Paepe B, Van Coster R, Seneca S. A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome. PLoS One. 2014 Nov 10;9(11):e112950. doi: 10.1371/journal.pone.0112950. eCollection 2014. PubMed PMID: 25383547; PubMed Central PMCID: PMC4226615.

Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, Depasse F, De Jaegere S, De Ravel T, De Rademaeker M, Loeys B, Coppieters F, Leroy BP, De Baere E. An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. Hum Mutat. 2015 Jan;36(1):39-42. doi: 10.1002/humu.22716. PubMed PMID: 25346251.

Marín-Buera L, García-Bartolomé A, Morán M, López-Bernardo E, Cadenas S, Hidalgo B, Sánchez R, Seneca S, Arenas J, Martín MA, Ugalde C. Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency. J Proteomics. 2015 Jan 15;113:38-56. doi:10.1016/j.jprot.2014.09.007. Epub 2014 Sep 18. PubMed PMID: 25239759; PubMed Central PMCID: PMC4259860.

D'Ambrosio V, Votino C, Cos T, Boulanger S, Dheedene A, Jani J, Keymolen K. Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. Prenat Diagn. 2015 Jan;35(1):97-9. doi: 10.1002/pd.4490. Epub 2014 Oct 2. PubMed PMID: 25174843.

Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. Hum Genet. 2014 Nov;133(11):1359-67. doi: 10.1007/s00439-014-1469-6. Epub 2014 Jul 19. PubMed PMID: 25037250.

De Praeter C, Vanlander A, Vanhaesebrouck P, Smet J, Seneca S, De Sutter P, Van Coster R. Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions. Eur J Pediatr. 2015 Feb;174(2):267-70. doi: 10.1007/s00431-014-2370-y. Epub 2014 Jul 10. PubMed PMID: 25009317.

Harper J, Geraedts J, Borry P, Cornel MC, Dondorp WJ, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr; ESHG, ESHRE and EuroGentest2. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. Hum Reprod. 2014 Aug;29(8):1603-9. doi: 10.1093/humrep/deu130. Epub 2014 Jul 8. PubMed PMID: 25006203.

Petrussa L, Van de Velde H, De Rycke M. Dynamic regulation of DNA methyltransferases in human oocytes and preimplantation embryos after assisted reproductive technologies. Mol Hum Reprod. 2014 Sep;20(9):861-74. doi: 10.1093/molehr/gau049. Epub 2014 Jul 3. PubMed PMID: 24994815.

Winter C, Van Acker F, Bonduelle M, Desmyttere S, De Schrijver F, Nekkebroeck J. Cognitive and psychomotor development of 5- to 6-year-old singletons born after PGD: a prospective case-controlled matched study. Hum Reprod. 2014 Sep;29(9):1968-77. doi: 10.1093/humrep/deu165. Epub 2014 Jul 3. PubMed PMID:24993932.

Jacobs K, Mertzanidou A, Geens M, Nguyen HT, Staessen C, Spits C. Low-grade chromosomal mosaicism in human somatic and embryonic stem cell populations. Nat Commun. 2014 Jun 27;5:4227. doi: 10.1038/ncomms5227. PubMed PMID: 24970340.

Debray FG, Seneca S, Gonce M, Vancampenhaut K, Bianchi E, Boemer F, Weekers L, Smet J, Van Coster R. Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. Mitochondrion. 2014 Jul;17:101-5. doi: 10.1016/j.mito.2014.06.003. Epub 2014 Jun 20. PubMed PMID: 24956508.

Stouffs K, Seneca S, Lissens W. Genetic causes of male infertility. Ann Endocrinol (Paris). 2014 May;75(2):109-11. doi: 10.1016/j.ando.2014.03.004. Epub 2014 Apr 24. Review. PubMed PMID: 24768008.

Derks-Smeets IA, de Die-Smulders CE, Mackens S, van Golde R, Paulussen AD, Dreesen J, Tournaye H, Verdyck P, Tjan-Heijnen VC, Meijer-Hoogeveen M, De Greve J, Geraedts J, De Rycke M, Bonduelle M, Verpoest WM. Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors. Breast Cancer Res Treat. 2014 Jun;145(3):673-81. doi:10.1007/s10549-014-2951-5. Epub 2014 Apr 19. PubMed PMID: 24748567.

Seneca S, Vancampenhout K, Van Coster R, Smet J, Lissens W, Vanlander A, De Paepe B, Jonckheere A, Stouffs K, De Meirleir L. Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? Eur J Hum Genet. 2015 Jan;23(1):41-8. doi:10.1038/ejhg.2014.49. Epub 2014 Mar 26. PubMed PMID: 24667782; PubMed Central PMCID: PMC4266735.

Moutou C, Goossens V, Coonen E, De Rycke M, Kokkali G, Renwick P, SenGupta SB, Vesela K, Traeger-Synodinos J. ESHRE PGD Consortium data collection XII: cycles from January to December 2009 with pregnancy follow-up to October 2010. Hum Reprod. 2014 May;29(5):880-903. doi: 10.1093/humrep/deu012. Epub 2014 Mar 11.PubMed PMID: 24619432.

Vanakker O, Vilain C, Janssens K, Van der Aa N, Smits G, Bandelier C, Blaumeiser B, Bulk S, Caberg JH, De Leener A, De Rademaeker M, de Ravel T, Desir J, Destree A, Dheedene A, Gaillez S, Grisart B, Hellin AC, Janssens S, Keymolen K, Menten B, Pichon B, Ravoet M, Revencu N, Rombout S, Staessens C, Van Den Bogaert A, Van Den Bogaert K, Vermeesch JR, Kooy F, Sznajer Y, Devriendt K. Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. Eur J Med Genet. 2014 Mar;57(4):151-6. doi:10.1016/j.ejmg.2014.02.002. Epub 2014 Feb 15. Review. PubMed PMID: 24534801.

Winand R, Hens K, Dondorp W, de Wert G, Moreau Y, Vermeesch JR, Liebaers I, Aerts J. In vitro screening of embryos by whole-genome sequencing: now, in the future or never? Hum Reprod. 2014 Apr;29(4):842-51. doi: 10.1093/humrep/deu005.
Epub 2014 Feb 2. PubMed PMID: 24491297.