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Page 1
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E. AlMoallem B, et al. Among authors: de leeneer k, de baere e, de zaeytijd j. Invest Ophthalmol Vis Sci. 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. Invest Ophthalmol Vis Sci. 2015. PMID: 25678693
Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.
De Leeneer K, Hellemans J, Steyaert W, Lefever S, Vereecke I, Debals E, Crombez B, Baetens M, Van Heetvelde M, Coppieters F, Vandesompele J, De Jaegher A, De Baere E, Coucke P, Claes K. De Leeneer K, et al. Among authors: de jaegher a, de baere e. Hum Mutat. 2015 Mar;36(3):379-87. doi: 10.1002/humu.22739. Hum Mutat. 2015. PMID: 25504618
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E. Bauwens M, et al. Among authors: de leeneer k. Genet Med. 2019 Aug;21(8):1761-1771. doi: 10.1038/s41436-018-0420-y. Epub 2019 Jan 23. Genet Med. 2019. PMID: 30670881 Free PMC article.
Targeted resequencing and variant validation using pxlence PCR assays.
Coppieters F, Verniers K, De Leeneer K, Vandesompele J, Lefever S. Coppieters F, et al. Among authors: de leeneer k. Biomol Detect Quantif. 2015 Oct 9;6:22-6. doi: 10.1016/j.bdq.2015.09.001. eCollection 2016 Jan. Biomol Detect Quantif. 2015. PMID: 27077044 Free PMC article.
Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.
De Leeneer K, Van Bockstal M, De Brouwer S, Swietek N, Schietecatte P, Sabbaghian N, Van den Ende J, Willocx S, Storm K, Blaumeiser B, Van Asperen CJ, Wijnen JT, Leunen K, Legius E, Michils G, Matthijs G, Blok MJ, Gomez-Garcia E, De Paepe A, Tischkowitz M, Poppe B, Claes K. De Leeneer K, et al. Among authors: de paepe a, de brouwer s. Breast Cancer Res Treat. 2012 May;133(1):393-8. doi: 10.1007/s10549-012-1998-4. Epub 2012 Feb 28. Breast Cancer Res Treat. 2012. PMID: 22370629 Free article.
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
Baetens M, Van Laer L, De Leeneer K, Hellemans J, De Schrijver J, Van De Voorde H, Renard M, Dietz H, Lacro RV, Menten B, Van Criekinge W, De Backer J, De Paepe A, Loeys B, Coucke PJ. Baetens M, et al. Among authors: de leeneer k, de paepe a, de backer j, de schrijver j. Hum Mutat. 2011 Sep;32(9):1053-62. doi: 10.1002/humu.21525. Epub 2011 Jul 20. Hum Mutat. 2011. PMID: 21542060
Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
De Leeneer K, Coene I, Crombez B, Simkens J, Van den Broecke R, Bols A, Stragier B, Vanhoutte I, De Paepe A, Poppe B, Claes K. De Leeneer K, et al. Among authors: de paepe a. Breast Cancer Res Treat. 2012 Feb;132(1):87-95. doi: 10.1007/s10549-011-1544-9. Epub 2011 May 7. Breast Cancer Res Treat. 2012. PMID: 21553119
Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics.
De Leeneer K, De Schrijver J, Clement L, Baetens M, Lefever S, De Keulenaer S, Van Criekinge W, Deforce D, Van Nieuwerburgh F, Bekaert S, Pattyn F, De Wilde B, Coucke P, Vandesompele J, Claes K, Hellemans J. De Leeneer K, et al. Among authors: de wilde b, de keulenaer s, de schrijver j. PLoS One. 2011;6(9):e25531. doi: 10.1371/journal.pone.0025531. Epub 2011 Sep 30. PLoS One. 2011. PMID: 21980484 Free PMC article.
50 results