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Page 1
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G. Sommen M, et al. Among authors: coucke p. Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27068579
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.
De Keulenaer S, Hellemans J, Lefever S, Renard JP, De Schrijver J, Van de Voorde H, Tabatabaiefar MA, Van Nieuwerburgh F, Flamez D, Pattyn F, Scharlaken B, Deforce D, Bekaert S, Van Criekinge W, Vandesompele J, Van Camp G, Coucke P. De Keulenaer S, et al. Among authors: coucke p. BMC Med Genomics. 2012 May 18;5:17. doi: 10.1186/1755-8794-5-17. BMC Med Genomics. 2012. PMID: 22607986 Free PMC article.
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Zazo Seco C, Oostrik J, Kremer H, Dheedene A, Claes C, Fransen E, Chaleshtori MH, Coucke P, Lee A, Moser T, Van Camp G. Schrauwen I, et al. Among authors: coucke p. Am J Hum Genet. 2012 Oct 5;91(4):636-45. doi: 10.1016/j.ajhg.2012.08.018. Epub 2012 Sep 13. Am J Hum Genet. 2012. PMID: 22981119 Free PMC article.
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, Chamberlin GP, Houseman M, Taylor GR, Van de Heyning CM, Fransen E, Rowland J, Cucci RA, Smith RJ, Van Camp G. Van Laer L, et al. Among authors: coucke p. J Med Genet. 2001 Aug;38(8):515-8. doi: 10.1136/jmg.38.8.515. J Med Genet. 2001. PMID: 11483639 Free PMC article.
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: coucke p. PLoS One. 2011;6(9):e25531. doi: 10.1371/journal.pone.0025531. Epub 2011 Sep 30. PLoS One. 2011. PMID: 21980484 Free PMC article.
537 results