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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG. Zazo Seco C, et al. Among authors: kunst hp. Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000701 Free PMC article.
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H. Schraders M, et al. Among authors: kunst hp. Am J Hum Genet. 2010 Feb 12;86(2):138-47. doi: 10.1016/j.ajhg.2009.12.017. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137778 Free PMC article.
SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.
Kunst HP, Rutten MH, de Mönnink JP, Hoefsloot LH, Timmers HJ, Marres HA, Jansen JC, Kremer H, Bayley JP, Cremers CW. Kunst HP, et al. Clin Cancer Res. 2011 Jan 15;17(2):247-54. doi: 10.1158/1078-0432.CCR-10-0420. Epub 2011 Jan 11. Clin Cancer Res. 2011. PMID: 21224366 Free article.
Causes of permanent childhood hearing impairment.
Korver AM, Admiraal RJ, Kant SG, Dekker FW, Wever CC, Kunst HP, Frijns JH, Oudesluys-Murphy AM; DECIBEL-collaborative study group. Korver AM, et al. Among authors: kunst hp. Laryngoscope. 2011 Feb;121(2):409-16. doi: 10.1002/lary.21377. Laryngoscope. 2011. PMID: 21271598 Review.
147 results