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Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H. Schraders M, et al. Among authors: weegerink nj. Am J Hum Genet. 2011 May 13;88(5):628-34. doi: 10.1016/j.ajhg.2011.04.012. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549342 Free PMC article.
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP. Weegerink NJ, et al. J Assoc Res Otolaryngol. 2011 Dec;12(6):753-66. doi: 10.1007/s10162-011-0282-3. Epub 2011 Jul 23. J Assoc Res Otolaryngol. 2011. PMID: 21786053 Free PMC article.
Audiometric characteristics of a Dutch family with Muckle-Wells syndrome.
Weegerink NJ, Schraders M, Leijendeckers J, Slieker K, Huygen PL, Hoefsloot L, Oostrik J, Pennings RJ, Simon A, Snik A, Kremer H, Kunst HP. Weegerink NJ, et al. Hear Res. 2011 Dec;282(1-2):243-51. doi: 10.1016/j.heares.2011.07.006. Epub 2011 Jul 23. Hear Res. 2011. PMID: 21810457
Phenotypes of two Dutch DFNA3 families with mutations in GJB2.
Weegerink NJ, Pennings RJ, Huygen PL, Hoefsloot LH, Cremers CW, Kunst HP. Weegerink NJ, et al. Ann Otol Rhinol Laryngol. 2011 Mar;120(3):191-7. doi: 10.1177/000348941112000308. Ann Otol Rhinol Laryngol. 2011. PMID: 21510145
A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44.
Schrauwen I, Weegerink NJ, Fransen E, Claes C, Pennings RJ, Cremers CW, Huygen PL, Kunst HP, Van Camp G. Schrauwen I, et al. Among authors: weegerink nj. Clin Genet. 2011 May;79(5):495-7. doi: 10.1111/j.1399-0004.2010.01576.x. Clin Genet. 2011. PMID: 21470211 No abstract available.
Phenotype of a Belgian Family With 6p25 Deletion Syndrome.
Weegerink NJ, Swinnen FK, Vanakker OM, Casselman JW, Dhooge IJ. Weegerink NJ, et al. Ann Otol Rhinol Laryngol. 2016 Sep;125(9):734-45. doi: 10.1177/0003489416650687. Epub 2016 May 30. Ann Otol Rhinol Laryngol. 2016. PMID: 27242366