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Page 1
Status quo of annotation of human disease variants.
Venselaar H, Camilli F, Gholizadeh S, Snelleman M, Brunner HG, Vriend G. Venselaar H, et al. Among authors: vriend g. BMC Bioinformatics. 2013 Dec 4;14:352. doi: 10.1186/1471-2105-14-352. BMC Bioinformatics. 2013. PMID: 24305467 Free PMC article.
Homology modelling and spectroscopy, a never-ending love story.
Venselaar H, Joosten RP, Vroling B, Baakman CA, Hekkelman ML, Krieger E, Vriend G. Venselaar H, et al. Among authors: vriend g. Eur Biophys J. 2010 Mar;39(4):551-63. doi: 10.1007/s00249-009-0531-0. Epub 2009 Aug 29. Eur Biophys J. 2010. PMID: 19718498 Free PMC article. Review.
A text-mining analysis of the human phenome.
van Driel MA, Bruggeman J, Vriend G, Brunner HG, Leunissen JA. van Driel MA, et al. Among authors: vriend g. Eur J Hum Genet. 2006 May;14(5):535-42. doi: 10.1038/sj.ejhg.5201585. Eur J Hum Genet. 2006. PMID: 16493445
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Collin RW, et al. Among authors: vriend g. Am J Hum Genet. 2008 Jan;82(1):125-38. doi: 10.1016/j.ajhg.2007.09.008. Am J Hum Genet. 2008. PMID: 18179891 Free PMC article.
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.
Oh SK, Baek JI, Weigand KM, Venselaar H, Swarts HG, Park SH, Hashim Raza M, Jung DJ, Choi SY, Lee SH, Friedrich T, Vriend G, Koenderink JB, Kim UK, Lee KY. Oh SK, et al. Among authors: vriend g. Eur J Hum Genet. 2015 May;23(5):639-45. doi: 10.1038/ejhg.2014.154. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138102 Free PMC article.
248 results