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143 results

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Page 1
Rare-variant association analysis reveals known and new age-related hearing loss genes.
Cornejo-Sanchez DM, Li G, Fabiha T, Wang R, Acharya A, Everard JL, Kadlubowska MK, Huang Y, Schrauwen I, Wang GT, DeWan AT, Leal SM. Cornejo-Sanchez DM, et al. Among authors: schrauwen i. Eur J Hum Genet. 2023 Jun;31(6):638-647. doi: 10.1038/s41431-023-01302-2. Epub 2023 Feb 15. Eur J Hum Genet. 2023. PMID: 36788145 Free PMC article.
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Siekierska A, et al. Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w. Nat Commun. 2019. PMID: 30755616 Free PMC article.
Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease.
Giraldo M, Lopera F, Siniard AL, Corneveaux JJ, Schrauwen I, Carvajal J, Muñoz C, Ramirez-Restrepo M, Gaiteri C, Myers AJ, Caselli RJ, Kosik KS, Reiman EM, Huentelman MJ. Giraldo M, et al. Among authors: schrauwen i. Neurobiol Aging. 2013 Aug;34(8):2077.e11-8. doi: 10.1016/j.neurobiolaging.2013.02.016. Epub 2013 Apr 9. Neurobiol Aging. 2013. PMID: 23582655 Free PMC article.
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. 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 the first otosclerosis family linked to OTSC10.
Weegerink NJ, Schrauwen I, Huygen PL, Pennings RJ, Cremers CW, Van Camp G, Kunst HP. Weegerink NJ, et al. Among authors: schrauwen i. Laryngoscope. 2011 Apr;121(4):838-45. doi: 10.1002/lary.21463. Laryngoscope. 2011. PMID: 21433022
143 results