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143 results

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A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V. Balak C, et al. Among authors: schrauwen i. Am J Med Genet A. 2018 Jul;176(7):1549-1558. doi: 10.1002/ajmg.a.38712. Am J Med Genet A. 2018. PMID: 30160831
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.
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.
Schrauwen I, Ealy M, Huentelman MJ, Thys M, Homer N, Vanderstraeten K, Fransen E, Corneveaux JJ, Craig DW, Claustres M, Cremers CW, Dhooge I, Van de Heyning P, Vincent R, Offeciers E, Smith RJ, Van Camp G. Schrauwen I, et al. Am J Hum Genet. 2009 Mar;84(3):328-38. doi: 10.1016/j.ajhg.2009.01.023. Epub 2009 Feb 19. Am J Hum Genet. 2009. PMID: 19230858 Free PMC article.
Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds.
Schrauwen I, Barber RM, Schatzberg SJ, Siniard AL, Corneveaux JJ, Porter BF, Vernau KM, Keesler RI, Matiasek K, Flegel T, Miller AD, Southard T, Mariani CL, Johnson GC, Huentelman MJ. Schrauwen I, et al. PLoS One. 2014 Nov 13;9(11):e112755. doi: 10.1371/journal.pone.0112755. eCollection 2014. PLoS One. 2014. PMID: 25393235 Free PMC article.
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.
Schrauwen I, Szelinger S, Siniard AL, Corneveaux JJ, Kurdoglu A, Richholt R, De Both M, Malenica I, Swaminathan S, Rangasamy S, Kulkarni N, Bernes S, Buchhalter J, Ramsey K, Craig DW, Narayanan V, Huentelman MJ. Schrauwen I, et al. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3896-904. doi: 10.1167/iovs.14-16261. Invest Ophthalmol Vis Sci. 2015. PMID: 26091538
143 results