Schrauwen I - Search Results

1

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

Uwibambe E, Yalcouyé A, Aboagye ET, Xhakaza L, Popel K, Dukuze N, Bharadwaj T, de Kock C, Schrauwen I, Leal SM, Mutesa L, Wonkam A. Uwibambe E, et al. Among authors: schrauwen i. BMC Med Genomics. 2025 May 13;18(1):85. doi: 10.1186/s12920-025-02153-0. BMC Med Genomics. 2025. PMID: 40361155 Free PMC article.

2

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.

3

A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear.

Schrauwen I, Hasin-Brumshtein Y, Corneveaux JJ, Ohmen J, White C, Allen AN, Lusis AJ, Van Camp G, Huentelman MJ, Friedman RA. Schrauwen I, et al. Hear Res. 2016 Mar;333:266-274. doi: 10.1016/j.heares.2015.08.013. Epub 2015 Sep 1. Hear Res. 2016. PMID: 26341477 Free PMC article.

4

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.

Fransen E, Bonneux S, Corneveaux JJ, Schrauwen I, Di Berardino F, White CH, Ohmen JD, Van de Heyning P, Ambrosetti U, Huentelman MJ, Van Camp G, Friedman RA. Fransen E, et al. Among authors: schrauwen i. Eur J Hum Genet. 2015 Jan;23(1):110-5. doi: 10.1038/ejhg.2014.56. Epub 2014 Jun 18. Eur J Hum Genet. 2015. PMID: 24939585 Free PMC article.

5

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S. Lemke JR, et al. Among authors: schrauwen i. Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6. Neurology. 2016. PMID: 27164704 Free PMC article.

6

Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype.

Sommen M, Van Camp G, Liktor B, Csomor P, Fransen E, Sziklai I, Schrauwen I, Karosi T. Sommen M, et al. Among authors: schrauwen i. Otol Neurotol. 2014 Jul;35(6):1058-64. doi: 10.1097/MAO.0000000000000334. Otol Neurotol. 2014. PMID: 24643032

7

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.

Schrauwen I, Chakchouk I, Liaqat K, Jan A, Nasir A, Hussain S, Nickerson DA, Bamshad MJ, Ullah A, Ahmad W, Leal SM. Schrauwen I, et al. Hum Genet. 2018 Jul;137(6-7):471-478. doi: 10.1007/s00439-018-1899-7. Epub 2018 Jul 3. Hum Genet. 2018. PMID: 29971487 Free PMC article.

8

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Irfanullah; University of Washington Center for Mendelian Genomics; Nickerson DA, Bamshad MJ, Shah K, Ahmad W, Leal SM. Schrauwen I, et al. BMC Med Genet. 2018 Jul 20;19(1):122. doi: 10.1186/s12881-018-0618-5. BMC Med Genet. 2018. PMID: 30029624 Free PMC article.

9

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM. Santos-Cortez RLP, et al. Among authors: schrauwen i. Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22. Hum Genet. 2018. PMID: 30167849 Free PMC article.

10

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.

Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. Among authors: schrauwen i. J Hum Genet. 2018 Nov;63(11):1099-1107. doi: 10.1038/s10038-018-0502-3. Epub 2018 Sep 3. J Hum Genet. 2018. PMID: 30177809 Free PMC article.

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