Schrauwen I - Search Results

1

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.

2

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.

Salokivi T, Parkkola R, Rajendran Y, Bharadwaj T, Acharya A, Leal SM, Järvelä I, Arvio M, Schrauwen I. Salokivi T, et al. Among authors: schrauwen i. Am J Med Genet A. 2024 Apr;194(4):e63478. doi: 10.1002/ajmg.a.63478. Epub 2023 Nov 17. Am J Med Genet A. 2024. PMID: 37975178 Free PMC article.

3

Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants.

Xie Z, Sun C, Liu C, Xie Z, Wei L, Yu J, Ling C, Guo X, Liu Y, Yu M, Leng Y, Meng L, Sun Y, Deng J, Leal SM, Schrauwen I, Wang Z, Yuan Y. Xie Z, et al. Among authors: schrauwen i. J Neurol. 2023 Feb;270(2):925-937. doi: 10.1007/s00415-022-11432-0. Epub 2022 Nov 2. J Neurol. 2023. PMID: 36319768

4

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.

5

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa.

Sattar S, Bharadwaj T, Kalsoom UE, Acharya A, Khan S, Leal SM, Schrauwen I. Sattar S, et al. Among authors: schrauwen i. BMC Med Genomics. 2025 Feb 4;18(1):26. doi: 10.1186/s12920-024-02077-1. BMC Med Genomics. 2025. PMID: 39905456 Free PMC article.

6

Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.

Esterhuizen AI, Tiffin N, Riordan G, Wessels M, Burman RJ, Aziz MC, Calhoun JD, Gunti J, Amiri EE, Ramamurthy A, Bamshad MJ; University of Washington Centre for Mendelian Genomics (UW-CMG); Mefford HC, Ramesar R, Wilmshurst JM, Carvill GL. Esterhuizen AI, et al. Genet Med. 2023 Feb;25(2):100333. doi: 10.1016/j.gim.2022.11.002. Epub 2022 Dec 8. Genet Med. 2023. PMID: 36480001 Free article.

7

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.

Schrauwen I, Rajendran Y, Acharya A, Öhman S, Arvio M, Paetau R, Siren A, Avela K, Granvik J, Leal SM, Määttä T, Kokkonen H, Järvelä I. Schrauwen I, et al. Sci Rep. 2024 May 16;14(1):11239. doi: 10.1038/s41598-024-62009-y. Sci Rep. 2024. PMID: 38755281 Free PMC article.

8

A Novel Variant in VPS13B Underlying Cohen Syndrome.

Hussain A, Acharya A, Bharadwaj T, Genomics UOWCFM, Leal SM, Khaliq A, Mir A, Schrauwen I. Hussain A, et al. Among authors: schrauwen i. Biomed Res Int. 2023 Apr 12;2023:9993801. doi: 10.1155/2023/9993801. eCollection 2023. Biomed Res Int. 2023. PMID: 37090188 Free PMC article.

9

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.

Järvelä I, Paetau R, Rajendran Y, Acharya A, Bharadwaj T, Leal SM, Lehesjoki AE, Palomäki M, Schrauwen I. Järvelä I, et al. Among authors: schrauwen i. Brain Commun. 2024 Apr 18;6(3):fcae142. doi: 10.1093/braincomms/fcae142. eCollection 2024. Brain Commun. 2024. PMID: 38712318 Free PMC article. Review.

10

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.

Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G. Thys M, et al. Among authors: schrauwen i. Eur J Hum Genet. 2007 Mar;15(3):362-8. doi: 10.1038/sj.ejhg.5201761. Epub 2007 Jan 10. Eur J Hum Genet. 2007. PMID: 17213839

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