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Page 1
Insufficient evidence for a role of SERPINF1 in otosclerosis.
Valgaeren H, Sommen M, Beyens M, Vandeweyer G, Schrauwen I, Schepers A, Schatteman I, Topsakal V, Dhooge I, Kunst H, Zanetti D, Huber AM, Hoischen A, Fransen E, Van Camp G. Valgaeren H, et al. Among authors: schrauwen i. Mol Genet Genomics. 2019 Aug;294(4):1001-1006. doi: 10.1007/s00438-019-01558-8. Epub 2019 Apr 9. Mol Genet Genomics. 2019. PMID: 30968248
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
Bilal M, Khan H, Khan MJ, Haack TB, Buchert R, Liaqat K, Ullah K, Ahmed S, Bharadwaj T, Acharya A, Peralta S, Najumuddin, Ali H, Hasni MS, Schrauwen I, Ullah A, Ahmad W, Leal SM. Bilal M, et al. Among authors: schrauwen i. Eur J Hum Genet. 2023 Nov;31(11):1270-1274. doi: 10.1038/s41431-023-01450-5. Epub 2023 Sep 8. Eur J Hum Genet. 2023. PMID: 37684519 Free PMC article.
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Frankel E, Podder A, Sharifi M, Pillai R, Belnap N, Ramsey K, Dodson J, Venugopal P, Brzezinski M, Llaci L, Gerald B, Mills G, Sanchez-Castillo M, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Naymik M, Schrauwen I, Craig DW, Piras IS, Huentelman MJ, Schork NJ, Narayanan V, Rangasamy S. Frankel E, et al. Among authors: schrauwen i. Cells. 2023 May 21;12(10):1437. doi: 10.3390/cells12101437. Cells. 2023. PMID: 37408271 Free PMC article.
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.
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
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.
Thys M, Schrauwen I, Vanderstraeten K, Janssens K, Dieltjens N, Van Den Bogaert K, Fransen E, Chen W, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Claes J, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G. Thys M, et al. Among authors: schrauwen i. Hum Mol Genet. 2007 Sep 1;16(17):2021-30. doi: 10.1093/hmg/ddm150. Epub 2007 Jun 22. Hum Mol Genet. 2007. PMID: 17588962
134 results