Schrauwen I - Search Results

1

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

Schrauwen I, Szelinger S, Siniard AL, Kurdoglu A, Corneveaux JJ, Malenica I, Richholt R, Van Camp G, De Both M, Swaminathan S, Turk M, Ramsey K, Craig DW, Narayanan V, Huentelman MJ. Schrauwen I, et al. PLoS One. 2015 Jul 15;10(7):e0131797. doi: 10.1371/journal.pone.0131797. eCollection 2015. PLoS One. 2015. PMID: 26176221 Free PMC article.

2

Syntaxin 4 is essential for hearing in human and zebrafish.

Schrauwen I, Ghaffar A, Bharadwaj T, Shah K, Rehman S, Acharya A, Liaqat K, Lin NS, Everard JL, Khan A, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM. Schrauwen I, et al. Hum Mol Genet. 2023 Mar 20;32(7):1184-1192. doi: 10.1093/hmg/ddac257. Hum Mol Genet. 2023. PMID: 36355422 Free PMC article.

3

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.

4

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.

5

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.

6

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.

7

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.

8

Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.

Liaqat K, Bharadwaj T, Shah K, Nasir A, Acharya A, Khan S, Ullah I, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. Among authors: schrauwen i. Clin Genet. 2023 Oct;104(4):499-501. doi: 10.1111/cge.14390. Epub 2023 Jun 13. Clin Genet. 2023. PMID: 37311648 Free PMC article.

9

A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.

Adadey SM, Aboagye ET, Esoh K, Acharya A, Bharadwaj T, Lin NS, Amenga-Etego L, Awandare GA, Schrauwen I, Leal SM, Wonkam A. Adadey SM, et al. Among authors: schrauwen i. BMC Med Genomics. 2022 Nov 10;15(1):237. doi: 10.1186/s12920-022-01391-w. BMC Med Genomics. 2022. PMID: 36357908 Free PMC article.

10

A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.

Malik MA, Saqib MAN, Mientjes E, Acharya A, Alam MR, Wallaard I, Schrauwen I, Bamshad MJ, Santos-Cortez RLP, Elgersma Y, Leal SM, Ansar M. Malik MA, et al. Among authors: schrauwen i. Eur J Hum Genet. 2023 Dec;31(12):1447-1454. doi: 10.1038/s41431-023-01475-w. Epub 2023 Oct 11. Eur J Hum Genet. 2023. PMID: 37821758 Free PMC article.

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