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Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Dafsari HS, et al. Among authors: karaca e. J Hum Genet. 2019 Aug;64(8):803-813. doi: 10.1038/s10038-019-0625-1. Epub 2019 Jun 5. J Hum Genet. 2019. PMID: 31165786
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Dafsari HS, et al. Among authors: karaca e. J Hum Genet. 2019 Oct;64(10):1051-1054. doi: 10.1038/s10038-019-0644-y. J Hum Genet. 2019. PMID: 31388109
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Gungor S, Oktay Y, Hiz S, Aranguren-Ibáñez Á, Kalafatcilar I, Yaramis A, Karaca E, Yis U, Sonmezler E, Ekinci B, Aslan M, Yilmaz E, Özgör B, Balaraju S, Szabo N, Laurie S, Beltran S, MacArthur DG, Hathazi D, Töpf A, Roos A, Lochmuller H, Vernos I, Horvath R. Gungor S, et al. Among authors: karaca e. iScience. 2020 Dec 30;24(1):101948. doi: 10.1016/j.isci.2020.101948. eCollection 2021 Jan 22. iScience. 2020. PMID: 33458610 Free PMC article.
Assessment of the CASP14 assembly predictions.
Ozden B, Kryshtafovych A, Karaca E. Ozden B, et al. Among authors: karaca e. Proteins. 2021 Dec;89(12):1787-1799. doi: 10.1002/prot.26199. Epub 2021 Aug 31. Proteins. 2021. PMID: 34337786 Free PMC article.
Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.
Cingöz S, Soydemir D, Öner TÖ, Karaca E, Özden B, Kurul SH, Bayram E; University of Washington Center for Mendelian Genomics; Coe BP, Nickerson DA, Eichler EE. Cingöz S, et al. Among authors: karaca e. Eur J Med Genet. 2022 Jun;65(6):104497. doi: 10.1016/j.ejmg.2022.104497. Epub 2022 Apr 14. Eur J Med Genet. 2022. PMID: 35430327 Free PMC article.
301 results