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Page 1
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: yaramis a. 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.
Severe neurodevelopmental disease caused by a homozygous TLK2 variant.
Töpf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Güngör S, Lochmüller H, Hiz S, Horvath R. Töpf A, et al. Among authors: yaramis a. Eur J Hum Genet. 2020 Mar;28(3):383-387. doi: 10.1038/s41431-019-0519-x. Eur J Hum Genet. 2020. PMID: 31558842 Free PMC article.
COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.
Yaramis A, Lochmüller H, Töpf A, Sonmezler E, Yilmaz E, Hiz S, Yis U, Gungor S, Ipek Polat A, Edem P, Beltran S, Laurie S, Yaramis A, Horvath R, Oktay Y. Yaramis A, et al. Neurol Genet. 2020 Jan 10;6(1):e392. doi: 10.1212/NXG.0000000000000392. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042920 Free PMC article.
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.
Oktay Y, Güngör S, Zeltner L, Wiethoff S, Schöls L, Sonmezler E, Yilmaz E, Munro B, Bender B, Kernstock C, Kaemereit S, Liepelt I, Töpf A, Yis U, Laurie S, Yaramis A, Zuchner S, Hiz S, Lochmüller H, Schüle R, Horvath R. Oktay Y, et al. Among authors: yaramis a. J Neuromuscul Dis. 2020;7(3):301-308. doi: 10.3233/JND-200510. J Neuromuscul Dis. 2020. PMID: 32444556 Free PMC article.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, Sonmezler E, Matalonga L, Yis U, Schon K, Paramonov I, Kalafatcilar İP, Gao F, Rieger A, Arslan N, Yilmaz E, Ekinci B, Edem PP, Aslan M, Özgör B, Lochmüller A, Nair A, O'Heir E, Lovgren AK; Broad Center for Mendelian Genomics; Maroofian R, Houlden H, Polavarapu K, Roos A, Müller JS, Hathazi D, Chinnery PF, Laurie S, Beltran S, Lochmüller H, Horvath R. Hiz Kurul S, et al. Among authors: yaramis a. Brain. 2022 May 24;145(4):1507-1518. doi: 10.1093/brain/awab395. Brain. 2022. PMID: 34791078 Free PMC article.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors. Matalonga L, et al. J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30. J Mol Diagn. 2020. PMID: 32619640 Free PMC article.
A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis.
Häusler M, Aksoy A, Alber M, Altunbasak S, Angay A, Arsene OT, Craiu D, Hartmann H, Hiz-Kurul S, Ichiyama T, Iliescu C, Jocic-Jakubi B, Korinthenberg R, Köse G, Lukban MB, Ozkan M, Patcheva I, Teichler J, Vintan M, Yaramis A, Yarar C, Yis U, Yuksel D, Anlar B. Häusler M, et al. Among authors: yaramis a. Neuropediatrics. 2015 Dec;46(6):377-84. doi: 10.1055/s-0035-1564618. Epub 2015 Oct 19. Neuropediatrics. 2015. PMID: 26479761
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
Kancheva D, Atkinson D, De Rijk P, Zimon M, Chamova T, Mitev V, Yaramis A, Maria Fabrizi G, Topaloglu H, Tournev I, Parman Y, Parma Y, Battaloglu E, Estrada-Cuzcano A, Jordanova A. Kancheva D, et al. Among authors: yaramis a. Genet Med. 2016 Jun;18(6):600-7. doi: 10.1038/gim.2015.139. Epub 2015 Oct 22. Genet Med. 2016. PMID: 26492578 Free article.
44 results