RdRp mutations are associated with SARS-CoV-2 genome evolution

por Eskier, Doğa, Karakülah, Gökhan, Suner, Aslı, Oktay, Yavuz
Publicado 2020

Mutation density changes in SARS-CoV-2 are related to the pandemic stage but to a lesser extent in the dominant strain with mutations in spike and RdRp

por Eskier, Doğa, Suner, Aslı, Karakülah, Gökhan, Oktay, Yavuz
Publicado 2020

Mutations of SARS-CoV-2 nsp14 exhibit strong association with increased genome-wide mutation load

por Eskier, Doğa, Suner, Aslı, Oktay, Yavuz, Karakülah, Gökhan
Publicado 2020

Editorial: Mental health: cell models to mechanisms

por Harwood, Adrian J., Petrakis, Spyros, Oktay, Yavuz, Pasterkamp, R. Jeroen
Publicado 2023

Current mutatome of SARS-CoV-2 in Turkey reveals mutations of interest

por ESKİER, Doğa, AKALP, Evren, DALAN, Özlem, KARAKÜLAH, Gökhan, OKTAY, Yavuz
Publicado 2021

Different selection dynamics of S and RdRp between SARS-CoV-2 genomes with and without the dominant mutations

por Koçhan, Necla, Eskier, Doğa, Suner, Aslı, Karakülah, Gökhan, Oktay, Yavuz
Publicado 2021

An in silico approach to the identification of diagnostic and prognostic markers in low-grade gliomas

por Özbek, Melih, Toy, Halil Ibrahim, Oktay, Yavuz, Karakülah, Gökhan, Suner, Aslı, Pavlopoulou, Athanasia
Publicado 2023

Cardiolipin defines the interactome of the major ADP/ATP carrier protein of the mitochondrial inner membrane

por Claypool, Steven M., Oktay, Yavuz, Boontheung, Pinmanee, Loo, Joseph A., Koehler, Carla M.
Publicado 2008

Cardiolipin defines the interactome of the major ADP/ATP carrier protein of the mitochondrial inner membrane

por Claypool, Steven M., Oktay, Yavuz, Boontheung, Pinmanee, Loo, Joseph A., Koehler, Carla M.
Publicado 2012

Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?

por KÖSE, Engin, ÇAĞATAY, Elçin, YARAŞ, Tutku, TEKE KISA, Pelin, GÜLER, Seminay, ARSLAN GÜLTEN, Zümrüt, AKARSU, Mesut, OKTAY, Yavuz, AYAR KAYALI, Hülya, ARSLAN, Nur
Publicado 2022

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

por Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, *Aysenur, Horvath, Rita, Oktay, Yavuz
Publicado 2020

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

por Töpf, Ana, Oktay, Yavuz, Balaraju, Sunitha, Yilmaz, Elmasnur, Sonmezler, Ece, Yis, Uluc, Laurie, Steven, Thompson, Rachel, Roos, Andreas, MacArthur, Daniel G., Yaramis, Ahmet, Güngör, Serdal, Lochmüller, Hanns, Hiz, Semra, Horvath, Rita
Publicado 2019

Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms

por Ülgen, Ege, Karacan, Sıla, Gerlevik, Umut, Can, Özge, Bilguvar, Kaya, Oktay, Yavuz, B. Akyerli, Cemaliye, K. Yüksel, Şirin, E. Danyeli, Ayça, Tihan, Tarık, Sezerman, O. Uğur, Yakıcıer, M. Cengiz, Pamir, M. Necmettin, Özduman, Koray
Publicado 2020

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

por Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra
Publicado 2022

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

por Oktay, Yavuz, Güngör, Serdal, Zeltner, Lena, Wiethoff, Sarah, Schöls, Ludger, Sonmezler, Ece, Yilmaz, Elmasnur, Munro, Benjamin, Bender, Benjamin, Kernstock, Christoph, Kaemereit, Sofie, Liepelt, Inga, Töpf, Ana, Yis, Uluc, Laurie, Steven, Yaramis, Ahmet, Zuchner, Stephan, Hiz, Semra, Lochmüller, Hanns, Schüle, Rebecca, Horvath, Rita
Publicado 2020

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

por Gungor, Serdal, Oktay, Yavuz, Hiz, Semra, Aranguren-Ibáñez, Álvaro, Kalafatcilar, Ipek, Yaramis, Ahmet, Karaca, Ezgi, Yis, Uluc, Sonmezler, Ece, Ekinci, Burcu, Aslan, Mahmut, Yilmaz, Elmasnur, Özgör, Bilge, Balaraju, Sunitha, Szabo, Nora, Laurie, Steven, Beltran, Sergi, MacArthur, Daniel G., Hathazi, Denisa, Töpf, Ana, Roos, Andreas, Lochmuller, Hanns, Vernos, Isabelle, Horvath, Rita
Publicado 2020

IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation

por Oktay, Yavuz, Ülgen, Ege, Can, Özge, Akyerli, Cemaliye B., Yüksel, Şirin, Erdemgil, Yiğit, Durası, İ. Melis, Henegariu, Octavian Ioan, Nanni, E. Paolo, Selevsek, Nathalie, Grossmann, Jonas, Erson-Omay, E. Zeynep, Bai, Hanwen, Gupta, Manu, Lee, William, Turcan, Şevin, Özpınar, Aysel, Huse, Jason T., Sav, M. Aydın, Flanagan, Adrienne, Günel, Murat, Sezerman, O. Uğur, Yakıcıer, M. Cengiz, Pamir, M. Necmettin, Özduman, Koray
Publicado 2016

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

por Hiz Kurul, Semra, Oktay, Yavuz, Töpf, Ana, Szabó, Nóra Zs, Güngör, Serdal, Yaramis, Ahmet, Sonmezler, Ece, Matalonga, Leslie, Yis, Uluc, Schon, Katherine, Paramonov, Ida, Kalafatcilar, İpek Polat, Gao, Fei, Rieger, Aliz, Arslan, Nur, Yilmaz, Elmasnur, Ekinci, Burcu, Edem, Pinar Pulat, Aslan, Mahmut, Özgör, Bilge, Lochmüller, Angela, Nair, Ashwati, O'Heir, Emily, Lovgren, Alysia K, Maroofian, Reza, Houlden, Henry, Polavarapu, Kiran, Roos, Andreas, Müller, Juliane S, Hathazi, Denisa, Chinnery, Patrick F, Laurie, Steven, Beltran, Sergi, Lochmüller, Hanns, Horvath, Rita
Publicado 2021

Neuromuscular disease genetics in under-represented populations: increasing data diversity

por Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo S S, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, M V Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G
Publicado 2023