PIGG variant pathogenicity assessment reveals novel features within nineteen families. Models behind the mystery of establishing enhancer-promoter interactions.Įuropean Journal of Cell Biology. *shared first author #corresponding author. Weerts*, MJA, Lanko*, K, Guzman-Vega, FJ, Jackson, A, Ramakrishnan, R, Cardona-Londono, KJ, Pena-Guerra, KA, van Bever, Y, van Paassen, B, Kievit, A, van Slegtenhorst, M, Allen, NM, Kehoe, CM, Robinson, HK, Pang, L, Banu, SH, Zaman, M, Efthymiou, S, Houlden, H, Jarvela, I, Lauronen, L, Maatta, T, Schrauwen, I, Leal, SM, Ruivenkamp, CAL, Barge-Schaapveld, DQCM, Peeters-Scholte, CMPCD, Galehdari, H, Mazaheri, N, Sisodiya, SM, Harrison, V, Sun, A, Thies, J, Pedroza, LA, Taranchenko, YL, Chinn, IK, Lupski, JR, Garza-Flores, A, McGlothlin, J, Yang, L, Huang, S, Wang, X, Jewett, T, Rosso, G, Lin, X, Mohammed, S, Merritt, JL, Mirzaa, GM, Timms, AE, Scheck, J, Elting, M, Polstra, AM, Schenck, L, Ruzhnikov, MRZ, Vetro, A, Montomoli, M, Guerrini, R, Koboldt, DC, Mosher, TM, Pastore, MT, McBride, KL, Peng, J, Pan, Z, Willemsen, M, Koning, S, Turnpenny, PD, de Vries, BBA, Gilissen, C, Pfundt, R, Lees, M, Braddock, SR, Klemp, KC, Vansenne, F, van Gijn, M, Quindipan, C, Deardorff, MA, Hamm, JA, Putnam, AM, Baud, R, Walsh, L, Lynch, SA, Baptista, J, Person, RE, Monaghan, KG, Crunk, A, Keller-Ramey, J, Reich, A, Elloumi, HZ, Alders, M, Kerkhof, J, McConkey, H, Haghshenas, S, Genomics England Research Consortium, Maroofian, R, Sadikovic, B, Banka, S, Arold, ST, Barakat, TS# (2021), 2021, Aug 3. Girgis, Tainá Regina Damaceno Silveira, Peter Bauer, Audrey Schroeder, Chin-To Fong, Amber Begtrup, Meisam Babaei, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Mohammad Doosti, Najmeh Ahangari, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani, David Murphy, Elisa Cali, Ibrahim H Kaya, Mohammad AlMuhaizea, Dilek Colak, Cardona-Londoño KJ, Arold ST, Henry Houlden, Aida Bertoli-Avella, Namik Kaya#, Tahsin Stefan Barakat, # (2021), *shared first author #shared corresponding author.ĭelineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Eva Medico Salsench*, Reza Maroofian,*, Ruizhi Deng, Kristina Lanko, Anita Nikoncuk, Belén Pérez, Obdulia Sánchez-Lijarcio, Salvador Ibáñez-Mico, Antonina Wojcik, Marcelo Vargas, Nouriya Abbas Al-Sannaa, Marian Y. doi: 10.1042/EBC20200121 #corresponding authors.Įxpanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.īrain. Eva Medico Salsench, Faidra Karkala, Kristina Lanko#, Tahsin Stefan Barakat# (2021). The non-coding genome in genetic brain disorders: new targets for therapy?Įssays in Biochemistry. Two new cases of chromosome 12q14 deletions and review of the literature. Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.Yousefi S, Deng R, Lanko K, Salsench EM, Nikoncuk A, van der Linde HC, Perenthaler E, van Ham TJ, Mulugeta E#, Barakat TS# corresponding authors.Genome Medicine 13, 162 (2021).
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