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WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT, Fernandez BA, Elsayed SM, Elsobky E, Verma I, Nair S, Turner EH, Smith JD, Jarvik GP, Byers PH. Pyott SM, et al. Among authors: tran tt. Am J Hum Genet. 2013 Apr 4;92(4):590-7. doi: 10.1016/j.ajhg.2013.02.009. Epub 2013 Mar 14. Am J Hum Genet. 2013. PMID: 23499310 Free PMC article.
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
Tran TT, Keller RB, Guillemyn B, Pepin M, Corteville JE, Khatib S, Fallah MS, Zeinali S, Malfait F, Symoens S, Coucke P, Witters P, Levtchenko E, Bagherian H, Nickerson DA, Bamshad MJ, Chong JX; University of Washington Center for Mendelian Genomics; Byers PH. Tran TT, et al. HGG Adv. 2021 Aug 20;2(4):100051. doi: 10.1016/j.xhgg.2021.100051. eCollection 2021 Oct 14. HGG Adv. 2021. PMID: 35047842 Free PMC article.
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind WH, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener MH; for University of Washington Center for Mendelian Genomics (UW-CMG), and Undiagnosed Diseases Network (UDN),; Byers PHH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. Stergachis AB, et al. Among authors: tran tt. Neurol Genet. 2023 Aug 8;9(5):e200090. doi: 10.1212/NXG.0000000000200090. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37560121 Free PMC article.
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Search for Soft Unclustered Energy Patterns in Proton-Proton Collisions at 13 TeV.
Hayrapetyan A, Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, Dragicevic M, Hussain PS, Jeitler M, Krammer N, Li A, Liko D, Mikulec I, Schieck J, Schöfbeck R, Schwarz D, Sonawane M, Templ S, Waltenberger W, Wulz CE, Darwish MR, Janssen T, Van Mechelen P, Breugelmans N, D'Hondt J, Dansana S, De Moor A, Delcourt M, Heyen F, Lowette S, Makarenko I, Müller D, Tavernier S, Tytgat M, Van Onsem GP, Van Putte S, Vannerom D, Clerbaux B, Das AK, De Lentdecker G, Evard H, Favart L, Gianneios P, Hohov D, Jaramillo J, Khalilzadeh A, Khan FA, Lee K, Mahdavikhorrami M, Malara A, Paredes S, Shahzad MA, Thomas L, Vanden Bemden M, Vander Velde C, Vanlaer P, De Coen M, Dobur D, Gokbulut G, Hong Y, Knolle J, Lambrecht L, Marckx D, Mestdach G, Mota Amarilo K, Samalan A, Skovpen K, Van Den Bossche N, van der Linden J, Wezenbeek L, Benecke A, Bethani A, Bruno G, Caputo C, De Favereau De Jeneret J, Delaere C, Donertas IS, Giammanco A, Guzel AO, Jain S, Lemaitre V, Lidrych J, Mastrapasqua P, Tran TT, Wertz S, Alves GA, Alves Gallo Pereira M, Coelho E, Correia Silva G, Hensel C, Menezes De Oliveira T, Moraes A, Rebello Teles P, Soeiro M, Vilela Pereira A, Aldá Júnior WL, … See abstract for full author list ➔ Hayrapetyan A, et al. Among authors: tran tt. Phys Rev Lett. 2024 Nov 8;133(19):191902. doi: 10.1103/PhysRevLett.133.191902. Phys Rev Lett. 2024. PMID: 39576923
1,478 results