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Page 1
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä 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, Lara-Taranchenko Y, 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 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, 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 ME, 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. Weerts MJA, et al. Among authors: putnam am. Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345025 Free PMC article.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou Jamra R, Oppermann H. Rahimi MJ, et al. Among authors: putnam am. Am J Hum Genet. 2022 May 5;109(5):944-952. doi: 10.1016/j.ajhg.2022.03.009. Epub 2022 Mar 30. Am J Hum Genet. 2022. PMID: 35358416 Free PMC article.
FGF21 analogs of sustained action enabled by orthogonal biosynthesis demonstrate enhanced antidiabetic pharmacology in rodents.
Mu J, Pinkstaff J, Li Z, Skidmore L, Li N, Myler H, Dallas-Yang Q, Putnam AM, Yao J, Bussell S, Wu M, Norman TC, Rodriguez CG, Kimmel B, Metzger JM, Manibusan A, Lee D, Zaller DM, Zhang BB, DiMarchi RD, Berger JP, Axelrod DW. Mu J, et al. Among authors: putnam am. Diabetes. 2012 Feb;61(2):505-12. doi: 10.2337/db11-0838. Epub 2011 Dec 30. Diabetes. 2012. PMID: 22210323 Free PMC article.
Optimized clinical performance of growth hormone with an expanded genetic code.
Cho H, Daniel T, Buechler YJ, Litzinger DC, Maio Z, Putnam AM, Kraynov VS, Sim BC, Bussell S, Javahishvili T, Kaphle S, Viramontes G, Ong M, Chu S, Becky GC, Lieu R, Knudsen N, Castiglioni P, Norman TC, Axelrod DW, Hoffman AR, Schultz PG, DiMarchi RD, Kimmel BE. Cho H, et al. Among authors: putnam am. Proc Natl Acad Sci U S A. 2011 May 31;108(22):9060-5. doi: 10.1073/pnas.1100387108. Epub 2011 May 16. Proc Natl Acad Sci U S A. 2011. PMID: 21576502 Free PMC article.