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Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: zhang z. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium; Carey JC, Robertson SP, Manoli I, Engle EC. Di Gioia SA, et al. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077. Nat Commun. 2017. PMID: 28681861 Free PMC article.
Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.
Walford GA, Gustafsson S, Rybin D, Stančáková A, Chen H, Liu CT, Hong J, Jensen RA, Rice K, Morris AP, Mägi R, Tönjes A, Prokopenko I, Kleber ME, Delgado G, Silbernagel G, Jackson AU, Appel EV, Grarup N, Lewis JP, Montasser ME, Landenvall C, Staiger H, Luan J, Frayling TM, Weedon MN, Xie W, Morcillo S, Martínez-Larrad MT, Biggs ML, Chen YD, Corbaton-Anchuelo A, Færch K, Gómez-Zumaquero JM, Goodarzi MO, Kizer JR, Koistinen HA, Leong A, Lind L, Lindgren C, Machicao F, Manning AK, Martín-Núñez GM, Rojo-Martínez G, Rotter JI, Siscovick DS, Zmuda JM, Zhang Z, Serrano-Rios M, Smith U, Soriguer F, Hansen T, Jørgensen TJ, Linnenberg A, Pedersen O, Walker M, Langenberg C, Scott RA, Wareham NJ, Fritsche A, Häring HU, Stefan N, Groop L, O'Connell JR, Boehnke M, Bergman RN, Collins FS, Mohlke KL, Tuomilehto J, März W, Kovacs P, Stumvoll M, Psaty BM, Kuusisto J, Laakso M, Meigs JB, Dupuis J, Ingelsson E, Florez JC. Walford GA, et al. Among authors: zhang z. Diabetes. 2016 Oct;65(10):3200-11. doi: 10.2337/db16-0199. Epub 2016 Jul 14. Diabetes. 2016. PMID: 27416945 Free PMC article.
Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth.
Hong X, Hao K, Ji H, Peng S, Sherwood B, Di Narzo A, Tsai HJ, Liu X, Burd I, Wang G, Ji Y, Caruso D, Mao G, Bartell TR, Zhang Z, Pearson C, Heffner L, Cerda S, Beaty TH, Fallin MD, Lee-Parritz A, Zuckerman B, Weeks DE, Wang X. Hong X, et al. Among authors: zhang z. Nat Commun. 2017 Jun 9;8:15608. doi: 10.1038/ncomms15608. Nat Commun. 2017. PMID: 28598419 Free PMC article.
Understanding the Hidden Complexity of Latin American Population Isolates.
Mooney JA, Huber CD, Service S, Sul JH, Marsden CD, Zhang Z, Sabatti C, Ruiz-Linares A, Bedoya G; Costa Rica/Colombia Consortium for Genetic Investigation of Bipolar Endophenotypes; Freimer N, Lohmueller KE. Mooney JA, et al. Among authors: zhang z. Am J Hum Genet. 2018 Nov 1;103(5):707-726. doi: 10.1016/j.ajhg.2018.09.013. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401458 Free PMC article.
Enabling Clinical Trials for AMR in the Era of Precision Medicine.
Cumpelik A, Zhang Z, Menon MC. Cumpelik A, et al. Among authors: zhang z. Transplantation. 2021 Mar 1;105(3):482-483. doi: 10.1097/TP.0000000000003275. Transplantation. 2021. PMID: 32301907 Free PMC article. No abstract available.
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